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profileFowzan Sami Alkuraya, M.B.,B.S.

TitleInstructor in Pediatrics
InstitutionBoston Children's Hospital
DepartmentPediatrics
AddressBrigham and Women's Hospital
NRB Rm 458
77 Avenue Louis Pasteur
Boston MA 02115
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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Shamseldin HE, Alasmari A, Salih MA, Samman MM, Mian SA, Alshidi T, Ibrahim N, Hashem M, Faqeih E, Al-Mohanna F, Alkuraya FS. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder. Brain. 2017 Nov 01; 140(11):2806-2813. PMID: 29053821.
    View in: PubMed
  2. Sowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, Thiele H, Arold ST, Bode H, Alkuraya FS, Borck G. Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum Genet. 2017 Oct 31. PMID: 29090338.
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  3. Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017 Oct; 82(4):562-577. PMID: 28892560.
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  4. Shaheen R, Alkuraya FS. Reply to "an extremely severe phenotype due to WDR81 nonsense mutations". Ann Neurol. 2017 Oct; 82(4):651. PMID: 28961333.
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  5. El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 Dec; 38(12):1649-1659. PMID: 28940506.
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  6. Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Al-Badawi IA, Al-Sanea N, Ashari LH, Abduljabbar A, Alhomoud S, Al-Sobhi SS, Tulbah A, Ajarim D, Alzoman K, Aljuboury M, Yousef HB, Al-Dawish M, Al-Dayel F, Alkuraya FS, Al-Kuraya KS. Expanding the spectrum of germline variants in cancer. Hum Genet. 2017 Oct 03. PMID: 28975465.
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  7. Maddirevula S, Coskun S, Alhassan S, Elnour A, Alsaif HS, Ibrahim N, Abdulwahab F, Arold ST, Alkuraya FS. Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. Am J Hum Genet. 2017 Oct 05; 101(4):603-608. PMID: 28965844.
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  8. Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017 Sep 22. PMID: 28940097.
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  9. Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS. Molecular autopsy in maternal-fetal medicine. Genet Med. 2017 Jul 27. PMID: 28749478.
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  10. Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. Congenital disorders of glycosylation: The Saudi experience. Am J Med Genet A. 2017 Oct; 173(10):2614-2621. PMID: 28742265.
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  11. Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 03; 101(2):206-217. PMID: 28735859.
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  12. Maddirevula S, AlZahrani F, Anazi S, Almureikhi M, Ben-Omran T, Abdel-Salam GMH, Hashem M, Ibrahim N, Abdulwahab FM, Meriki N, Bashiri FA, Thong MK, Muthukumarasamy P, Azwani Mazlan R, Shaheen R, Alkuraya FS. GWAS signals revisited using human knockouts. Genet Med. 2017 Jun 22. PMID: 28640246.
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  13. Al-Qattan MM, Shaheen R, Alkuraya FS. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). Am J Med Genet A. 2017 Sep; 173(9):2439-2441. PMID: 28631893.
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  14. Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36. PMID: 28625504.
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  15. Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug; 136(8):921-939. PMID: 28600779.
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  16. Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2017 Jun 07. PMID: 28601686.
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  17. Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017 Jun; 81(6):890-897. PMID: 28556411.
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  18. Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017 Jun 01; 100(6):969-977. PMID: 28575651.
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  19. Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin HE, Alkuraya FS, El-Hattab AW. WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. Clin Genet. 2017 May 14. PMID: 28503735.
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  20. Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. Am J Hum Genet. 2017 May 04; 100(5):831-836. PMID: 28475863.
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  21. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 2017 May 04; 100(5):695-705. PMID: 28475856.
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  22. Ramadan W, Patel N, Anazi S, Kentab AY, Bashiri FA, Hamad MH, Jad L, Salih MA, Alsaif H, Hashem M, Faqeih E, Shamseddin HE, Alkuraya FS. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. Clin Genet. 2017 Sep; 92(3):327-331. PMID: 28218389.
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  23. Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet. 2017 May 04; 100(5):706-724. PMID: 28413018.
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  24. Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. Genet Med. 2017 Oct; 19(10):1144-1150. PMID: 28383543.
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  25. Sulaiman RA, Patel N, Alsharif H, Arold ST, Alkuraya FS. A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. Clin Genet. 2017 Aug; 92(2):230-231. PMID: 28369803.
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  26. Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N, AlAbdulaziz BS, Abdelrahman KA, Altassan N, Alkuraya FS. Genetic profiling of children with advanced cholestatic liver disease. Clin Genet. 2017 Jul; 92(1):52-61. PMID: 28039895.
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  27. Siraj AK, Masoodi T, Alkuraya FS, Al-Kuraya KS. Response to Yehia et al. Am J Hum Genet. 2017 Mar 02; 100(3):564-565. PMID: 28257695.
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  28. Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. GLI3-related polydactyly: a review. Clin Genet. 2017 Nov; 92(5):457-466. PMID: 28224613.
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  29. Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaite Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017 Apr; 49(4):537-549. PMID: 28191891.
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  30. Siraj AK, Masoodi T, Bu R, Pratheeshkumar P, Al-Sanea N, Ashari LH, Abduljabbar A, Alhomoud S, Al-Dayel F, Alkuraya FS, Al-Kuraya KS. MED12 is recurrently mutated in Middle Eastern colorectal cancer. Gut. 2017 Feb 09. PMID: 28183795.
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  31. Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan; 13(1):e1006470. PMID: 28081210.
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  32. Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS. A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Clin Genet. 2017 Apr; 91(4):629-633. PMID: 27905109.
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  33. Yagita Y, Shinohara K, Abe Y, Nakagawa K, Al-Owain M, Alkuraya FS, Fujiki Y. Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal ß-Oxidation of Very-long-chain Fatty Acids. J Biol Chem. 2017 Jan 13; 292(2):691-705. PMID: 27899449.
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  34. Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Characterizing the morbid genome of ciliopathies. Genome Biol. 2016 Nov 28; 17(1):242. PMID: 27894351.
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  35. Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS. Revisiting the morbid genome of Mendelian disorders. Genome Biol. 2016 Nov 24; 17(1):235. PMID: 27884173.
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  36. Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. Hum Genet. 2017 Feb; 136(2):205-225. PMID: 27878435.
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  37. Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 Jan; 49(1):36-45. PMID: 27841880.
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  38. Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Hum Genet. 2017 Jan; 136(1):99-105. PMID: 27838789.
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  39. Carbonella A, Mancano G, Gremese E, Alkuraya FS, Patel N, Gurrieri F, Ferraccioli G. An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus. Lupus. 2017 Jun; 26(7):768-772. PMID: 27821515.
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  40. Holohan B, Kim W, Lai TP, Hoshiyama H, Zhang N, Alazami AM, Wright WE, Meyn MS, Alkuraya FS, Shay JW. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. BMC Genomics. 2016 Oct 17; 17(Suppl 9):749. PMID: 27766953.
