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Saumya S Jamuar, M.D.

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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. Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome? Am J Med Genet A. 2020 Jul 13. PMID: 32657013.
    Citations:    
  2. Ong RYL, Chan SB, Chew SJ, Liew WK, Thoon KC, Chong CY, Yung CF, Sng LH, Tan AM, Bhattacharyya R, Jamuar SS, Lim JY, Li J, Nadua KD, Kam KQ, Tan NW. DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW. Int J Infect Dis. 2020 Aug; 97:117-125. PMID: 32497805.
    Citations:    
  3. Wu RR, Sultana R, Bylstra Y, Jamuar S, Davila S, Lim WK, Ginsburg GS, Orlando LA, Yeo KK, Cook SA, Tan P. Evaluation of family health history collection methods impact on data and risk assessment outcomes. Prev Med Rep. 2020 Jun; 18:101072. PMID: 32181122.
    Citations:    
  4. Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. PMID: 32001716.
    Citations:    
  5. Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. Gene. 2020 Mar 20; 731:144360. PMID: 31935506.
    Citations:    
  6. Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations. Am J Med Genet A. 2020 02; 182(2):303-313. PMID: 31854143.
    Citations:    
  7. Wei H, Krishnappa J, Lin G, Kavalloor N, Lim JY, Goh CJ, Jamuar SS, Thomas T, Tan EC. Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant. Am J Med Genet A. 2020 03; 182(3):576-578. PMID: 31833200.
    Citations:    
  8. Ler GYL, Liew WK, Lim J, Lim JY, Ong LY, Tang PH, Low D, Lim T, Jamuar SS. Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: Think Pallister-Hall syndrome. Neurology. 2019 12 03; 93(23):e1016-e1017. PMID: 31792112.
    Citations:    
  9. Si-Min Ng P, Khan S, Lim JY, Chew-Yin Goh J, Lin GX, Wei H, Tan EC, Jamuar SS. TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome. Clin Dysmorphol. 2019 Oct; 28(4):215-218. PMID: 31490282.
    Citations:    
  10. Lim JY, Bhatia NS, Vasanwala RF, Chay PL, Lim KBL, Khoo PC, Schwarze U, Jamuar SS. A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. Clin Dysmorphol. 2019 Jul; 28(3):120-125. PMID: 30985308.
    Citations:    
  11. Chew YR, Lim JY, Teoh OH, Chen CK, Foo R, Lai AH, Jamuar SS. Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. Clin Dysmorphol. 2019 Jul; 28(3):167-169. PMID: 30921097.
    Citations:    
  12. Bylstra Y, Davila S, Lim WK, Wu R, Teo JX, Kam S, Lysaght T, Rozen S, Teh BT, Yeo KK, Cook SA, Tan P, Jamuar SS. Implementation of genomics in medical practice to deliver precision medicine for an Asian population. NPJ Genom Med. 2019; 4:12. PMID: 31231544.
    Citations:    
  13. Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS. Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. Eur J Med Genet. 2020 Feb; 63(2):103652. PMID: 30986546.
    Citations:    
  14. Hulsen T, Jamuar SS, Moody AR, Karnes JH, Varga O, Hedensted S, Spreafico R, Hafler DA, McKinney EF. From Big Data to Precision Medicine. Front Med (Lausanne). 2019; 6:34. PMID: 30881956.
    Citations:    
  15. Koh AL, Tan ES, Brett MS, Lai AHM, Jamuar SS, Ng I, Tan EC. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. Mol Genet Genomic Med. 2019 04; 7(4):e00581. PMID: 30784236.
    Citations:    
  16. Bhatia NS, Lim JY, Brett MS, Tan EC, Law HY, Thomas B, Choo J, Lai AHM, Jamuar SS. Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature. Clin Dysmorphol. 2019 Jan; 28(1):53-56. PMID: 30507726.
    Citations:    Fields:    
  17. Bylstra Y, Kuan JL, Lim WK, Bhalshankar JD, Teo JX, Davila S, Teh BT, Rozen S, Tan EC, Liew WKM, Yeo KK, Tan P, Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. Genet Med. 2018 12; 20(12):1692. PMID: 30089799.
    Citations:    Fields:    
  18. Qadri SK, Logarajah V, Nah SA, Jamuar SS. Feeding difficulty in an infant: an unusual cause. BMJ Case Rep. 2018 Aug 23; 2018. PMID: 30139785.
    Citations:    Fields:    Translation:Humans
  19. Bylstra Y, Kuan JL, Lim WK, Bhalshankar JD, Teo JX, Davila S, Teh BT, Rozen S, Tan EC, Liew WKM, Yeo KK, Tan P, Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. Genet Med. 2019 01; 21(1):207-212. PMID: 29961769.
    Citations:    Fields:    
  20. Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 2018 05; 176(5):1128-1136. PMID: 29681090.
