Contact, publication, and social network information about Harvard faculty and fellows. Harvard Catalyst Profiles
Keywords
Last Name
Institution

profileHeidi L. Rehm, Ph.D.

TitleAssociate Professor of Pathology
InstitutionBrigham and Women's Hospital
DepartmentPathology
AddressBWH - Affiliate
65 Landsdowne St
Cambridge MA 02139
Phone617/768-8291
Fax617/768-8513
vCardDownload vCard (login for email)

Collapse Research 
Collapse research activities and funding
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.
R01HG009174     (ARONSON, SAMUEL JEFFREY)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

UM1HG008900     (MACARTHUR, DANIEL G)Jan 14, 2016 - Nov 30, 2019
NIH/NHGRI
Joint Center for Mendelian Genomics
Role: Co-Principal Investigator

U01HG008676     (FUNKE, BIRGIT)Sep 1, 2015 - May 31, 2019
NIH/NHGRI
EMERGE III CENTRAL SEQUENCING, GENOTYPING AND INTERPRETATION FACILITY
Role: Co-Principal Investigator

U41HG006834     (LEDBETTER, DAVID H.)Sep 23, 2013 - Jul 31, 2017
NIH/NHGRI
A Unified Clinical Genomics Database
Role: Co-Principal Investigator

R21DC007183     (REHM, HEIDI L)Dec 1, 2004 - Nov 30, 2007
NIH/NIDCD
Evaluation of a Deafness GeneChip
Role: Principal Investigator