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  41. Maddirevula S, Coskun S, Awartani K, Alsaif H, Abdulwahab FM, Alkuraya FS. The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs. Clin Genet. 2017 Feb; 91(2):344-345. PMID: 27730629.
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  42. Shamseldin HE, Maddirevula S, Faqeih E, Ibrahim N, Hashem M, Shaheen R, Alkuraya FS. Increasing the sensitivity of clinical exome sequencing through improved filtration strategy. Genet Med. 2017 May; 19(5):593-598. PMID: 27711071.
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  43. Cerikan B, Shaheen R, Colo GP, Gläßer C, Hata S, Knobeloch KP, Alkuraya FS, Fässler R, Schiebel E. Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator. Dev Cell. 2016 Oct 10; 39(1):28-43. PMID: 27693507.
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  44. Shamseldin HE, Masuho I, Alenizi A, Alyamani S, Patil DN, Ibrahim N, Martemyanov KA, Alkuraya FS. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition. Genome Biol. 2016 Sep 27; 17(1):195. PMID: 27677260.
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  45. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Sep 01; 99(3):785. PMID: 27588454.
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  46. Tabarki B, AlMajhad N, AlHashem A, Shaheen R, Alkuraya FS. Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. Hum Genet. 2016 Nov; 135(11):1295-1298. PMID: 27567911.
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  47. Shamseldin HE, Maddirevula S, Nabil A, Al-Fadhil S, Al Tala S, Alkuraya FS. Joint laxity in homozygotes for severe POU1F1 mutations. Am J Med Genet A. 2016 Dec; 170(12):3356-3358. PMID: 27541381.
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  48. Shaheen R, Hashem A, Abdel-Salam GM, Al-Fadhli F, Ewida N, Alkuraya FS. Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans. Hum Genet. 2016 Oct; 135(10):1191-7. PMID: 27503289.
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  49. Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. Am J Med Genet A. 2016 Dec; 170(12):3222-3226. PMID: 27480277.
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  50. Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Nov; 135(11):1263-1268. PMID: 27481395.
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  51. Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Baric I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilic K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Mol Genet Metab. 2016 Sep; 119(1-2):44-9. PMID: 27477828.
    View in: PubMed
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  53. Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG, Alkuraya FS, Casanova JL, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016 Sep; 48(9):1071-6. PMID: 27428751; PMCID: PMC5019950 [Available on 03/01/17].
  54. Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, Biary MS, Alazami AM, Alorainy IA, Kabiraj MM, Shaheen R, Alkuraya FS. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. BMC Neurol. 2016 Jul 15; 16:105. PMID: 27422383; PMCID: PMC4947274.
  55. Shamseldin HE, Aldeeri A, Babay Z, Alsultan A, Hashem M, Alkuraya FS. A lethal phenotype associated with tissue plasminogen deficiency in humans. Hum Genet. 2016 Oct; 135(10):1209-11. PMID: 27417437.
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  57. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 07; 99(1):228-35. PMID: 27392077; PMCID: PMC5005448 [Available on 01/07/17].
  58. Khan AO, Aldahmesh MA, Alkuraya F. Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas. J AAPOS. 2016 Aug; 20(4):370-2. PMID: 27373217.
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  59. Maddirevula S, Abanemai M, Alkuraya FS. Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity. Gut. 2016 Sep; 65(9):1575-7. PMID: 27342954.
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  60. Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15; 25(14):3042-3054. PMID: 27270415.
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  64. Siraj AK, Masoodi T, Bu R, Beg S, Al-Sobhi SS, Al-Dayel F, Al-Dawish M, Alkuraya FS, Al-Kuraya KS. Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis. Am J Hum Genet. 2016 Jun 02; 98(6):1170-1180. PMID: 27236916; PMCID: PMC4908175 [Available on 12/02/16].
  65. Park JY, Virts EL, Jankowska A, Wiek C, Othman M, Chakraborty SC, Vance GH, Alkuraya FS, Hanenberg H, Andreassen PR. Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene. J Med Genet. 2016 Oct; 53(10):672-680. PMID: 27208205; PMCID: PMC5035190 [Available on 10/01/17].
  66. Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya FS, Kraemer N, Kaindl AM. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. Orphanet J Rare Dis. 2016 04 29; 11(1):52. PMID: 27129381; PMCID: PMC4850685.
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  71. Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet. 2016 May; 135(5):525-40. PMID: 27023906.
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  72. Shaheen R, Anazi S, Ben-Omran T, Seidahmed MZ, Caddle LB, Palmer K, Ali R, Alshidi T, Hagos S, Goodwin L, Hashem M, Wakil SM, Abouelhoda M, Colak D, Murray SA, Alkuraya FS. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. Am J Hum Genet. 2016 Apr 07; 98(4):643-52. PMID: 27018474; PMCID: PMC4833216 [Available on 10/07/16].
  73. El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. 2016 May; 39(3):373-81. PMID: 26960553.
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  74. Gabriel E, Wason A, Ramani A, Gooi LM, Keller P, Pozniakovsky A, Poser I, Noack F, Telugu NS, Calegari F, Šaric T, Hescheler J, Hyman AA, Gottardo M, Callaini G, Alkuraya FS, Gopalakrishnan J. CPAP promotes timely cilium disassembly to maintain neural progenitor pool. EMBO J. 2016 Apr 15; 35(8):803-19. PMID: 26929011; PMCID: PMC4972140 [Available on 04/15/17].
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  76. Ghazi NG, Abboud EB, Nowilaty SR, Alkuraya H, Alhommadi A, Cai H, Hou R, Deng WT, Boye SL, Almaghamsi A, Al Saikhan F, Al-Dhibi H, Birch D, Chung C, Colak D, LaVail MM, Vollrath D, Erger K, Wang W, Conlon T, Zhang K, Hauswirth W, Alkuraya FS. Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial. Hum Genet. 2016 Mar; 135(3):327-43. PMID: 26825853.
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  78. Al-Yacoub N, Shaheen R, Awad SM, Kunhi M, Dzimiri N, Nguyen HC, Xiong Y, Al-Buraiki J, Al-Habeeb W, Alkuraya FS, Poizat C. FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy. Genome Biol. 2016 Jan 11; 17:2. PMID: 26753747; PMCID: PMC4707779.
  79. Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS. Novel copy number variants and major limb reduction malformation: Report of three cases. Am J Med Genet A. 2016 May; 170A(5):1245-50. PMID: 26749485.
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  80. Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb; 135(2):245-251. PMID: 26742501; PMCID: PMC4975006 [Available on 02/01/17].
  81. Anazi S, Alshammari M, Moneis D, Abouelhoda M, Ibrahim N, Alkuraya FS. Confirming the candidacy of THOC6 in the etiology of intellectual disability. Am J Med Genet A. 2016 May; 170A(5):1367-9. PMID: 26739162.