    Citations:    Fields:    
  21. Jamuar SS, Picker JD, Stoler JM. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. PMID: 29398060.
    Citations:    Fields:    
  22. Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am J Hum Genet. 2018 01 04; 102(1):116-132. PMID: 29290337.
    Citations:    Fields:    Translation:HumansAnimals
  23. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. PMID: 29068161.
    Citations:    Fields:    Translation:HumansCells
  24. Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. PMID: 28250456.
    Citations: 7     Fields:    Translation:HumansCells
  25. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down syndrome in diverse populations. Am J Med Genet A. 2017 Jan; 173(1):42-53. PMID: 27991738.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  26. Qadri SK, Ting TW, Lim JS, Jamuar SS. Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy. Ann Acad Med Singapore. 2016 Dec; 45(12):563-566. PMID: 28062886.
    Citations:    Fields:    Translation:Humans
  27. Brett M, Lai AH, Ting TW, Tan AM, Foo R, Jamuar S, Tan EC. Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation. Am J Med Genet A. 2017 02; 173(2):550-552. PMID: 27759915.
    Citations:    Fields:    Translation:HumansCells
  28. Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? EBioMedicine. 2016 Mar; 5:211-6. PMID: 27077130.
    Citations: 2     Fields:    Translation:Humans
  29. Bhattacharyya R, Tan AM, Chan MY, Jamuar SS, Foo R, Iyer P. TCR aß and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. Bone Marrow Transplant. 2016 05; 51(5):753-4. PMID: 26808564.
    Citations: 2     Fields:    Translation:Humans
  30. Ting TW, Brett MS, Cham BW, Lim JY, Law HY, Tan EC, Lai AH, Jamuar SS. DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature. Clin Dysmorphol. 2016 Jan; 25(1):37-40. PMID: 26513514.
    Citations:    Fields:    Translation:HumansCells
  31. Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Hum Genomics. 2015 Dec 14; 9:33. PMID: 26666243.
    Citations: 7     Fields:    Translation:Humans
  32. D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. PMID: 26637798.
    Citations: 21     Fields:    Translation:Humans
  33. Ting TW, Jamuar SS. Response to Letter by Finsterer and Zarrouk. Pediatr Cardiol. 2015 Oct; 36(7):1550. PMID: 26271473.
    Citations:    Fields:    
  34. Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH. Left Ventricular Non-compaction: Is It Genetic? Pediatr Cardiol. 2015 Dec; 36(8):1565-72. PMID: 26108892.
    Citations: 3     Fields:    Translation:HumansCells
  35. Jamuar SS, Tan EC. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics. 2015 Jun 16; 9:10. PMID: 26076878.
    Citations: 12     Fields:    Translation:Humans
  36. Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 2015 Oct; 174(10):1405-11. PMID: 25976726.
    Citations: 3     Fields:    Translation:Humans
  37. Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A. 2015 Jun; 167(6):1400-5. PMID: 25846266.
    Citations:    Fields:    Translation:HumansCells
  38. Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. PMID: 26022163.
    Citations: 7     Fields:    Translation:Humans
  39. Jamuar SS, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 11 20; 371(21):2038. PMID: 25409382.
    Citations: 6     Fields:    Translation:Humans
  40. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. PMID: 25140959.
    Citations: 60     Fields:    Translation:Humans
  41. Jamuar SS, Lai AH. Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia. Ther Adv Hematol. 2012 Oct; 3(5):299-307. PMID: 23616917.
    Citations: 7     
  42. Liew WK, Lek N, Jamuar SS, Lim KW. Picture of the month. Primary hypothyroidism. Arch Pediatr Adolesc Med. 2012 Jun 01; 166(6):573-4. PMID: 22665032.
    Citations:    Fields:    Translation:Humans
  43. Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. PMID: 22771013.
    Citations: 3     Fields:    Translation:Humans
  44. Jamuar S, Lai A, Unger S, Nishimura G. Clinical and radiological findings in Pallister-Killian syndrome. Eur J Med Genet. 2012 Mar; 55(3):167-72. PMID: 22387057.
    Citations: 6     Fields:    Translation:HumansCells
  45. Jamuar SS, Lai AH, Tan AM, Chan MY, Tan ES, Ng IS. Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia. J Paediatr Child Health. 2011 Nov; 47(11):812-7. PMID: 21902752.
    Citations: 1     Fields:    Translation:Humans
  46. Fibach E, Tan ES, Jamuar S, Ng I, Amer J, Rachmilewitz EA. Amelioration of oxidative stress in red blood cells from patients with beta-thalassemia major and intermedia and E-beta-thalassemia following administration of a fermented papaya preparation. Phytother Res. 2010 Sep; 24(9):1334-8. PMID: 20127662.
    Citations: 4     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.