Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants. Eur J Med Genet. 2018 Oct; 61(10):621-626.
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.
Snak Y, Dwianingsih EK, Sumpono ASB, Panji R, Rahman A, Ghozali A, Amr SS
Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia. Case Rep Pathol. 2018; 2018:8270516.
Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia.
DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN
The Journal of molecular diagnostics : JMD
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. J Mol Diagn. 2018 11; 20(6):789-801.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
Aldossary MY, Alayed AA, Amr SS, Alqahtani S, Alnahawi M, Alqahtani MS
Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study. Ann Med Surg (Lond). 2018 Nov; 35:117-123.
Gallbladder cancer in Eastern Province of Saudi Arabia: A retrospective cohort study.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 11; 39(11):1593-1613.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP, Crosslin DR
The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype. Genet Epidemiol. 2019 02; 43(1):63-81.
The eMERGE genotype set of 83,717 subjects imputed to ~40?million variants genome wide and association with the herpes zoster medical record phenotype.
Aldossary MY, Alayed AA, Amr S, Alqahtani MS
International journal of surgery case reports
Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia. Int J Surg Case Rep. 2018; 51:186-189.
Primary squamous cell carcinoma of the gallbladder: Report of a rare neoplasm from the Eastern Province of Saudi Arabia.
Fowler C, Cserti-Gazdewich C, Dhabangi A, Musoke C, Sharma H, Amr SS, Dzik W
Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study. Malar J. 2018 Dec 13; 17(1):467.
Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.
Nadol JB, Hedley-Whyte ET, Amr SS, O Apos Malley JT, Kamakura T
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene. Audiol Neurootol. 2018; 23(6):326-334.
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
Alghamdi HM, Amr SS, Shawarby MA, Sheikh SS, Alsayyah AA, Alamri AM, Ismail MH, Almarhabi A, Alrefaee MA, Ahmed MI
Gastrointestinal stromal tumors. A clinicopathological study. Saudi Med J. 2019 Feb; 40(2):126-130.
Gastrointestinal stromal tumors. A clinicopathological study.
Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature. Case Rep Pathol. 2019; 2019:9697235.
Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS
Genetics in medicine : official journal of the American College of Medical Genetics
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Professor of Pathology and Health Sciences and Technology
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21(10):2409.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Professor of Otolaryngology Head and Neck Surgery
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genet Med. 2019 11; 21(11):2442-2452.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Mavrikaki M, Pantano L, Potter D, Rogers-Grazado MA, Anastasiadou E, Slack FJ, Amr SS, Ressler KJ, Daskalakis NP, Chartoff E
Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress. Front Mol Neurosci. 2019; 12:236.
Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress.
Li J, Kho AT, Chase RP, Pantano L, Farnam L, Amr SS, Tantisira KG
COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis. Sci Rep. 2020 03 12; 10(1):4552.
COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.
Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020 04 01; 3(4):e203959.
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. Front Cell Neurosci. 2020; 14:585669.
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
Nasralla A, Alwabari M, Alsaif O, Amr SS
Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location. Case Rep Surg. 2020; 2020:9037960.
Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location.
Malignant Glandular Triton Tumor Arising in the Radial Nerve with Prolonged Survival: A Case Report and Review of the Literature. Case Rep Pathol. 2021; 2021:4614185.
Malignant Glandular Triton Tumor Arising in the Radial Nerve with Prolonged Survival: A Case Report and Review of the Literature.
LaBelle J, Bowser M, Brown A, Farnam L, Kho A, Li J, McGeachie M, Chase R, Piehl S, Allen K, Hobbs BD, Weiss ST, Hersh C, Tantisira K, Amr SS
Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort. J Mol Diagn. 2021 06; 23(6):671-682.
Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort.
Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J, Scherzer CR
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. Nat Genet. 2021 06; 53(6):787-793.