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  82. Sewairi W, Assiri A, Patel N, Alhashem A, Alkuraya FS. Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? Eur J Hum Genet. 2016 Aug; 24(8):1220-2. PMID: 26733286.
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  83. Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015 Dec 29; 16:293. PMID: 26714646; PMCID: PMC4699358.
  84. Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS. Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet. 2016 Feb; 135(2):193-200. PMID: 26693933.
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  85. Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 07; 98(1):210-5. PMID: 26708753; PMCID: PMC4716667.
  86. Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 Jun; 53(6):427-30. PMID: 26671912; PMCID: PMC4898782.
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  88. AlBakri A, Alkuraya FS, Khan AO. Elevation deficiency in children with recessive RDH12-related retinopathy. J AAPOS. 2015 Dec; 19(6):568-70. PMID: 26691045.
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  89. AlBakri A, Karaoui M, Alkuraya FS, Khan AO. Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. J AAPOS. 2015 Dec; 19(6):577-9. PMID: 26691049.
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  90. Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R, Majewski J, Bernier FP, Alkuraya FS. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. Am J Hum Genet. 2015 Dec 03; 97(6):862-8. PMID: 26608784; PMCID: PMC4678428.
  91. Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet. 2016 Jan; 135(1):21-30. PMID: 26541337; PMCID: PMC4900140.
  92. Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol. 2015 Nov 05; 16:240. PMID: 26537248; PMCID: PMC4634911.
  93. AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. Further Delineation of the ALG9-CDG Phenotype. JIMD Rep. 2016; 27:107-12. PMID: 26453364; PMCID: PMC4867846.
  94. Shaheen R, Abdel-Salam GM, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH, Ismail SI, Emam BA, Phizicky EM, Alkuraya FS. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol. 2015 Sep 28; 16:210. PMID: 26416026; PMCID: PMC4587777.
  95. Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am J Hum Genet. 2015 Oct 01; 97(4):608-15. PMID: 26365341; PMCID: PMC4596891.
  96. Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med. 2016 Jun; 18(6):554-62. PMID: 26355662.
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  97. Tabarki B, AlHashem A, AlShahwan S, Alkuraya FS, Gedela S, Zuccoli G. Severe CNS involvement in WWOX mutations: Description of five new cases. Am J Med Genet A. 2015 Dec; 167A(12):3209-13. PMID: 26345274.
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  98. Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum Mutat. 2015 Oct; 36(10):1015-9. PMID: 26220823; PMCID: PMC4575268 [Available on 10/01/16].
  99. Khan AO, Aldahmesh MA, Alkuraya FS. Clinical Characterization of LRPAP1-Related Pediatric High Myopia. Ophthalmology. 2016 Feb; 123(2):434-5. PMID: 26271838.
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  100. Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS. T (brachyury) is linked to a Mendelian form of neural tube defects in humans. Hum Genet. 2015 Oct; 134(10):1139-41. PMID: 26210634.
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  101. Kelmemi W, Teeuw ME, Bochdanovits Z, Ouburg S, Jonker MA, Alkuraya F, Hashem M, Kayserili H, van Haeringen A, Sheridan E, Masri A, Cobben JM, Rizzu P, Kostense PJ, Dommering CJ, Henneman L, Bouhamed-Chaabouni H, Heutink P, Ten Kate LP, Cornel MC. Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome. BMC Med Genet. 2015 Jul 20; 16:50. PMID: 26188928; PMCID: PMC4557855.
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  103. Shamia A, Shaheen R, Sabbagh N, Almoisheer A, Halees A, Alkuraya FS. Revisiting disease genes based on whole-exome sequencing in consanguineous populations. Hum Genet. 2015 Sep; 134(9):1029-34. PMID: 26141664.
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  104. Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS. Identification of a novel MKS locus defined by TMEM107 mutation. Hum Mol Genet. 2015 Sep 15; 24(18):5211-8. PMID: 26123494.
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  105. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol. 2015 Jun 26; 16:134. PMID: 26112015; PMCID: PMC4499193.
  106. Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015 Sep; 134(9):967-80. PMID: 26077850.
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  107. Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS. Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. 2015 Jun 03; 16:116. PMID: 26036949; PMCID: PMC4491988.
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  109. Ben-Omran T, Alsulaiman R, Kamel H, Shaheen R, Alkuraya FS. Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy. Am J Med Genet A. 2015 Oct; 167A(10):2478-80. PMID: 25997910.
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  110. Seidahmed MZ, Alazami AM, Abdelbasit OB, Al Hussein K, Miqdad AM, Abu-Sa'da O, Mustafa T, Bahjat S, Alkuraya FS. Report of a case of Raine syndrome and literature review. Am J Med Genet A. 2015 Oct; 167A(10):2394-8. PMID: 25974638.
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  111. Abumansour IS, Hijazi H, Alazmi A, Alzahrani F, Bashiri FA, Hassan H, Alhaddab M, Alkuraya FS. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015 Aug; 134(8):815-22. PMID: 25957586.
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  112. Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015 Jun; 52(6):400-4. PMID: 25748484.
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  113. Barakeh D, Faqeih E, Anazi S, S Al-Dosari M, Softah A, Albadr F, Hassan H, Alazami AM, Alkuraya FS. The many faces of KIF7. Hum Genome Var. 2015; 2:15006. PMID: 27081521; PMCID: PMC4785560.
  114. Shaheen R, Al Hashem A, Alghamdi MH, Seidahmad MZ, Wakil SM, Dagriri K, Keavney B, Goodship J, Alyousif S, Al-Habshan FM, Alhussein K, Almoisheer A, Ibrahim N, Alkuraya FS. Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus. J Med Genet. 2015 May; 52(5):322-9. PMID: 25713110.
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  115. Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS. A novel APC mutation defines a second locus for Cenani-Lenz syndrome. J Med Genet. 2015 May; 52(5):317-21. PMID: 25676610.
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  116. Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS. LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. Hum Genet. 2015 Apr; 134(4):451-3. PMID: 25663169.
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  117. Alkuraya FS. Primordial dwarfism: an update. Curr Opin Endocrinol Diabetes Obes. 2015 Feb; 22(1):55-64. PMID: 25490023.
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  119. Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ. Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. Invest Ophthalmol Vis Sci. 2015 Jan 06; 56(1):578-86. PMID: 25564447.
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  120. Khan AO, Aldahmesh MA, Alkuraya FS. Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc. 2015; 113:T7. PMID: 26622071; PMCID: PMC4634221.
  121. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13; 10(2):148-61. PMID: 25558065.
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  122. Chograni M, Alkuraya FS, Maazoul F, Lariani I, Chaabouni-Bouhamed H. RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family. Invest Ophthalmol Vis Sci. 2014 Dec 18; 56(2):1261-6. PMID: 25525169.