Collapse Bibliographic 
Collapse selected publications
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.
List All   |   Timeline
  1. 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.
    View in: PubMed
  2. 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 Sep; 18(5):697-706. PMID: 27471182.
    View in: PubMed
  3. Klinkenberg-Ramirez S, Neri PM, Volk LA, Samaha SJ, Newmark LP, Pollard S, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. Appl Clin Inform. 2016; 7(2):461-76. PMID: 27437054.
    View in: PubMed
  4. 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 Jun 2; 98(6):1067-76. PMID: 27181684.
    View in: PubMed
  5. Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2; 98(6):1051-66. PMID: 27181682.
    View in: PubMed
  6. 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 Jul; 18(4):566-71. PMID: 27157321.
    View in: PubMed
  7. Harrison SM, Riggs ER, Maglott DR, Lee JM, Azzariti DR, Niehaus A, Ramos EM, Martin CL, Landrum MJ, Rehm HL. Using ClinVar as a Resource to Support Variant Interpretation. Curr Protoc Hum Genet. 2016 Apr 01; 89:8.16.1-8.16.23. PMID: 27037489.
    View in: PubMed
  8. Rehm HL, Hynes E, Funke BH. The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers. J Pers Med. 2016 Jan 27; 6(1). PMID: 26828522.
    View in: PubMed
  9. Dyke SO, Philippakis AA, Rambla De Argila J, Paltoo DN, Luetkemeier ES, Knoppers BM, Brookes AJ, Spalding JD, Thompson M, Roos M, Boycott KM, Brudno M, Hurles M, Rehm HL, Matern A, Fiume M, Sherry ST. Consent Codes: Upholding Standard Data Use Conditions. PLoS Genet. 2016 Jan; 12(1):e1005772. PMID: 26796797.
    View in: PubMed
  10. Aronson S, Mahanta L, Ros LL, Clark E, Babb L, Oates M, Rehm H, Lebo M. Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. J Pers Med. 2016 Jan 20; 6(1). PMID: 26805890.
    View in: PubMed
  11. 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 Jul; 18(7):712-9. PMID: 26681316.
    View in: PubMed
  12. 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.
    View in: PubMed
  13. 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 Jun; 18(6):545-53. PMID: 26562227.
    View in: PubMed
  14. 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.
    View in: PubMed
  15. Aronson SJ, Rehm HL. Building the foundation for genomics in precision medicine. Nature. 2015 Oct 15; 526(7573):336-42. PMID: 26469044.
    View in: PubMed
  16. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. PMID: 26295439; PMCID: PMC4610002 [Available on 10/01/16].
  17. Nussbaum RL, Rehm HL. ClinGen and Genetic Testing. N Engl J Med. 2015 Oct; 373(14):1379. PMID: 26430707.
    View in: PubMed
  18. Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol. 2015 Jul; 33(7):689-93. PMID: 26154004.
    View in: PubMed
  19. Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS. Global implementation of genomic medicine: We are not alone. Sci Transl Med. 2015 Jun 3; 7(290):290ps13. PMID: 26041702.
    View in: PubMed
  20. Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015 Sep; 3(5):413-23. PMID: 26436107; PMCID: PMC4585449.
  21. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Apr; 17(4):319. PMID: 25835197.
    View in: PubMed
  22. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May; 17(5):405-24. PMID: 25741868; PMCID: PMC4544753.
  23. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar; 25(3):305-15. PMID: 25637381; PMCID: PMC4352885.
  24. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov; 17(11):880-8. PMID: 25611685.
    View in: PubMed
  25. Vassy JL, McLaughlin HM, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics. 2015; 18(2):123-9. PMID: 25612602; PMCID: PMC4348325 [Available on 01/21/16].
  26. McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14; 15:134. PMID: 25714468; PMCID: PMC4342199.
  27. 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.
  28. 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.
    View in: PubMed
  29. Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA, Burke W. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 5; 94(6):818-26. PMID: 24814192; PMCID: PMC4121476.
  30. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. PMID: 24759409; PMCID: PMC4180223.
  31. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzynski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrecic L, Palandacic A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. PMID: 24667040; PMCID: PMC4073084.
  32. 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.
    View in: PubMed
  33. Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014 Mar 20; 15:85. PMID: 24645908; PMCID: PMC4113228.
  34. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug; 16(8):601-8. PMID: 24503780.
    View in: PubMed
  35. 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.
    View in: PubMed
  36. Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov; 84(5):453-63. PMID: 24033266; PMCID: PMC3995020.
  37. 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.
  38. 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.
  39. 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.
  40. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013 Sep; 15(9):733-47. PMID: 23887774; PMCID: PMC4098820.
  41. 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; PMCID: PMC3727274.
  42. Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013 Apr 10; 309(14):1511-21. PMID: 23571590.
    View in: PubMed
  43. Riggs ER, Wain KE, Riethmaier D, Savage M, Smith-Packard B, Kaminsky EB, Rehm HL, Martin CL, Ledbetter DH, Faucett WA. Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting. Hum Mutat. 2013 Jun; 34(6):915-9. PMID: 23463607; PMCID: PMC3663929.
  44. 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.
  45. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013 Apr; 14(4):295-300. PMID: 23478348; PMCID: PMC3786217.
  46. 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.
    View in: PubMed
  47. 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.
  48. 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.
  49. 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.
    View in: PubMed
  50. 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.
  51. 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.
    View in: PubMed
  52. 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.
  53. 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.
  54. 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.
    View in: PubMed
  55. 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.
  56. 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.
  57. 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.
    View in: PubMed
  58. 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.
    View in: PubMed
  59. 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.
  60. Rehm HL. Translating research discoveries into clinical tests. Semin Nephrol. 2010 Jul; 30(4):426-30. PMID: 20807615.
    View in: PubMed
  61. 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.
    View in: PubMed
  62. 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.
  63. 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.
    View in: PubMed
  64. 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.
    View in: PubMed
  65. Rehm HL. A genetic approach to the child with sensorineural hearing loss. Semin Perinatol. 2005 Jun; 29(3):173-81. PMID: 16114580.
    View in: PubMed
  66. 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.
    View in: PubMed
  67. 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 9; 432(7018):723-30. PMID: 15483558.
    View in: PubMed
  68. Rehm HL. Genetics and the genome project. Ear Hear. 2003 Aug; 24(4):270-4. PMID: 12923418.
    View in: PubMed
  69. Pfister MH, Rehm HL. Glossary for hereditary hearing impairment. Ear Hear. 2003 Aug; 24(4):260-5. PMID: 12923416.
    View in: PubMed
  70. 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.
    View in: PubMed
  71. 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 1; 22(11):4286-92. PMID: 12040033.
    View in: PubMed
  72. 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.
    View in: PubMed
  73. 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.
    View in: PubMed
  74. 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.
    View in: PubMed
  75. 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.
  76. 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.
    View in: PubMed
  77. 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.
    View in: PubMed
  78. 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.
    View in: PubMed
  79. 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.
  80. 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.
  81. Brown KK, Rehm HL. Molecular diagnosis of hearing loss. Curr Protoc Hum Genet. 2012 Jan; Chapter 9:Unit 9.16. PMID: 22241658.
    View in: PubMed
  82. 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.
  83. 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.
    View in: PubMed
  84. 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.
    View in: PubMed
  85. 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.
  86. 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; PMCID: PMC3082613.
  87. 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.
    View in: PubMed
  88. Rehm HL. Molecular diagnosis of hearing loss. Curr Protoc Hum Genet. 2004 Nov; Chapter 9:Unit9.16. PMID: 18428366.
    View in: PubMed
  89. 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.
  90. 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.
  91. 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.
  92. 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 1; 358(18):1899-908. PMID: 18403758; PMCID: PMC2752150.
  93. 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.
  94. 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.
  95. 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.
  96. 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.
  97. 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.
  98. 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 7; 91(3):513-9. PMID: 22958901; PMCID: PMC3511985.
  99. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4; 372(23):2235-42. PMID: 26014595; PMCID: PMC4474187 [Available on 12/04/15].
  100. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 Nov; 18(11):1075-1084. PMID: 27171546.
    View in: PubMed
  101. 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 Dec; 37(10):1583-1588. PMID: 27631835.
    View in: PubMed
  102. 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 Nov 9; 8(364):364ra151. PMID: 27831900.
    View in: PubMed
  103. 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. 2016 Nov 03. PMID: 27811861.
    View in: PubMed
  104. 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. 2016 Jul 21. PMID: 27441996.
    View in: PubMed
  105. Kirkpatrick BE, Riggs ER, Azzariti DR, Miller VR, Ledbetter DH, Miller DT, Rehm H, Martin CL, Faucett WA. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum Mutat. 2015 Oct; 36(10):974-8. PMID: 26178529; PMCID: PMC4575269 [Available on 10/01/16].
  106. 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.
    View in: PubMed
Local representatives can answer questions about the Profiles website or help with editing a profile or issues with profile data. For assistance with this profile: HMS/HSDM faculty should contact feedbackcatalyst.harvard.edu. For demographic and contact information changes only, HMS/HSDM faculty should contact Human Resources at human_resourceshms.harvard.edu.
Rehm's Networks
Click the "See All" links for more information and interactive visualizations!
Concepts Expand Description
_
Co-Authors Expand Description
_
Similar People Expand Description
_
Same Department Expand Description
Physical Neighbors Expand Description
_