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Heidi L. Rehm, Ph.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HG009174 (MURPHY, SHAWN N) Sep 28, 2016 - Aug 31, 2020
    NIH/NHGRI
    Developing i2b2 into a Health Innovation Platform for Clinical Decision Support in the Genomics Era
    Role: Co-Principal Investigator
  2. UM1HG008900 (MACARTHUR, DANIEL G) Jan 14, 2016 - Nov 30, 2019
    NIH/NHGRI
    Joint Center for Mendelian Genomics
    Role: Co-Principal Investigator
  3. U01HG008676 (REHM, HEIDI L) Sep 1, 2015 - May 31, 2019
    NIH/NHGRI
    EMERGE III CENTRAL SEQUENCING, GENOTYPING AND INTERPRETATION FACILITY
    Role: Co-Principal Investigator
  4. U41HG006834 (REHM, HEIDI L) Sep 23, 2013 - Jul 31, 2021
    NIH/NHGRI
    Clinical Genome Resource
    Role: Co-Principal Investigator
  5. R21DC007183 (REHM, HEIDI L) Dec 1, 2004 - Nov 30, 2007
    NIH/NIDCD
    Evaluation of a Deafness GeneChip
    Role: Principal Investigator

Bibliographic
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. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2018 Oct 05. PMID: 30287922.
    View in: PubMed
  2. Grant AR, Hemphill SE, Vincent LM, Rehm HL. Reclassification of the BRAF p.Ile208Val variant by case-level data sharing. Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5). PMID: 29945942.
    View in: PubMed
  3. Rehm H. Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing. Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5). PMID: 30275005.
    View in: PubMed
  4. Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 Sep 21. PMID: 30240502.
    View in: PubMed
  5. Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization. Genet Med. 2018 Sep 14. PMID: 30214068.
    View in: PubMed
  6. Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 Sep 07. PMID: 30192042.
    View in: PubMed
  7. Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2018 Sep 05. PMID: 30181607.
    View in: PubMed
  8. van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanovic R, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 Sep; 29(9):2348-2361. PMID: 30143558.
    View in: PubMed
  9. Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med. 2018 Aug 21. PMID: 30133189.
    View in: PubMed
  10. 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 Aug 08. PMID: 30096381.
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  11. Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P. Registered access: authorizing data access. Eur J Hum Genet. 2018 Aug 02. PMID: 30069064.
    View in: PubMed
  12. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4). PMID: 29728376.
    View in: PubMed
  13. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 Jul 09; 18(1):225. PMID: 29986673.
    View in: PubMed
  14. Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 Aug; 29(8):2123-2138. PMID: 29959197.
    View in: PubMed
  15. Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K. ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. Hum Mutat. 2018 Aug; 39(8):1051-1060. PMID: 29790234.
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  16. Riggs ER, Azzariti DR, Niehaus A, Goehringer SR, Ramos EM, Rodriguez LL, Knoppers B, Rehm HL, Martin CL. Development of a consent resource for genomic data sharing in the clinical setting. Genet Med. 2018 Jun 13. PMID: 29899502.
    View in: PubMed
  17. Lane WJ, Westhoff CM, Gleadall NS, Aguad M, Smeland-Wagman R, Vege S, Simmons DP, Mah HH, Lebo MS, Walter K, Soranzo N, Di Angelantonio E, Danesh J, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, Kaufman RM, Rehm HL, Silberstein LE, Green RC. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. Lancet Haematol. 2018 Jun; 5(6):e241-e251. PMID: 29780001.
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  18. Plon SE, Rehm HL. The Ancestral Pace of Variant Reclassification. J Natl Cancer Inst. 2018 May 10. PMID: 29757403.
    View in: PubMed
  19. Landry LG, Ali N, Williams DR, Rehm HL, Bonham VL. Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice. Health Aff (Millwood). 2018 05; 37(5):780-785. PMID: 29733732.
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  20. DeFilippis EM, Rehm H, Cirino AL, Lakdawala NK. The Lifespan of Genetic Testing. Am J Med. 2018 Sep; 131(9):991-992. PMID: 29680488.
    View in: PubMed
  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.
    View in: PubMed
  22. Landry LG, Rehm HL. Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy. JAMA Cardiol. 2018 Apr 01; 3(4):341-345. PMID: 29490334.