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  123. Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. PMID: 25521379; PMCID: PMC4485387 [Available on 12/17/15].
  124. Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, Shamseldin HE, Hagos ST, AlDossari HM, Salih MA, El Khashab HY, Kentab AY, AlNasser MN, Bashiri FA, Kaya N, Hashem MO, Alkuraya FS. The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Genet Med. 2015 Sep; 17(9):719-25. PMID: 25503496.
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  125. Alkuraya FS. Human knockout research: new horizons and opportunities. Trends Genet. 2015 Feb; 31(2):108-15. PMID: 25497971.
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  126. Khan AO, Aldahmesh MA, Alsharif H, Alkuraya FS. Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. Ophthalmic Genet. 2015 Mar; 36(1):58-63. PMID: 25469533.
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  127. Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015 Mar 01; 24(5):1410-9. PMID: 25361962; PMCID: PMC4321448.
  128. Chograni M, Alkuraya FS, Ourteni I, Maazoul F, Lariani I, Chaabouni HB. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family. Clin Genet. 2015 Sep; 88(3):283-7. PMID: 25358429.
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  129. Patel N, Alkuraya FS. Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A. 2015 Jan; 167A(1):259-60. PMID: 25338707.
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  130. Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J Med Genet. 2014 Dec; 51(12):814-6. PMID: 25320347.
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  131. Patel N, El Mouzan MI, Al-Mayouf SM, Adly N, Mohamed JY, Al Mofarreh MA, Ibrahim N, Xiong Y, Zhao Q, Al-Saleem KA, Alkuraya FS. Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles. Gut. 2014 Nov; 63(11):1831-2. PMID: 25147203.
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  132. Khan AO, Shaheen R, Alkuraya FS. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. J AAPOS. 2014 Aug; 18(4):362-7. PMID: 25173900.
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  133. Alkuraya FS. Genetics and genomic medicine in Saudi Arabia. Mol Genet Genomic Med. 2014 Sep; 2(5):369-78. PMID: 25333061; PMCID: PMC4190871.
  134. Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA. CC2D1A regulates human intellectual and social function as well as NF-?B signaling homeostasis. Cell Rep. 2014 Aug 07; 8(3):647-55. PMID: 25066123; PMCID: PMC4334362.
  135. Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum Mol Genet. 2014 Dec 15; 23(24):6584-93. PMID: 25055871; PMCID: PMC4240208.
  136. Aldeeri AA, Alazami AM, Hijazi H, Alzahrani F, Alkuraya FS. Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. Clin Genet. 2014 Nov; 86(5):469-72. PMID: 24773188.
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  137. Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014 Jun 05; 94(6):898-904. PMID: 24836451; PMCID: PMC4121479.
  138. Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. Neurology. 2014 May 06; 82(18):1665-6. PMID: 24799518.
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  139. Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 01; 94(5):755-9. PMID: 24768550; PMCID: PMC4067561.
  140. Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Köhler G, Jaspers M, Boon M, Griese M, Schmitt-Grohé S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet. 2014 Jun; 46(6):646-51. PMID: 24747639.
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  141. Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Ogur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Mutations in the human UBR1 gene and the associated phenotypic spectrum. Hum Mutat. 2014 May; 35(5):521-31. PMID: 24599544.
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  142. Alkuraya FS, Shaheen R. Variable phenotypic expression of COG6 mutations. J Med Genet. 2014 Jun; 51(6):425-6. PMID: 24667118.
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  143. Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. PMID: 24501276; PMCID: PMC4049305.
  144. Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet. 2014 Jun 15; 23(12):3307-15. PMID: 24488770; PMCID: PMC4047285.
  145. Albaqumi M, Alhabib FA, Shamseldin HE, Mohammed F, Alkuraya FS. A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation. J Med Genet. 2014 Apr; 51(4):271-4. PMID: 24421282.
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  146. Alazami AM, Hijazi H, Kentab AY, Alkuraya FS. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J Med Genet. 2014 Apr; 51(4):224-8. PMID: 24399846.
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  147. Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014 Feb; 24(2):291-9. PMID: 24389050; PMCID: PMC3912419.
  148. Al Sarkhy A, Hassan S, Alasmi M, Assiri AM, Alkuraya FS. Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. Ann Saudi Med. 2014 Jan-Feb; 34(1):81-3. PMID: 24658561.
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  149. Hijazi H, Salih MA, Hamad MH, Hassan HH, Salih SB, Mohamed KA, Mukhtar MM, Karrar ZA, Ansari S, Ibrahim N, Alkuraya FS. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit. Clin Genet. 2015; 87(1):56-61. PMID: 24354460.
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  150. Alsalem AB, Halees AS, Anazi S, Alshamekh S, Alkuraya FS. Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation. PLoS Genet. 2013; 9(12):e1004030. PMID: 24367280; PMCID: PMC3868571.
  151. Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet. 2014 Jan 02; 94(1):73-9. PMID: 24360803; PMCID: PMC3882732.
  152. Kruer MC, Salih MA, Mooney C, Alzahrani J, Elmalik SA, Kabiraj MM, Khan AO, Paudel R, Houlden H, Azzedine H, Alkuraya F. C19orf12 mutation leads to a pallido-pyramidal syndrome. Gene. 2014 Mar 10; 537(2):352-6. PMID: 24361204; PMCID: PMC4422067.
  153. Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO, Alkuraya FS. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med. 2014 Mar; 2(2):103-6. PMID: 24689072; PMCID: PMC3960051.
  154. Alsultan A, Shamseldin HE, Osman ME, Aljabri M, Alkuraya FS. MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. Blood. 2013 Nov 28; 122(23):3844-5. PMID: 24288411.
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  155. Adly N, Alhashem A, Ammari A, Alkuraya FS. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat. 2014 Jan; 35(1):36-40. PMID: 24285566.
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  156. Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. PMID: 24268659; PMCID: PMC3852928.
  157. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations. J AAPOS. 2013 Dec; 17(6):643-5. PMID: 24210336.
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  158. Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol. 2013 Nov; 33(8):1403-6. PMID: 24105461.
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  159. Al-Qahtani A, Khalak HG, Alkuraya FS, Al-hamoudi W, Al-hamoudy W, Alswat K, Al Balwi MA, Al Abdulkareem I, Sanai FM, Abdo AA. Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3. J Med Genet. 2013 Nov; 50(11):725-32. PMID: 24065354.
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  160. Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain. 2013 Oct; 136(Pt 10):3096-105. PMID: 24022475; PMCID: PMC3784281.
  161. Khan AO, Aldahmesh MA, Noor J, Salem A, Alkuraya FS. Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. Ophthalmic Genet. 2015 Mar; 36(1):8-13. PMID: 24001013.
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  162. Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95. PMID: 23993194; PMCID: PMC3769923.
