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Sami Samir Amr, Ph.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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. 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 Apr 01; 3(4):e203959. PMID: 32347951.
    Citations:    
  2. 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 Mar 12; 10(1):4552. PMID: 32165660.
    Citations:    
  3. Sukswai N, Jung HR, Amr SS, Ng SB, Sheikh SS, Lyapichev K, El Hussein S, Loghavi S, Agbay RLMC, Miranda RN, Medeiros LJ, Khoury JD. Immunopathology of Kikuchi-Fujimoto Disease: A reappraisal using novel immunohistochemistry combinations. Histopathology. 2019 Dec 19. PMID: 31854007.
    Citations:    
  4. 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. PMID: 31636537.
    Citations:    
  5. 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. Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 Oct; 21(10):2409. PMID: 31114025.
    Citations:    
  6. Dwianingsih EK, Snak Y, Rinonce HT, Wasita B, Antoro EL, Amr SS. Primary Chordoma of the Nasopharynx: A Rare Case Report and Review of the Literatures. Case Rep Pathol. 2019; 2019:3826521. PMID: 31662933.
    Citations:    
  7. Chaudhry I, Algazal T, Cheema A, Al Faraj A, Al Malki N, Mutairi H, Abbas A, Amr S. Mediastinal malignant triton tumor: A rare case series and review of literature. Int J Surg Case Rep. 2019; 62:115-119. PMID: 31494456.
    Citations:    
  8. 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. PMID: 31160754.
    Citations:    
  9. Alnashwan YA, Ali KAH, Amr SS. Metastasizing Malignant Granular Cell Tumor (Abrikossoff Tumor) of the Anterior Abdominal Wall, with Prolonged Survival. Case Rep Pathol. 2019; 2019:9576487. PMID: 31080684.
    Citations:    
  10. 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. ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 2019 10; 21(10):2239-2247. PMID: 30894701.
    Citations:    
  11. Alratroot JA, Joudeh AA, Amr SS. 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. PMID: 30881717.
    Citations:    
  12. 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. PMID: 30723856.
    Citations:    
  13. 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. PMID: 30677751.
    Citations:    Fields:    
  14. 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. PMID: 30545357.
    Citations:    Fields:    
  15. 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. PMID: 30311386.
    Citations:    Fields:    
  16. 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. PMID: 30298529.
    Citations:    Fields:    
  17. 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. PMID: 30294442.
    Citations:    
  18. Aldossary MY, Alayed AA, Amr S, Alqahtani MS. 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. PMID: 30176555.
    Citations:    
  19. 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. J Mol Diagn. 2018 11; 20(6):789-801. PMID: 30096381.
    Citations: 2     Fields:    
  20. 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. PMID: 29977637.
    Citations:    
  21. 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. PMID: 29655801.
    Citations:    Fields:    Translation:Humans
  22. 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. PMID: 29339441.
    Citations:    Fields:    
  23. 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. PMID: 29048421.
    Citations:    Fields:    Translation:HumansPHPublic Health
  24. 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. Mol Genet Metab Rep. 2017 Sep; 12:76-79. PMID: 28649516.
    Citations:    
  25. 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. View Publication.
  26. 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. PMID: 29263828.
    Citations:    
  27. 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. Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss. J Clin Endocrinol Metab. 2016 12; 101(12):4669-4680. PMID: 27662439.
    Citations: 3     Fields:    Translation:Humans
  28. 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. PMID: 27657688.
    Citations: 3     Fields:    Translation:Humans
  29. 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. PMID: 26912621.
    Citations: 5     Fields:    Translation:HumansCells
  30. Blau A, Brown A, Mahanta L, Amr SS. The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine. J Pers Med. 2016 Feb 26; 6(1). PMID: 26927185.
    Citations: 2     
  31. 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. PMID: 26681316.
    Citations: 7     Fields:    Translation:Humans
  32. 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. PMID: 27066507.
    Citations: 3     Fields:    
  33. 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. Otol Neurotol. 2015 Dec; 36(10):1616-21. PMID: 26496673.
    Citations: 2     Fields:    Translation:Humans
  34. 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. PMID: 26562227.
    Citations: 9     Fields:    Translation:Humans
  35. 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. PMID: 26444186.
    Citations: 6     Fields:    Translation:Humans
  36. Sami S. Amr, Birgit Funke. Clinical Genomics Edited by:Shashikant Kulkarni and John Pfeifer. Chapter 16 - Targeted Hybrid Capture for Inherited Disease Panels,. 2014; 1(1):251-269.
  37. 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. PMID: 25157971.
    Citations: 5     Fields:    Translation:HumansCells
  38. 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. PMID: 24705017.
    Citations: 1     
  39. 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. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40. PMID: 24019301.
    Citations: 6     Fields:    Translation:HumansCells
  40. 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. PMID: 17846994.
    Citations: 57     Fields:    Translation:HumansCells
  41. 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. PMID: 3211082.
    Citations:    Fields:    Translation:Humans
  42. Amr S, Chowdhry P, Hamosh P, Hamosh M. 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. PMID: 3186331.
    Citations:    Fields:    Translation:Humans
  43. Jaser NA, Amr SS. Intramuscular myxoma. Ann Chir Gynaecol. 1988; 77(2):78-80. PMID: 3069040.
    Citations:    Fields:    Translation:Humans
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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.