    View in: PubMed
  23. Volpi S, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Jacob HJ, Kasapi M, McLeod HL, Roden DM, Williams MS, Green ED, Rodriguez LL, Aronson S, Cavallari LH, Denny JC, Dressler LG, Johnson JA, Klein TE, Leeder JS, Piquette-Miller M, Perera M, Rasmussen-Torvik LJ, Rehm HL, Ritchie MD, Skaar TC, Wagle N, Weinshilboum R, Weitzel KW, Wildin R, Wilson J, Manolio TA, Relling MV. Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects. Clin Pharmacol Ther. 2018 May; 103(5):778-786. PMID: 29460415.
    View in: PubMed
  24. Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 Mar 22. PMID: 29565423.
    View in: PubMed
  25. Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Response to Biesecker and Harrison. Genet Med. 2018 Mar 15. PMID: 29543230.
    View in: PubMed
  26. Azzariti DR, Riggs ER, Niehaus A, Rodriguez LL, Ramos EM, Kattman B, Landrum MJ, Martin CL, Rehm HL. Points to consider for sharing variant-level information from clinical genetic testing with ClinVar. Cold Spring Harb Mol Case Stud. 2018 Feb; 4(1). PMID: 29437798.
    View in: PubMed
  27. 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 Apr; 64(4):705-714. PMID: 29339441.
    View in: PubMed
  28. Bush LW, Beck AE, Biesecker LG, Evans JP, Hamosh A, Holm IA, Martin CL, Richards CS, Rehm HL. Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 02; 20(2):169-171. PMID: 29323668.
    View in: PubMed
  29. Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, Santani A, Sarmady M, Rehm HL, Biesecker LG, Nickerson DA, Hutter CM, Garraway L, Muzny DM, Wagle N. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 08; 20(8):855-866. PMID: 29144510.
    View in: PubMed
  30. Rehm HL. Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs. Genet Med. 2018 03; 20(3):378-379. PMID: 29095813.
    View in: PubMed
  31. 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.
    View in: PubMed
  32. Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL. Matchmaker Exchange. Curr Protoc Hum Genet. 2017 10 18; 95:9.31.1-9.31.15. PMID: 29044468.
    View in: PubMed
  33. Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY. A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. Circ Cardiovasc Genet. 2017 Oct; 10(5). PMID: 29030401.
    View in: PubMed
  34. Deverka PA, Majumder MA, Villanueva AG, Anderson M, Bakker AC, Bardill J, Boerwinkle E, Bubela T, Evans BJ, Garrison NA, Gibbs RA, Gentleman R, Glazer D, Goldstein MM, Greely H, Harris C, Knoppers BM, Koenig BA, Kohane IS, La Rosa S, Mattison J, O'Donnell CJ, Rai AK, Rehm HL, Rodriguez LL, Shelton R, Simoncelli T, Terry SF, Watson MS, Wilbanks J, Cook-Deegan R, McGuire AL. Creating a data resource: what will it take to build a medical information commons? Genome Med. 2017 09 22; 9(1):84. PMID: 28938910.
    View in: PubMed
  35. Downie L, Halliday JL, Burt RA, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter M, Saunders K, Rose E, Rehm HL, Amor DJ. A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort. BMJ Paediatr Open. 2017; 1(1):e000119. PMID: 29637142.
    View in: PubMed
  36. Rehm HL, Harrison SM, Martin CL. ClinVar Is a Critical Resource to Advance Variant Interpretation. Oncologist. 2017 12; 22(12):1562. PMID: 28851762.
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  37. Rehm HL. A new era in the interpretation of human genomic variation. Genet Med. 2017 10; 19(10):1092-1095. PMID: 28703787.
    View in: PubMed
  38. Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M, Brudno M, Boycott KM, Philippakis AA, Rehm HL. "Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat. 2017 10; 38(10):1281-1285. PMID: 28699299.
    View in: PubMed
  39. Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 Jun 27. PMID: 28654958.
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  40. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 01; 100(6):895-906. PMID: 28552198.
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  41. Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. Genet Med. 2017 11; 19(11):1245-1252. PMID: 28471438.
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  42. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 2017 May 04; 100(5):695-705. PMID: 28475856.
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  43. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2017 05; 19(5):606. PMID: 28492529.
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  44. Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW. Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. Prenat Diagn. 2018 01; 38(1):26-32. PMID: 28345240.
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  45. Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, Rehm HL, Roy S, Tezak Z, Truty R, Ullman-Cullere M, Voelkerding KV, Worthey EA, Zaranek AW, Zook JM. Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings. J Mol Diagn. 2017 May; 19(3):417-426. PMID: 28315672.
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  46. Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104. PMID: 28301460.
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  47. Rehm HL. Evolving health care through personal genomics. Nat Rev Genet. 2017 04; 18(4):259-267. PMID: 28138143.