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genet Med. 2021 11; 23(11):2208-2212.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Kho AT, McGeachie MJ, Li J, Chase RP, Amr SS, Hastie AT, Hawkins GA, Li X, Chupp GL, Meyers DA, Bleecker ER, Weiss ST, Tantisira KG
Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma. Thorax. 2022 05; 77(5):452-460.
Lung function, airway and peripheral basophils and eosinophils are associated with molecular pharmacogenomic endotypes of steroid response in severe asthma.
Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS
Automated Pharmacogenomic Reports for Clinical Genome Sequencing. J Mol Diagn. 2022 03; 24(3):205-218.
Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
Abu Baker MA, Al-Saraireh M, Amr Z, Amr SS, Warrell DA
Toxicon : official journal of the International Society on Toxinology
Snakebites in Jordan: A clinical and epidemiological study. Toxicon. 2022 Mar; 208:18-30.
Snakebites in Jordan: A clinical and epidemiological study.
Alorjani MS, Matalka II, Alfaqih MA, Jahmani RA, Alsinglawi BS, Nimri FM, Matalka MI, Amr SS
Soft Tissue Sarcomas: A 16-Year Experience of a Tertiary Referral Hospital in North Jordan. Medicina (Kaunas). 2022 Jan 27; 58(2).
Soft Tissue Sarcomas: A 16-Year Experience of a Tertiary Referral Hospital in North Jordan.
Tiwari A, Hobbs BD, Li J, Kho AT, Amr S, Celedón JC, Weiss ST, Hersh CP, Tantisira KG, McGeachie MJ
Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD. Noncoding RNA. 2022 Apr 03; 8(2).
Blood miRNAs Are Linked to Frequent Asthma Exacerbations in Childhood Asthma and Adult COPD.
Chen R, Diaz-Miranda MA, Aref-Eshghi E, Hartman TR, Griffith C, Morrison JL, Wheeler PG, Torti E, Richard G, Kenna M, Dechene ET, Spinner NB, Bai R, Conlin LK, Krantz ID, Amr SS, Luo M
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Hum Mutat. 2022 12; 43(12):1837-1843.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review. Case Rep Surg. 2022; 2022:6473197.
Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review.
Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas in a Patient with Ulcerative Colitis: A Case Report and Review of the Literature. Healthcare (Basel). 2023 Feb 12; 11(4).
Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas in a Patient with Ulcerative Colitis: A Case Report and Review of the Literature.
Mary Ellen Avery Professor of Pediatrics
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SS, Lebo MS, Nagy A, Peloso GM, Natarajan P, Rotter JI, Willer C, Boerwinkle E, Ballantyne CM, Lutsey PL, Fornage M, Lloyd-Jones DM, Hou L, Psaty BM, Bis JC, Floyd JS, Vasan RS, Heard-Costa NL, Carson AP, Hall ME, Rich SS, Guo X, Kazi DS, de Ferranti SD, Moran AE
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease. Circulation. 2023 05 16; 147(20):1556-1559.
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.
Ba-Shammakh SA, Haj-Freej HM, Al-Naggar YS, Ghanem W, Haij MZ, Al-Mohd F, Hijazi E, Amr SS
Massive Localized Lymphedema: Two Case Studies and Diagnostic Challenges. Cureus. 2023 Oct; 15(10):e47092.
Massive Localized Lymphedema: Two Case Studies and Diagnostic Challenges.
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 Mar 01; 9(3):263-271.
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Almontashiri NAM, Alharby E, Saleh M, Abu-Farha M, Alasmari A, Gebbia M, Hiesl C, Peake RWA, Amr SS, Boles E, Roth FP, Abubaker J
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder. Clin Genet. 2025 Feb; 107(2):201-207.
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time. Genet Med. 2025 May; 27(5):101392.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Lyapichev KA, Medeiros LJ, Sukswai N, Ng SB, Sheikh SS, Amr S, Shembade ND, Khoury JD
Virchows Archiv : an international journal of pathology
Perforin-2 is overexpressed in Kikuchi-Fujimoto disease. Virchows Arch. 2025 Sep; 487(3):535-541.
