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Items: 1 to 50 of 169

1.

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.

Harrison SM, Biesecker LG, Rehm HL.

Curr Protoc Hum Genet. 2019 Sep;103(1):e93. doi: 10.1002/cphg.93.

PMID:
31479589
2.

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

Gordon AS, Rosenthal EA, Carrell DS, Amendola LM, Dorschner MO, Scrol A, Stanaway IB, DeVange S, Ralston JD, Zouk H, Rehm HL, Larson E, Crosslin DR, Leppig KA, Jarvik GP.

Am J Hum Genet. 2019 Sep 5;105(3):526-533. doi: 10.1016/j.ajhg.2019.07.012. Epub 2019 Aug 15.

PMID:
31422818
3.

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H; MedSeq Project, Green RC, Lebo M, Rehm HL.

Am J Hum Genet. 2019 Jul 3;105(1):177-188. doi: 10.1016/j.ajhg.2019.05.017. Epub 2019 Jun 27.

PMID:
31256874
4.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group.

Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.

PMID:
31160754
5.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0553-7.

PMID:
31114025
6.

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Bombard Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, Jamal L, James CA, Jarvik GP, McCormick JB, Nelson TN, Ormond KE, Rehm HL, Richer J, Souzeau E, Vassy JL, Wagner JK, Levy HP.

Am J Hum Genet. 2019 Apr 4;104(4):578-595. doi: 10.1016/j.ajhg.2019.02.025. Review.

7.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21. Erratum in: Genet Med. 2019 May 22;:.

PMID:
30894701
8.

Introduction of genomics into prenatal diagnostics.

Talkowski ME, Rehm HL.

Lancet. 2019 Feb 23;393(10173):719-721. doi: 10.1016/S0140-6736(19)30193-X. Epub 2019 Jan 31. No abstract available.

9.

Correction: 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, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1261-1262. doi: 10.1038/s41436-019-0440-2.

PMID:
30670880
10.

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.

Niehaus A, Azzariti DR, Harrison SM, DiStefano MT, Hemphill SE, Senol-Cosar O, Rehm HL.

Genet Med. 2019 Aug;21(8):1699-1701. doi: 10.1038/s41436-018-0432-7. Epub 2019 Jan 23. No abstract available.

PMID:
30670879
11.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Review.

PMID:
30655598
12.

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.

Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS.

J Mol Diagn. 2019 Mar;21(2):318-329. doi: 10.1016/j.jmoldx.2018.10.009. Epub 2019 Jan 3.

13.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team.

Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

14.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.

PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

15.

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

Biesecker LG, Nussbaum RL, Rehm HL.

JAMA. 2018 Nov 13;320(18):1929-1930. doi: 10.1001/jama.2018.14900. No abstract available.

PMID:
30326012
16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Erratum in: Genet Med. 2019 Jan 22;:.

23.

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 Dec;39(12):1827-1834. doi: 10.1002/humu.23655. Epub 2018 Oct 3.

PMID:
30240502
24.

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. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14.

PMID:
30214068
25.

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.

26.

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. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.

27.

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.

28.

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 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21.

29.

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 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8.

30.

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 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2.

31.

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.

32.

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.

33.

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.

34.

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. 2019 Jan;21(1):81-88. doi: 10.1038/s41436-018-0017-5. Epub 2018 Jun 13.

35.

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.

36.

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.

37.

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.

38.

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
39.

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.

40.

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
41.

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.

42.

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; MedSeq Project.

Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.

43.

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; ACMG/AMP Interpretation of Sequence Variants Work Group 2015.

Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. No abstract available.

PMID:
29543230
44.

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.

45.

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. Review.

46.

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.

47.

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.

48.
49.

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.

50.

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

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