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Items: 1 to 50 of 251

1.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.

PMID:
30311389
2.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

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; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
3.

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group.

Hum Mutat. 2018 Nov;39(11):1525-1530. doi: 10.1002/humu.23642.

PMID:
30311383
4.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

Dolman L, Page A, Babb L, Freimuth RR, Arachchi H, Bizon C, Brush M, Fiume M, Haendel M, Hansen DP, Milosavljevic A, Patel RY, Pawliczek P, Yates AD, Rehm HL.

Hum Mutat. 2018 Nov;39(11):1686-1689. doi: 10.1002/humu.23625.

PMID:
30311379
5.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group.

Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643.

PMID:
30311378
6.

ClinGen's GenomeConnect registry enables patient-centered data sharing.

Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL.

Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633.

PMID:
30311371
7.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

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.

Genet Med. 2018 Oct 5. doi: 10.1038/s41436-018-0308-x. [Epub ahead of print]

PMID:
30287922
8.

Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing.

Rehm H.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003467. doi: 10.1101/mcs.a003467. Print 2018 Oct. No abstract available.

9.

matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

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.

Hum Mutat. 2018 Sep 21. doi: 10.1002/humu.23655. [Epub ahead of print]

PMID:
30240502
10.

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.

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.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0265-4. [Epub ahead of print]

PMID:
30214068
11.

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).

Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.

PMID:
30192042
12.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.

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.

Genet Med. 2018 Sep 5. doi: 10.1038/s41436-018-0267-2. [Epub ahead of print]

PMID:
30181607
13.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

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, Bogdanović R, Stajić 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.

J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.

PMID:
30143558
14.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

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; members of the CSER Actionability and Return of Results Working Group.

Mol Genet Genomic Med. 2018 Aug 21. doi: 10.1002/mgg3.453. [Epub ahead of print]

15.

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

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.

J Mol Diagn. 2018 Aug 8. pii: S1525-1578(18)30099-0. doi: 10.1016/j.jmoldx.2018.06.005. [Epub ahead of print]

PMID:
30096381
16.

Registered access: authorizing data access.

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.

Eur J Hum Genet. 2018 Aug 2. doi: 10.1038/s41431-018-0219-y. [Epub ahead of print]

PMID:
30069064
17.

The BabySeq project: implementing genomic sequencing in newborns.

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; BabySeq Project Team, Green RC, Beggs AH.

BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

18.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

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.

J Am Soc Nephrol. 2018 Aug;29(8):2123-2138. doi: 10.1681/ASN.2017121312. Epub 2018 Jun 29.

PMID:
29959197
19.

Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.

Grant AR, Hemphill SE, Vincent LM, Rehm HL.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a002675. doi: 10.1101/mcs.a002675. Print 2018 Oct.

20.

Development of a consent resource for genomic data sharing in the clinical setting.

Riggs ER, Azzariti DR, Niehaus A, Goehringer SR, Ramos EM, Rodriguez LL, Knoppers B, Rehm HL, Martin CL; Clinical Genome Resource Education Working Group.

Genet Med. 2018 Jun 13. doi: 10.1038/s41436-018-0017-5. [Epub ahead of print]

PMID:
29899502
21.

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K.

Hum Mutat. 2018 Aug;39(8):1051-1060. doi: 10.1002/humu.23555. Epub 2018 Jun 21.

PMID:
29790234
22.

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.

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; MedSeq Project.

Lancet Haematol. 2018 Jun;5(6):e241-e251. doi: 10.1016/S2352-3026(18)30053-X. Epub 2018 May 17.

PMID:
29780001
23.

The Ancestral Pace of Variant Reclassification.

Plon SE, Rehm HL.

J Natl Cancer Inst. 2018 Oct 1;110(10):1133-1134. doi: 10.1093/jnci/djy075. No abstract available.

PMID:
29757403
24.

Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice.

Landry LG, Ali N, Williams DR, Rehm HL, Bonham VL.

Health Aff (Millwood). 2018 May;37(5):780-785. doi: 10.1377/hlthaff.2017.1595.

PMID:
29733732
25.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

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; BabySeq Project Team.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug.

26.

The Lifespan of Genetic Testing.

DeFilippis EM, Rehm H, Cirino AL, Lakdawala NK.