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  48. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). PMID: 28096516.
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  49. Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 01 12; 9(1):3. PMID: 28081714.
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  50. Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. PMID: 28079900.
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  51. Noonan KY, Russo J, Shen J, Rehm H, Halbach S, Hopp E, Noon S, Hoover J, Eskey C, Saunders JE. CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence? Otol Neurotol. 2016 12; 37(10):1583-1588. PMID: 27631835.
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  52. Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL, Peloso GM, Wilson JG, Correa A, Seidman JG, Seidman CE, Kathiresan S, Green RC. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Sci Transl Med. 2016 11 09; 8(364):364ra151. PMID: 27831900.
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  53. O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. PMID: 27811861.
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  54. Rehm HL. Rapid access to genetic discoveries underlying human disease. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001545. PMID: 27900371.
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  55. 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.
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  56. Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS. Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med. 2016 Aug 18; 375(7):655-65. PMID: 27532831.
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  57. Lennerz JK, McLaughlin HM, Baron JM, Rasmussen D, Sumbada Shin M, Berners-Lee N, Miller Batten J, Swoboda KJ, Gala MK, Winter HS, Schmahmann JD, Sweetser DA, Boswell M, Pacula M, Stenzinger A, Le LP, Hynes W, Rehm HL, Klibanski A, Black-Schaffer SW, Golden JA, Louis DN, Weiss ST, Iafrate AJ. Health Care Infrastructure for Financially Sustainable Clinical Genomics. J Mol Diagn. 2016 09; 18(5):697-706. PMID: 27471182.
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  58. Caudle KE, Dunnenberger HM, Freimuth RR, Peterson JF, Burlison JD, Whirl-Carrillo M, Scott SA, Rehm HL, Williams MS, Klein TE, Relling MV, Hoffman JM. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 2017 02; 19(2):215-223. PMID: 27441996.
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  59. Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 07 07; 99(1):247. PMID: 27392081.
    View in: PubMed
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  65. Blumenstiel B, DeFelice M, Birsoy O, Bleyer AJ, Kmoch S, Carter TA, Gnirke A, Kidd K, Rehm HL, Ronco L, Lander ES, Gabriel S, Lennon NJ. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. J Mol Diagn. 2016 07; 18(4):566-71. PMID: 27157321.
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  71. Lane WJ, Westhoff CM, Uy JM, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Green RC, Silberstein LE. Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle. Transfusion. 2016 Mar; 56(3):743-54. PMID: 26634332; PMCID: PMC5019240.
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  73. Lawler M, Siu LL, Rehm HL, Chanock SJ, Alterovitz G, Burn J, Calvo F, Lacombe D, Teh BT, North KN, Sawyers CL. All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. Cancer Discov. 2015 Nov; 5(11):1133-6. PMID: 26526696.
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  77. Nussbaum RL, Rehm HL. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1379. PMID: 26430707.
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  89. Kong SW, Lee IH, Leshchiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA. Summarizing polygenic risks for complex diseases in a clinical whole-genome report. Genet Med. 2015 Jul; 17(7):536-44. PMID: 25341114; PMCID: PMC4547452.
  90. 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.
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  95. Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014 Apr; 16(4):347-55. PMID: 24651602.
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  97. Ben-Salem S, Rehm HL, Willems PJ, Tamimi ZA, Ayadi H, Ali BR, Al-Gazali L. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. Mol Biol Rep. 2014 Jan; 41(1):193-200. PMID: 24194196.
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  99. Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7. PMID: 24195999; PMCID: PMC3935342.
  100. Wilcox AR, Neri PM, Volk LA, Newmark LP, Clark EH, Babb LJ, Varugheese M, Aronson SJ, Rehm HL, Bates DW. A novel clinician interface to improve clinician access to up-to-date genetic results. J Am Med Inform Assoc. 2014 Feb; 21(e1):e117-21. PMID: 24013137; PMCID: PMC3957398.
  101. Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A. 2013 Sep; 161A(9):2134-47. PMID: 23897863; PMCID: PMC3745548.
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  103. Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A. 2013 Sep; 161A(9):2148-57. PMID: 23873582; PMCID: PMC3745519.
  104. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul; 15(7):565-74. PMID: 23788249.
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  107. Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY. Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat. 2013 Apr; 34(4):661-6. PMID: 23401191; PMCID: PMC4130157.
  108. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013 04; 14(4):295-300. PMID: 23478348; PMCID: PMC3786217.
  109. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12):4667-72. PMID: 23487782; PMCID: PMC3607045.
