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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. Amr YS, Saleh MM, Amr SS. Giant Ectopic Parathyroid Adenoma Arising in the Posterior Mediastinum. Report of Case and a Review. Case Rep Surg. 2022; 2022:6473197. PMID: 36407056; PMCID: PMC9668461.
  2. 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 Dec; 43(12):1837-1843. PMID: 35870179.
    Citations:    Fields:    
  3. 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). PMID: 35447890; PMCID: PMC9030787.
  4. 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). PMID: 35208522; PMCID: PMC8878199.
    Citations:    Fields:    Translation:Humans
  5. 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. PMID: 35041930.
    Citations: 1     Fields:    Translation:Humans
  6. Abu Baker MA, Al-Saraireh M, Amr Z, Amr SS, Warrell DA. Snakebites in Jordan: A clinical and epidemiological study. Toxicon. 2022 Mar; 208:18-30. PMID: 35026216.
    Citations:    Fields:    Translation:HumansAnimals
  7. 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. PMID: 34580195; PMCID: PMC9016241.
    Citations:    Fields:    Translation:HumansCells
  8. 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. PMID: 34230634; PMCID: PMC8556313.
    Citations: 2     Fields:    Translation:Humans
  9. 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. PMID: 33958783; PMCID: PMC8459648.
    Citations: 11     Fields:    Translation:HumansCells
  10. 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. PMID: 33872788; PMCID: PMC8207476.
    Citations: 4     Fields:    Translation:Humans
  11. AlAli BM, Amr SS. 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. PMID: 33791136.
  12. 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. PMID: 33281559.
    Citations: 3     
  13. 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. PMID: 33489405.
    Citations: 2     
  14. 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. PMID: 32347951.
    Citations: 21     Fields:    Translation:Humans
  15. 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. PMID: 32165660.
    Citations: 5     Fields:    Translation:Humans
  16. 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; PMCID: PMC6788329.
    Citations: 7     
  17. 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: 2     Fields:    
  18. 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; PMCID: PMC7235630.
    Citations: 15     Fields:    Translation:Humans
  19. 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; PMCID: PMC7280024.
    Citations: 29     Fields:    Translation:Humans
  20. 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; PMCID: PMC6381573.
    Citations: 2     
  21. 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; PMCID: PMC6402471.
    Citations: 2     Fields:    Translation:Humans
  22. 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; PMCID: PMC6421093.
    Citations: 3     Fields:    Translation:HumansCells
  23. 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; PMCID: PMC6293624.
    Citations: 2     Fields:    Translation:HumansCells
  24. 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; PMCID: PMC6188673.
    Citations: 120     Fields:    Translation:Humans
  25. 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; PMCID: PMC6375696.
    Citations: 26     Fields:    Translation:HumansCells
  26. 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; PMCID: PMC6170934.
    Citations: 6     
  27. 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; PMCID: PMC6120602.
    Citations: 4     
  28. 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: 10     Fields:    Translation:Humans
  29. 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; PMCID: PMC5994262.
    Citations: 2     
  30. 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: 1     Fields:    Translation:Humans
  31. 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: 6     Fields:    Translation:Humans
  32. 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; PMCID: PMC5929117.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  33. 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; PMCID: PMC5470527.
    Citations: 2     
  34. 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; PMCID: PMC5642382.
    Citations: 12     
  35. 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.
  36. 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; PMCID: PMC5155688.
    Citations: 18     Fields:    Translation:Humans
  37. 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: 9     Fields:    Translation:Humans
  38. 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; PMCID: PMC4836361.
    Citations: 28     Fields:    Translation:HumansCells
  39. 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; PMCID: PMC4810389.
    Citations: 2     
  40. 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; PMCID: PMC4940431.
    Citations: 30     Fields:    Translation:Humans
  41. 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; PMCID: PMC4799872.
    Citations: 12     Fields:    
  42. 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: 11     Fields:    Translation:Humans
  43. 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: 23     Fields:    Translation:Humans
  44. 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: 22     Fields:    Translation:Humans
  45. 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.
  46. 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: 27     Fields:    Translation:HumansCells
  47. 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: 5     Fields:    
  48. 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: 8     Fields:    Translation:HumansCells
  49. 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: 105     Fields:    Translation:HumansCells
  50. 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
  51. 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
  52. 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.