Am J Med. 2018 Sep;131(9):991-992. doi: 10.1016/j.amjmed.2018.03.035. Epub 2018 Apr 19. No abstract available.

PMID:
29680488
27.

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Austin-Tse CA, Mandelker DL, Oza AM, Mason-Suares H, Rehm HL, Amr SS.

Eur J Med Genet. 2018 Oct;61(10):621-626. doi: 10.1016/j.ejmg.2018.04.006. Epub 2018 Apr 12.

PMID:
29655801
28.

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

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.

BMJ Paediatr Open. 2017 Sep 14;1(1):e000119. doi: 10.1136/bmjpo-2017-000119. eCollection 2017.

29.

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.

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.

Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.35. [Epub ahead of print]

30.

Response to Biesecker and Harrison.

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.

Genet Med. 2018 Mar 15. doi: 10.1038/gim.2018.43. [Epub ahead of print] No abstract available.

PMID:
29543230
31.

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy.

Landry LG, Rehm HL.

JAMA Cardiol. 2018 Apr 1;3(4):341-345. doi: 10.1001/jamacardio.2017.5333.

PMID:
29490334
32.

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects.

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.

Clin Pharmacol Ther. 2018 May;103(5):778-786. doi: 10.1002/cpt.1048. Epub 2018 Mar 30.

PMID:
29460415
33.

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.

Azzariti DR, Riggs ER, Niehaus A, Rodriguez LL, Ramos EM, Kattman B, Landrum MJ, Martin CL, Rehm HL.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002345. doi: 10.1101/mcs.a002345. Print 2018 Feb.

34.

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.

Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN.

Clin Chem. 2018 Apr;64(4):705-714. doi: 10.1373/clinchem.2017.280685. Epub 2018 Jan 16.

PMID:
29339441
35.
36.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

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; NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium.

Genet Med. 2018 Aug;20(8):855-866. doi: 10.1038/gim.2017.192. Epub 2017 Nov 16.

PMID:
29144510
37.

Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.

Rehm HL.

Genet Med. 2018 Mar;20(3):378-379. doi: 10.1038/gim.2017.179. Epub 2017 Nov 2. No abstract available.

PMID:
29095813
38.

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS.

Genet Med. 2018 Apr;20(5):536-544. doi: 10.1038/gim.2017.143. Epub 2017 Oct 19.

39.

Matchmaker Exchange.

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 Consortium.

Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50.

PMID:
29044468
40.

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

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; MedSeq Project*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001768. doi: 10.1161/CIRCGENETICS.117.001768.

41.

Creating a data resource: what will it take to build a medical information commons?

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.

Genome Med. 2017 Sep 22;9(1):84. doi: 10.1186/s13073-017-0476-3.

42.

ClinVar Is a Critical Resource to Advance Variant Interpretation.

Rehm HL, Harrison SM, Martin CL.

Oncologist. 2017 Dec;22(12):1562. doi: 10.1634/theoncologist.2017-0246. Epub 2017 Aug 29. No abstract available.

43.

A new era in the interpretation of human genomic variation.

Rehm HL.

Genet Med. 2017 Oct;19(10):1092-1095. doi: 10.1038/gim.2017.90. Epub 2017 Jul 13. No abstract available.

PMID:
28703787
44.

"Matching" consent to purpose: The example of the Matchmaker Exchange.

Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M, Brudno M, Boycott KM, Philippakis AA, Rehm HL.

Hum Mutat. 2017 Oct;38(10):1281-1285. doi: 10.1002/humu.23278. Epub 2017 Jul 12.

45.

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

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; MedSeq Project.

Ann Intern Med. 2017 Jun 27. doi: 10.7326/M17-0188. [Epub ahead of print]

PMID:
28654958
46.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

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.

Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.

47.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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.

Genet Med. 2017 May;19(5):606. doi: 10.1038/gim.2017.18. No abstract available.

PMID:
28492529
48.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

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 Jr, 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.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

49.

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

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.

Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4.

50.

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Abou Tayoun AN, Spinner NB, Rehm HL, Green RC, Bianchi DW.

Prenat Diagn. 2018 Jan;38(1):26-32. doi: 10.1002/pd.5038. Epub 2017 Apr 17.

PMID:
28345240

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