  110. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013 Mar; 15(2):158-70. PMID: 23274168.
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  111. Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012 Nov; 30(11):1033-6. PMID: 23138292; PMCID: PMC3827024.
  112. Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, O'Donnell CJ, Wilson JG, Altshuler DM, Hirschhorn JN, Seidman JG, Seidman C. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012 Sep 07; 91(3):513-9. PMID: 22958901; PMCID: PMC3511985.
  113. Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow MJ, Cano C, Chou MF, Chung WK, Douglas SM, Estep PW, Gore A, Hulick P, Labarga A, Lee JH, Lunshof JE, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters BA, Raman AM, Rienhoff HY, Robasky K, Wheeler MT, Vandewege W, Vorhaus DB, Yang JL, Yang L, Aach J, Ashley EA, Drmanac R, Kim SJ, Li JB, Peshkin L, Seidman CE, Seo JS, Zhang K, Rehm HL, Church GM. A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A. 2012 Jul 24; 109(30):11920-7. PMID: 22797899; PMCID: PMC3409785.
  114. Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012 Aug; 158A(8):1909-17. PMID: 22786811.
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  115. Neri PM, Pollard SE, Volk LA, Newmark LP, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Usability of a novel clinician interface for genetic results. J Biomed Inform. 2012 Oct; 45(5):950-7. PMID: 22521718; PMCID: PMC3426649.
  116. Aronson SJ, Clark EH, Varugheese M, Baxter S, Babb LJ, Rehm HL. Communicating new knowledge on previously reported genetic variants. Genet Med. 2012 Apr 05. PMID: 22481129.
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  117. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. PMID: 22422049; PMCID: PMC3763716.
  118. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. PMID: 22464770; PMCID: PMC3666099.
  119. Brown KK, Rehm HL. Molecular diagnosis of hearing loss. Curr Protoc Hum Genet. 2012 Jan; Chapter 9:Unit 9.16. PMID: 22241658.
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  120. Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A. 2012 Feb; 158A(2):298-308. PMID: 22147502; PMCID: PMC3264741.
  121. Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci. 2011 Oct 07; 52(11):7924-36. PMID: 21873662; PMCID: PMC3263772.
  122. Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011 Nov; 48(11):767-75. PMID: 21940737.
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  123. Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011 Sep; 7(9):e1002280. PMID: 21935354; PMCID: PMC3174201.
  124. Teekakirikul P, Cox S, Funke B, Rehm HL. Targeted sequencing using Affymetrix CustomSeq Arrays. Curr Protoc Hum Genet. 2011 Apr; Chapter 7:Unit7.18. PMID: 21480183; PMCID: PMC4528188.
  125. Aronson SJ, Clark EH, Babb LJ, Baxter S, Farwell LM, Funke BH, Hernandez AL, Joshi VA, Lyon E, Parthum AR, Russell FJ, Varugheese M, Venman TC, Rehm HL. The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Hum Mutat. 2011 May; 32(5):532-6. PMID: 21432942.
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  126. Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am J Hum Genet. 2011 Feb 11; 88(2):183-92. PMID: 21310275; PMCID: PMC3035712.
  127. Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD. Temporal bone abnormalities in children with GJB2 mutations. Laryngoscope. 2011 Mar; 121(3):630-5. PMID: 21298644; PMCID: PMC3061391.
  128. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol. 2011 Feb; 29(2):117-8. PMID: 21301433.
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  129. Caleshu C, Day S, Rehm HL, Baxter S. Use and interpretation of genetic tests in cardiovascular genetics. Heart. 2010 Oct; 96(20):1669-75. PMID: 20937756.
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  130. Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. J Mol Diagn. 2010 Nov; 12(6):818-27. PMID: 20864638; PMCID: PMC2963910.
  131. Rehm HL. Translating research discoveries into clinical tests. Semin Nephrol. 2010 Jul; 30(4):426-30. PMID: 20807615.
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  132. Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010 May; 12(5):268-78. PMID: 20474083; PMCID: PMC3018746.
  133. Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, Ho CY, Hurst S, Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res. 2010 May 14; 106(9):1549-52. PMID: 20378854; PMCID: PMC2893345.
  134. Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol. 2010 Feb 10; 10:10. PMID: 20146813; PMCID: PMC2841091.
  135. Kenna MA, Feldman HA, Neault MW, Frangulov A, Wu BL, Fligor B, Rehm HL. Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. Arch Otolaryngol Head Neck Surg. 2010 Jan; 136(1):81-7. PMID: 20083784; PMCID: PMC4528189.