  163. Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013 Sep 05; 93(3):555-60. PMID: 23972372; PMCID: PMC3769930.
  164. Alkuraya FS. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet. 2013 Nov; 132(11):1197-211. PMID: 23907654.
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  165. Shaheen R, Al-Owain M, Khan AO, Zaki MS, Hossni HA, Al-Tassan R, Eyaid W, Alkuraya FS. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. Clin Genet. 2014 Jun; 85(6):568-72. PMID: 23829171.
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  166. Shaheen R, Faqeih E, Ansari S, Alkuraya FS. A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. Neurogenetics. 2013 Nov; 14(3-4):243-5. PMID: 23877401.
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  167. Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat. 2013 Sep; 34(9):1195-9. PMID: 23818446.
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  168. Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013 Aug 08; 93(2):313-20. PMID: 23830514; PMCID: PMC3738831.
  169. Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, Alkuraya FS. Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome. Clin Genet. 2014 May; 85(5):492-4. PMID: 23808541.
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  170. Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype. Ophthalmic Genet. 2014 Sep; 35(3):187-9. PMID: 23767995.
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  171. Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. Ophthalmic Genet. 2014 Sep; 35(3):130-7. PMID: 23767994.
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  172. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Mutations in ALDH1A3 cause microphthalmia. Clin Genet. 2013 Aug; 84(2):128-31. PMID: 23646827.
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  173. Faqeih E, Shaheen R, Alkuraya FS. WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet. 2013 Jul; 50(7):491-2. PMID: 23709755.
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  174. Al-Qattan MM, Shamseldin HE, Al Mazyad M, Al Deghaither S, Alkuraya FS. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36. Am J Med Genet A. 2013 Jul; 161A(7):1579-84. PMID: 23686920.
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  175. Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS. No evidence for locus heterogeneity in Knobloch syndrome. J Med Genet. 2013 Aug; 50(8):565-6. PMID: 23667181.
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  176. Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT. Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Hum Mutat. 2013 Jul; 34(7):945-52. PMID: 23554237.
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  177. Alazami AM, Alshammari MJ, Baig M, Salih MA, Hassan HH, Alkuraya FS. NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. Clin Genet. 2014 Apr; 85(4):371-5. PMID: 23574405.
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  178. Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet. 2013 Jul; 50(7):425-30. PMID: 23620220.
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  179. Anazi S, Al-Sabban E, Alkuraya FS. Gonadal mosaicism as a rare cause of autosomal recessive inheritance. Clin Genet. 2014 Mar; 85(3):278-81. PMID: 23551117.
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  180. Shaheen R, Ansari S, Alshammari MJ, Alkhalidi H, Alrukban H, Eyaid W, Alkuraya FS. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013 Jul; 50(7):431-6. PMID: 23606727.
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  181. Conlon TJ, Deng WT, Erger K, Cossette T, Pang JJ, Ryals R, Clément N, Cleaver B, McDoom I, Boye SE, Peden MC, Sherwood MB, Abernathy CR, Alkuraya FS, Boye SL, Hauswirth WW. Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Hum Gene Ther Clin Dev. 2013 Mar; 24(1):23-8. PMID: 23692380; PMCID: PMC3856558.
  182. Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 04; 92(4):598-604. PMID: 23522784; PMCID: PMC3617382.
  183. Alkuraya FS. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience. Clin Genet. 2013 Sep; 84(3):203-8. PMID: 23451714.
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  184. Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol. 2013 Jun; 97(6):760-4. PMID: 23505306.
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  185. Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. Am J Hum Genet. 2013 Mar 07; 92(3):387-91. PMID: 23453665; PMCID: PMC3591839.
  186. Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord. 2013 Jun; 28(6):795-803. PMID: 23418071.
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  187. Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013 Jun 01; 22(11):2200-13. PMID: 23418308.
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  188. Mizuno Y, Ninomiya Y, Nakachi Y, Iseki M, Iwasa H, Akita M, Tsukui T, Shimozawa N, Ito C, Toshimori K, Nishimukai M, Hara H, Maeba R, Okazaki T, Alodaib AN, Al Amoudi M, Jacob M, Alkuraya FS, Horai Y, Watanabe M, Motegi H, Wakana S, Noda T, Kurochkin IV, Mizuno Y, Schönbach C, Okazaki Y. Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility. PLoS Genet. 2013; 9(2):e1003286. PMID: 23459139; PMCID: PMC3573110.
  189. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology. 2013 May; 120(5):956-60. PMID: 23375591.
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  190. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Congenital glaucoma with acquired peripheral circumferential iris degeneration. J AAPOS. 2013 Feb; 17(1):105-7. PMID: 23363883.
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  191. Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013 Nov; 36(6):913-21. PMID: 23355087.
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  192. Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS. Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet. 2013 Mar; 50(3):160-2. PMID: 23349226; PMCID: PMC3585488.
  193. Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013 Nov; 36(6):997-1004. PMID: 23315216.
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  194. Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013 Jan 10; 92(1):157-61. PMID: 23290072; PMCID: PMC3542464.
  195. Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. Clin Dysmorphol. 2013 Jan; 22(1):13-7. PMID: 23211637.
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  196. Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS. Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet. 2013 Jan; 50(1):54-8. PMID: 23240096.
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  197. Al-Qattan MM, Shamseldin HE, Alkuraya FS. The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. Gene. 2013 Mar 01; 516(1):168-70. PMID: 23266637.
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  198. Al-Salem A, Alshammari MJ, Hassan H, Alazami AM, Alkuraya FS. Weaver syndrome and defective cortical development: a rare association. Am J Med Genet A. 2013 Jan; 161A(1):225-7. PMID: 23239504.
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  199. AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012; 18:2931-6. PMID: 23288985; PMCID: PMC3533929.