Perforin-2 is overexpressed in Kikuchi-Fujimoto disease.
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct; 81(4):673-83.
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40.
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biol Open. 2014 Apr 04; 3(5):342-52.
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.
Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014 Nov; 16(6):639-47.
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Hum Mutat. 2016 Jan; 37(1):119-26.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. Otol Neurotol. 2015 Dec; 36(10):1616-21.
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.
Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genet Med. 2016 07; 18(7):712-9.
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, Rehm HL, Amr SS
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med. 2016 06; 18(6):545-53.
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine. J Pers Med. 2016 Feb 26; 6(1).
The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.
Ceyhan-Birsoy O, Pugh TJ, Bowser MJ, Hynes E, Frisella AL, Mahanta LM, Lebo MS, Amr SS, Funke BH
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies. Mol Genet Genomic Med. 2016 Mar; 4(2):143-51.
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Sunshine S, Kirchner R, Amr SS, Mansur L, Shakhbatyan R, Kim M, Bosque A, Siliciano RF, Planelles V, Hofmann O, Ho Sui S, Li JZ
HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay. J Virol. 2016 May; 90(9):4511-4519.
HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay.
Basaria S, Jasuja R, Huang G, Wharton W, Pan H, Pencina K, Li Z, Travison TG, Bhawan J, Gonthier R, Labrie F, Dury AY, Serra C, Papazian A, O'Leary M, Amr S, Storer TW, Stern E, Bhasin S
The Journal of clinical endocrinology and metabolism
Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss. J Clin Endocrinol Metab. 2016 12; 101(12):4669-4680.
Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss.
Amr SS, Al Turki SH, Lebo M, Sarmady M, Rehm HL, Abou Tayoun AN
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genet Med. 2017 05; 19(5):496-504.
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.
Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. Genet Med. 2018 04; 20(5):536-544.
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Azab B, Dardas Z, Hamarsheh M, Alsalem M, Kilani Z, Kilani F, Awidi A, Jafar H, Amr S
Molecular genetics and metabolism reports
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree. Mol Genet Metab Rep. 2017 Sep; 12:76-79.
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
Chapter 16 - Targeted Hybrid Capture for Inherited Disease Panels,
Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer. Chapter 16 - Targeted Hybrid Capture for Inherited Disease Panels,. 2014; 1(1):251-269.
Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer
Juan J. Carmona, William P. Accomando Jr., Alexandra M. Binder, John N. Hutchinson, Lorena Pantano, Benedetta Izzi, Allan C. Just, Xihong Lin, Joel Schwartz, Pantel S. Vokonas, Sami S. Amr, Andrea A. Baccarelli & Karin B. Michels
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans. npj Genomic Medicine. 2017; 13(2):online.
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans
Low levels of apolipoprotein A1 are not contributors to the low lecithin-cholesterol acyl transferase activity in premature newborn infants. Pediatr Res. 1988 Aug; 24(2):191-3.
Low levels of apolipoprotein A1 are not contributors to the low lecithin-cholesterol acyl transferase activity in premature newborn infants.
Abu Khalaf A, Takrouri M, Toukan A, Abu Khalaf M, Amr S
Ketamine hydrochloride as sole anesthetic for open liver biopsy. Middle East J Anaesthesiol. 1988 Oct; 9(6):537-43.
Ketamine hydrochloride as sole anesthetic for open liver biopsy.
Intramuscular myxoma. Ann Chir Gynaecol. 1988; 77(2):78-80.
Carmona JJ, Accomando WP, Binder AM, Hutchinson JN, Pantano L, Izzi B, Just AC, Lin X, Schwartz J, Vokonas PS, Amr SS, Baccarelli AA, Michels KB
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans. NPJ Genom Med. 2017; 2:13.
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.
Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clin Chem. 2018 04; 64(4):705-714.
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.