  136. Maron BJ, Lesser JR, Schiller NB, Harris KM, Brown C, Rehm HL. Implications of hypertrophic cardiomyopathy transmitted by sperm donation. JAMA. 2009 Oct 21; 302(15):1681-4. PMID: 19843903.
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  137. Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 2009 Jul; 6(7):507-10. PMID: 19543287; PMCID: PMC2773433.
  138. Kothiyal P, Cox S, Ebert J, Aronow BJ, Greinwald JH, Rehm HL. An overview of custom array sequencing. Curr Protoc Hum Genet. 2009 Apr; Chapter 7:Unit 7.17. PMID: 19360699; PMCID: PMC4528186.
  139. Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ. Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1886-94. PMID: 19074810.
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  140. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908. PMID: 18403758; PMCID: PMC2752150.
  141. Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID. Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? Am J Med Genet A. 2007 Jul 15; 143A(14):1560-6. PMID: 17455295.
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  142. Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul; 9(7):413-26. PMID: 17666888.
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  143. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005 Dec; 77(6):945-57. PMID: 16380907; PMCID: PMC1285178.
  144. Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL. Audiologic features of Norrie disease. Ann Otol Rhinol Laryngol. 2005 Jul; 114(7):533-8. PMID: 16134349.
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  145. Rehm HL. A genetic approach to the child with sensorineural hearing loss. Semin Perinatol. 2005 Jun; 29(3):173-81. PMID: 16114580.
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  146. Roberts AE, Hult B, Rehm HL, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman JG, Kucherlapati RS. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Jan 30; 132A(3):333-4. PMID: 15578621.
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  147. Rehm HL. Molecular diagnosis of hearing loss. Curr Protoc Hum Genet. 2004 Nov; Chapter 9:Unit9.16. PMID: 18428366.
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  148. Corey DP, García-Añoveros J, Holt JR, Kwan KY, Lin SY, Vollrath MA, Amalfitano A, Cheung EL, Derfler BH, Duggan A, Géléoc GS, Gray PA, Hoffman MP, Rehm HL, Tamasauskas D, Zhang DS. TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells. Nature. 2004 Dec 09; 432(7018):723-30. PMID: 15483558.
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  149. Rehm HL. Genetics and the genome project. Ear Hear. 2003 Aug; 24(4):270-4. PMID: 12923418.
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  150. Pfister MH, Rehm HL. Glossary for hereditary hearing impairment. Ear Hear. 2003 Aug; 24(4):260-5. PMID: 12923416.
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  151. Alford RL, Friedman TB, Keats BJ, Kimberling WJ, Proud VK, Smith RJ, Arnos KS, Korf BR, Rehm HL, Toriello HV. Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics. Genet Med. 2003 Jul-Aug; 5(4):338-41. PMID: 12865764.
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  152. Rehm HL, Zhang DS, Brown MC, Burgess B, Halpin C, Berger W, Morton CC, Corey DP, Chen ZY. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. 2002 Jun 01; 22(11):4286-92. PMID: 12040033.
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  153. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep; 127(9):1037-42. PMID: 11556849.
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  154. Rehm HL, Morton CC. A new age in the genetics of deafness. Genet Med. 1999 Sep-Oct; 1(6):295-302; quiz 303. PMID: 11258632.
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  155. Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998 Jun 12; 280(5370):1753-7. PMID: 9624053.
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  156. Rehm HL, Gutiérrez-Espeleta GA, Garcia R, Jiménez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum Mutat. 1997; 9(5):402-8. PMID: 9143918.
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  157. Cluss RG, Goel AS, Rehm HL, Schoenecker JG, Boothby JT. Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock. Infect Immun. 1996 May; 64(5):1736-43. PMID: 8613385; PMCID: PMC173986.
  158. Newitt RA, Houamed KM, Rehm H, Tempel BL. Potassium channels and epilepsy: evidence that the epileptogenic toxin, dendrotoxin, binds to potassium channel proteins. Epilepsy Res Suppl. 1991; 4:263-73. PMID: 1815606.
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  159. Thomas L, Hartung K, Langosch D, Rehm H, Bamberg E, Franke WW, Betz H. Identification of synaptophysin as a hexameric channel protein of the synaptic vesicle membrane. Science. 1988 Nov 18; 242(4881):1050-3. PMID: 2461586.
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  160. Betz H, Graham D, Rehm H. Identification of polypeptides associated with a putative neuronal nicotinic acetylcholine receptor. J Biol Chem. 1982 Oct 10; 257(19):11390-4. PMID: 7118888.
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.