  200. Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, Bustamante M, Feenstra B, Berry DJ, Thiering E, Pfab T, Barton SJ, Shields BM, Kerkhof M, van Leeuwen EM, Fulford AJ, Kutalik Z, Zhao JH, den Hoed M, Mahajan A, Lindi V, Goh LK, Hottenga JJ, Wu Y, Raitakari OT, Harder MN, Meirhaeghe A, Ntalla I, Salem RM, Jameson KA, Zhou K, Monies DM, Lagou V, Kirin M, Heikkinen J, Adair LS, Alkuraya FS, Al-Odaib A, Amouyel P, Andersson EA, Bennett AJ, Blakemore AI, Buxton JL, Dallongeville J, Das S, de Geus EJ, Estivill X, Flexeder C, Froguel P, Geller F, Godfrey KM, Gottrand F, Groves CJ, Hansen T, Hirschhorn JN, Hofman A, Hollegaard MV, Hougaard DM, Hyppönen E, Inskip HM, Isaacs A, Jørgensen T, Kanaka-Gantenbein C, Kemp JP, Kiess W, Kilpeläinen TO, Klopp N, Knight BA, Kuzawa CW, McMahon G, Newnham JP, Niinikoski H, Oostra BA, Pedersen L, Postma DS, Ring SM, Rivadeneira F, Robertson NR, Sebert S, Simell O, Slowinski T, Tiesler CM, Tönjes A, Vaag A, Viikari JS, Vink JM, Vissing NH, Wareham NJ, Willemsen G, Witte DR, Zhang H, Zhao J, Wilson JF, Stumvoll M, Prentice AM, Meyer BF, Pearson ER, Boreham CA, Cooper C, Gillman MW, Dedoussis GV, Moreno LA, Pedersen O, Saarinen M, Mohlke KL, Boomsma DI, Saw SM, Lakka TA, Körner A, Loos RJ, Ong KK, Vollenweider P, van Duijn CM, Koppelman GH, Hattersley AT, Holloway JW, Hocher B, Heinrich J, Power C, Melbye M, Guxens M, Pennell CE, Bønnelykke K, Bisgaard H, Eriksson JG, Widén E, Hakonarson H, Uitterlinden AG, Pouta A, Lawlor DA, Smith GD, Frayling TM, McCarthy MI, Grant SF, Jaddoe VW, Jarvelin MR, Timpson NJ, Prokopenko I, Freathy RM. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet. 2013 Jan; 45(1):76-82. PMID: 23202124; PMCID: PMC3605762.
  201. Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet. 2013 Jul; 21(7):762-8. PMID: 23169490; PMCID: PMC3722952.
  202. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet. 2013 Aug; 84(2):198-9. PMID: 23167593.
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  203. Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children. J AAPOS. 2012 Dec; 16(6):571-2. PMID: 23158549.
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  204. Nowilaty SR, Khan AO, Aldahmesh MA, Tabbara KF, Al-Amri A, Alkuraya FS. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Am J Ophthalmol. 2013 Feb; 155(2):361-372.e7. PMID: 23127749.
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  205. Sunker A, Alkuraya FS. Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain. Gene. 2013 Jan 10; 512(2):450-2. PMID: 23124037.
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  206. Seidahmed MZ, Salih MA, Abdulbasit OB, Shaheed M, Al Hussein K, Miqdad AM, Al Rasheed AK, Alazami AM, Alorainy IA, Alkuraya FS. A novel syndrome of lethal familial hyperekplexia associated with brain malformation. BMC Neurol. 2012 Oct 27; 12:125. PMID: 23101555; PMCID: PMC3488335.
  207. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb; 23(2):236-47. PMID: 23105016; PMCID: PMC3561865.
  208. Khan AO, Alrashed M, Alkuraya FS. Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol. 2013 Mar; 97(3):262-5. PMID: 23099293.
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  209. Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Autozygosity mapping with exome sequence data. Hum Mutat. 2013 Jan; 34(1):50-6. PMID: 23090942.
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  210. Shamseldin HE, Swaid A, Alkuraya FS. Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing. Genet Med. 2013 Apr; 15(4):307-9. PMID: 23037934; PMCID: PMC3908556.
  211. Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012 Oct; 49(10):630-5. PMID: 23054245.
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  212. Alkuraya FS. Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet. 2012 Oct; Chapter 6:Unit6.12. PMID: 23074070.
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  213. Alzahrani F, Alshammari MJ, Alkuraya FS. Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene. 2012 Dec 15; 511(2):480-1. PMID: 23026214.
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  214. Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. Gene. 2012 Dec 15; 511(2):447-50. PMID: 23010198.
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  215. Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med. 2012 Dec; 14(12):955-62. PMID: 22935719.
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  216. Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum Mutat. 2012 Oct; 33(10):1429-34. PMID: 22865833.
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  217. Al-Yami N, Al-Jbali L, M AlGhamdi K, Alkuraya FS. No evidence for rare pathological SIAE coding variants in patients with vitiligo. Int J Dermatol. 2013 Aug; 52(8):1019-21. PMID: 22913750.
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  218. Al-Owain M, Alanazi S, Khalifa O, Al-Hemidan A, Al-Ebdi L, Al-Saud B, Alkuraya FS. A case of de Barsy syndrome with a severe eye phenotype. Am J Med Genet A. 2012 Sep; 158A(9):2364-6. PMID: 22887749.
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  219. Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012 Aug 10; 91(2):330-6. PMID: 22840364; PMCID: PMC3415549.
  220. Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet. 2012 Oct 15; 21(20):4521-9. PMID: 22833457.
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  221. Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS. Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat. 2012 Oct; 33(10):1423-8. PMID: 22693042.
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  222. Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS. Homozygous null mutation in ODZ3 causes microphthalmia in humans. Genet Med. 2012 Nov; 14(11):900-4. PMID: 22766609.
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  223. Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, Raddaoui E, Almomen AK, Al-Muhsen S, Geha RS, Alkuraya FS. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012 Aug; 130(2):481-8.e2. PMID: 22721650; PMCID: PMC3582381.
  224. Alshammari MJ, Al-Otaibi L, Alkuraya FS. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet. 2012 Jul; 49(7):455-61. PMID: 22652534.
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  225. Alkuraya FS. MGAT2-CDG (CDG-IIa) and dysmorphism. Am J Med Genet A. 2012 Nov; 158A(11):2976. PMID: 22585623.
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  226. Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun; 33(6):960-2. PMID: 22415731.
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  227. Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet. 2012 Dec; 33(4):235-9. PMID: 22486325.
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  228. Khan AO, Aldahmesh MA, Alkuraya FS. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. Ophthalmic Genet. 2012 Dec; 33(4):257-9. PMID: 22486320.
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  229. Deng WT, Dinculescu A, Li Q, Boye SL, Li J, Gorbatyuk MS, Pang J, Chiodo VA, Matthes MT, Yasumura D, Liu L, Alkuraya FS, Zhang K, Vollrath D, LaVail MM, Hauswirth WW. Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats. Invest Ophthalmol Vis Sci. 2012 Apr 06; 53(4):1895-904. PMID: 22408006; PMCID: PMC3995567.
  230. Siraj AK, Khalak HG, Sultana M, Al-Rasheed M, Bavi P, Al-Sanea N, Al-Dayel F, Uddin S, Alkuraya FS, Al-Kuraya KS. Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia. Genet Med. 2012 Apr 05. PMID: 22481135.
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  231. Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012 Apr; 49(4):234-41. PMID: 22499341.
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  232. Al-Qattan MM, Shamseldin HE, Alkuraya FS. Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot. Gene. 2012 Jun 01; 500(2):216-9. PMID: 22484600.
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  233. Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012 Jun; 96(6):890-5. PMID: 22399687.
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  234. Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012 Apr; 20(4):420-7. PMID: 22353939; PMCID: PMC3306854.
