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Sami S. Amr, Ph.D. - Publications

Affiliations: 
2010 Human Genetics Virginia Commonwealth University, Richmond, VA, United States 
Area:
Genetics
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32 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 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, et al. Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Human Mutation. PMID 35870179 DOI: 10.1002/humu.24443  0.38
2021 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, ... ... Amr SS, et al. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34230634 DOI: 10.1038/s41436-021-01254-2  0.32
2021 Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies. Genes. 12. PMID 33921607 DOI: 10.3390/genes12040593  0.368
2021 Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Van HC, Abramowicz M, Paoloni-Giacobino A, Guipponi M. Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients. Human Mutation. PMID 33492714 DOI: 10.1002/humu.24167  0.389
2021 Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, ... Amr SS, et al. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European Journal of Human Genetics : Ejhg. PMID 33398081 DOI: 10.1038/s41431-020-00790-w  0.355
2020 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. Frontiers in Cellular Neuroscience. 14: 585669. PMID 33281559 DOI: 10.3389/fncel.2020.585669  0.397
2020 Abu-Ameerh M, Mohammad H, Dardas Z, Barham R, Ali D, Bijawi M, Tawalbeh M, Amr S, Hatmal MM, Al-Bdour M, Awidi A, Azab B. Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. Molecular Genetics & Genomic Medicine. e1123. PMID 31968401 DOI: 10.1002/Mgg3.1123  0.465
2019 Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA. Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints. Molecular Genetics & Genomic Medicine. e806. PMID 31218851 DOI: 10.1002/Mgg3.806  0.384
2019 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, ... ... Amr SS, et al. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31160754 DOI: 10.1038/S41436-019-0535-9  0.324
2019 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, ... ... Amr SS, et al. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31114025 DOI: 10.1038/S41436-019-0553-7  0.403
2019 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, ... ... Amr SS, et al. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30894701 DOI: 10.1038/S41436-019-0487-0  0.433
2019 Azab B, Barham R, Ali D, Dardas Z, Rashdan L, Bijawi M, Maswadi R, Awidi A, Jafar H, Abu-Ameerh M, Al-Bdour M, Amr S, Awidi A. Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies. Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie. 54: 51-59. PMID 30851774 DOI: 10.1016/J.Jcjo.2018.02.018  0.37
2019 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. Audiology & Neuro-Otology. 23: 326-334. PMID 30677751 DOI: 10.1159/000495176  0.366
2018 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. Malaria Journal. 17: 467. PMID 30545357 DOI: 10.1186/S12936-018-2618-5  0.341
2018 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, ... ... Amr SS, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human Mutation. 39: 1593-1613. PMID 30311386 DOI: 10.1002/Humu.23630  0.432
2018 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, ... ... Amr SS, et al. The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. Genetic Epidemiology. PMID 30298529 DOI: 10.1002/Gepi.22167  0.312
2018 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. Curating clinically relevant transcripts for the interpretation of sequence variants. The Journal of Molecular Diagnostics : Jmd. PMID 30096381 DOI: 10.1016/J.Jmoldx.2018.06.005  0.466
2018 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. European Journal of Medical Genetics. PMID 29655801 DOI: 10.1016/J.Ejmg.2018.04.006  0.52
2018 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. Clinical Chemistry. PMID 29339441 DOI: 10.1373/Clinchem.2017.280685  0.423
2017 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 Genomic Medicine. 2: 13. PMID 29263828 DOI: 10.1038/S41525-017-0012-9  0.319
2017 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29048421 DOI: 10.1038/Gim.2017.143  0.428
2017 Azab B, Dardas Z, Hamarsheh M, Alsalem M, Kilani Z, Kilani F, Awidi A, Jafar H, Amr S. Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree. Molecular Genetics and Metabolism Reports. 12: 76-79. PMID 28649516 DOI: 10.1016/J.Ymgmr.2017.06.001  0.431
2016 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27657688 DOI: 10.1038/Gim.2016.134  0.357
2016 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. Molecular Genetics & Genomic Medicine. 4: 143-51. PMID 27066507 DOI: 10.1002/Mgg3.187  0.425
2016 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. Human Mutation. 37: 119-26. PMID 26444186 DOI: 10.1002/Humu.22912  0.473
2016 Nadol JB, Handzel O, Amr S. Histopathology of the human inner ear in a patient with sensorineural hearing loss caused by a variant in DFNA5 Otology and Neurotology. 36: 1616-1621. DOI: 10.1097/Mao.0000000000000888  0.395
2015 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. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26562227 DOI: 10.1038/Gim.2015.141  0.514
2015 Nadol JB, Handzel O, Amr S. Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 36: 1616-21. PMID 26496673 DOI: 10.1097/MAO.0000000000000888  0.321
2014 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. The Journal of Molecular Diagnostics : Jmd. 16: 639-47. PMID 25157971 DOI: 10.1016/J.Jmoldx.2014.06.003  0.478
2014 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. Biology Open. 3: 342-52. PMID 24705017 DOI: 10.1242/Bio.20147559  0.625
2013 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. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 162: 832-40. PMID 24019301 DOI: 10.1002/Ajmg.B.32187  0.388
2007 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. American Journal of Human Genetics. 81: 673-83. PMID 17846994 DOI: 10.1086/520961  0.615
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