  235. Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS. 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J Pediatr. 2012 Jul; 161(1):139-45.e1. PMID: 22325252.
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  236. Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS. RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism. Br J Ophthalmol. 2012 Jul; 96(7):1018-22. PMID: 22317909.
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  237. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol. 2012 May; 96(5):650-5. PMID: 22267527.
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  238. Alsalem A, Shaheen R, Alkuraya FS. Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. Gene. 2012 Apr 01; 496(2):141-3. PMID: 22285377.
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  239. Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012 Mar; 49(3):184-6. PMID: 22232082.
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  240. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). Ophthalmic Genet. 2012 Jun; 33(2):89-95. PMID: 22229851.
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  241. Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. Genet Med. 2012 May; 14(5):515-9. PMID: 22241088.
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  242. Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT. A novel X-linked disorder with developmental delay and autistic features. Ann Neurol. 2012 Apr; 71(4):498-508. PMID: 22213401.
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  243. Aldahmesh MA, Mohamed JY, Alkuraya FS. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet. 2012 Feb; 81(2):198-9. PMID: 22122778.
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  244. Shamseldin HE, Faden MA, Alashram W, Alkuraya FS. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet. 2012 Jan; 49(1):16-20. PMID: 22121204.
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  245. Alazami AM, Monies D, Meyer BF, Alzahrani F, Hashem M, Salih MA, Alkuraya FS. Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A. 2012 Jan; 158A(1):245-6. PMID: 22105986.
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  246. Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011 Dec 09; 89(6):745-50. PMID: 22100072; PMCID: PMC3234380.
  247. Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med. 2011 Nov; 13(11):978-81. PMID: 21836522.
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  248. Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, Al Sonbul A, Sewairi W, Qari A, Abdallah E, Al-Owain M, Al Motywee S, Al-Rayes H, Hashem M, Khalak H, Al-Jebali L, Alkuraya FS. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011 Oct 23; 43(12):1186-8. PMID: 22019780.
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  249. Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis. 2011; 17:2570-9. PMID: 22025892; PMCID: PMC3198484.
  250. Khan AO, Alrashed M, Alkuraya FS. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol. 2012 Mar; 96(3):422-6. PMID: 21900228.
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  251. Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet. 2011 Sep; 48(9):597-601. PMID: 21862674.
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  252. Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS. Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms. Am J Hum Genet. 2011 Aug 12; 89(2):313-9. PMID: 21835307; PMCID: PMC3155176.
  253. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12; 89(2):328-33. PMID: 21820096; PMCID: PMC3155174.
  254. Al-Shammari M, Al-Husain M, Al-Kharfy T, Alkuraya FS. A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet. 2011 Aug; 80(2):196-8. PMID: 21749365.
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  255. Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics. 2011 Nov; 12(4):333-6. PMID: 21796390; PMCID: PMC3215864.
  256. Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin Genet. 2012 Aug; 82(2):193-6. PMID: 21651516.
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  257. Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011 Jul 15; 89(1):44-55. PMID: 21703590; PMCID: PMC3135813.
  258. Aldahmesh MA, Nowilaty SR, Alzahrani F, Al-Ebdi L, Mohamed JY, Rajab M, Khan AO, Alkuraya FS. Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. Arch Ophthalmol. 2011 Jun; 129(6):805-7. PMID: 21670352.
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  259. Seidahmed MZ, Alkuraya FS, Shaheed M, Al Zahrani M, Al Manea W, Mansour F, Mustafa T, Farid G, Salih MA. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. Am J Med Genet A. 2011 Jun; 155A(6):1393-7. PMID: 21567916.
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  260. Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A. 2011 Jun; 155A(6):1448-52. PMID: 21567934.
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  261. Kaya N, Al-Owain M, Abudheim N, Al-Zahrani J, Colak D, Al-Sayed M, Milanlioglu A, Ozand PT, Alkuraya FS. GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Am J Med Genet A. 2011 Jun; 155A(6):1281-4. PMID: 21567908.
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  262. Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat. 2011 Jun; 32(6):573-8. PMID: 21462283.
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  263. Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. PMID: 21529751; PMCID: PMC3146728.
  264. Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J AAPOS. 2011 Apr; 15(2):198-9. PMID: 21596299.
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  265. Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011 Mar 25; 331(6024):1571-6. PMID: 21436445; PMCID: PMC3279122.
  266. Khan AO, Aldahmesh MA, Alkuraya FS. Genetic and genomic analysis of classic aniridia in Saudi Arabia. Mol Vis. 2011 Mar 11; 17:708-14. PMID: 21423868; PMCID: PMC3060157.
  267. Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet. 2011 Sep; 32(3):138-42. PMID: 21306220.
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  268. Bohlega S, Alazami AM, Cupler E, Al-Hindi H, Ibrahim E, Alkuraya FS. A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33. Clin Genet. 2011 Feb; 79(2):193-5. PMID: 21210780.
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  269. Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet. 2011 Apr 15; 20(8):1625-32. PMID: 21282186; PMCID: PMC3063988.
  270. Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar; 43(3):197-203. PMID: 21258343; PMCID: PMC3045628.
  271. Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet. 2011 Jan; 79(1):60-70. PMID: 20681997.
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  272. Alkuraya FS. Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis. Am J Med Genet A. 2010 Dec 22. PMID: 21182017.
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  273. Alkuraya FS. Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis. Am J Med Genet A. 2011 Feb; 155A(2):297-300. PMID: 21271645.
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  274. Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet. 2010 Dec; 78(6):585-90. PMID: 20507343.
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  275. Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clin Genet. 2010 Dec; 78(6):594-7. PMID: 21044051.
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  276. Alkuraya FS. Autozygome decoded. Genet Med. 2010 Dec; 12(12):765-71. PMID: 21189493.
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  277. Bouhenni RA, Al Shahwan S, Morales J, Wakim BT, Chomyk AM, Alkuraya FS, Edward DP. Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma. Exp Eye Res. 2011 Jan; 92(1):67-75. PMID: 21078314.
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  278. Shamseldin HE, Al-Dosari M, Al-Jbali L, Rahbeeni Z, Qari A, Hashem M, Alkuraya FS. Study of consanguineous populations can improve the annotation of SNP databases. Eur J Med Genet. 2011 Mar-Apr; 54(2):118-20. PMID: 21035572.
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  279. Al-Owain M, Alazami AM, Alkuraya FS. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Clin Genet. 2011 Nov; 80(5):489-92. PMID: 20950399.
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  280. Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS. FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Am J Hum Genet. 2010 Oct 8; 87(4):571. PMID: 20933631.
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  281. Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol. 2010 Oct; 128(10):1376-9. PMID: 20938016.
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  282. Alkuraya FS. Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. Am J Med Genet A. 2010 Sep; 152A(9):2160-3. PMID: 20684000.
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  283. Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS. FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? Am J Hum Genet. 2010 Aug 13; 87(2):306-7; author reply 308. PMID: 20696291; PMCID: PMC2917708.
  284. Al-Qattan MM, Almazyad M, Shamseldin H, Alkuraya FS. Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes. J Hand Surg Eur Vol. 2010 Nov; 35(9):715-20. PMID: 20659967.
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  285. Shamseldin HE, Rahbeeni Z, Alkuraya FS. Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV. Am J Med Genet A. 2010 Jul; 152A(7):1841-3. PMID: 20583152.
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  286. Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010 Jun; 47(6):411-4. PMID: 20522431.
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  287. Al-Dosari MS, Almazyad M, Al-Ebdi L, Mohamed JY, Al-Dahmash S, Al-Dhibi H, Al-Kahtani E, Al-Turkmani S, Alkuraya H, Hall BD, Alkuraya FS. Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature. Mol Vis. 2010 May 08; 16:813-8. PMID: 20461149; PMCID: PMC2866573.
  288. Faden M, Al-Zahrani F, Arafah D, Alkuraya FS. Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet A. 2010 May; 152A(5):1157-60. PMID: 20425819.
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  289. Alkuraya FS. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med. 2010 Apr; 12(4):236-9. PMID: 20134328.
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  290. Al-Dosari MS, Alkuraya FS. Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. Clin Dysmorphol. 2010 Apr; 19(2):98-100. PMID: 20177376.
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  291. Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis. 2010 Mar 09; 16:369-77. PMID: 20300561; PMCID: PMC2838735.
  292. Khan AO, Abu Safieh L, Alkuraya FS, Alkurarya FS. Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). Ophthalmic Genet. 2010 Mar; 31(1):30-6. PMID: 20141356.
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  293. Khan AO, Aldahmesh MA, Al-Harthi E, Alkuraya FS. Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X. Arch Ophthalmol. 2010 Mar; 128(3):344-8. PMID: 20212206.
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  294. Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis. 2010 Feb 10; 16:207-12. PMID: 20157620; PMCID: PMC2820108.
  295. Alkuraya FS. Saudi genetic ophthalmology research: The local and global impact. Saudi J Ophthalmol. 2010 Oct; 24(4):109-10. PMID: 23960886; PMCID: PMC3729551.
  296. Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS. Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. Genet Test Mol Biomarkers. 2010 Feb; 14(1):135-9. PMID: 19916794.
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  297. Aldahmesh MA, Humeidan A, Almojalli HA, Khan AO, Rajab M, AL-Abbad AA, Meyer BF, Alkuraya FS. Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet. 2009 Dec; 30(4):185-9. PMID: 19852576.
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  298. Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis. 2009 Nov 24; 15:2464-9. PMID: 19956407; PMCID: PMC2786884.
  299. Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet. 2009 Nov; 85(5):558-68. PMID: 19836009; PMCID: PMC2775842.
  300. Al-Mayouf SM, Alswaied N, Alkuraya FS, Almehaidib A, Faqih M. Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. J Pediatr Gastroenterol Nutr. 2009 Nov; 49(5):642-4. PMID: 19820410.
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  301. Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet. 2010 Apr; 47(4):236-41. PMID: 19858128.
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  302. Al-Dosari M, Alkuraya FS. A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. Am J Med Genet A. 2009 Oct; 149A(10):2093-8. PMID: 19681135.
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  303. Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet. 2009 Sep; 85(3):414-8. PMID: 19732862; PMCID: PMC2771533.
  304. Khan AO, Aldahmesh MA, Al-Gehedan S, Meyer BF, Meyer BF, Alkuraya FS. Corneal decompensation in recessive cornea plana. Ophthalmic Genet. 2009 Sep; 30(3):142-5. PMID: 19941419.
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  305. Khan AO, Aldahmesh MA, Ghadhfan FE, Al-Mesfer S, Alkuraya FS. Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis. 2009 Jul 24; 15:1407-11. PMID: 19633732; PMCID: PMC2714775.
  306. Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. Am J Med Genet A. 2009 Jun; 149A(6):1219-23. PMID: 19449432.
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  307. Safieh LA, Khan AO, Alkuraya FS. Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis. 2009 May 15; 15:980-4. PMID: 19461931; PMCID: PMC2684560.
  308. Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am J Med Genet A. 2009 May; 149A(5):931-8. PMID: 19353646; PMCID: PMC2777524.
  309. Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci. 2009 Sep; 50(9):4142-5. PMID: 19369245.
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  310. Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. Neurogenetics. 2009 Oct; 10(4):307-11. PMID: 19277732.
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  311. Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A. 2009 Feb 15; 149A(4):662-5. PMID: 19283855.
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  312. Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008 Dec; 83(6):684-91. PMID: 19026396; PMCID: PMC2668059.
  313. Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009 Jan; 17(1):14-21. PMID: 18701883; PMCID: PMC2985964.
  314. Alazami AM, Alzahrani F, Alkuraya FS. Expanding the "E" in CHARGE. Am J Med Genet A. 2008 Jul 15; 146A(14):1890-2. PMID: 18553515.
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  315. Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A. 2008 Jul 15; 146A(14):1875-9. PMID: 18553553.
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  316. Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22. PMID: 18319076; PMCID: PMC2427206.
  317. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. PMID: 17530927; PMCID: PMC1877820.
  318. Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006 Sep 22; 313(5794):1751. PMID: 16990542.
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  319. Alkuraya FS, Martin CL, Kimonis VE. Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing? Prenat Diagn. 2006 Mar; 26(3):291-3. PMID: 16506278.
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  320. Anselm IA, Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9. PMID: 16601897; PMCID: PMC2393549.
  321. Alkuraya FS, Moy R, Maas RL. EYA1 and the Branchio-Oto-Renal Syndrome. Inborn Errors of Development. 2006.
  322. Alkuraya FS, Picker J, Irons MB, Kimonis VE. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71. PMID: 15965973.
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  323. Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 01; 132A(4):447-9. PMID: 15580637.
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  324. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30. PMID: 15580636.
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  325. Alkuraya FS, Harris DJ. Trisomy 8 mosaicism in a patient with heterotaxia. Birth Defects Res A Clin Mol Teratol. 2005 Jan; 73(1):58-60. PMID: 15578648.
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  326. Colianni S, Ping J, Fischer PR, Freese D, Chan K, Alkuraya FS. Index of suspicion. Pediatr Rev. 2004 Aug; 25(8):289-94. PMID: 15286275.
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  327. Fowzan Alkuraya, Sinan Turnacioglu. Pediatric Puzzler: Jaundice and lethargy (a case of an infant with septo-optic dysplasia). Contemporary Pediatrics. 2004; 21:20.
  328. Alkuraya FS, Kilani RA. Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa). Prenat Diagn. 2001 Jun; 21(6):448-51. PMID: 11438947.
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