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Items: 1 to 20 of 192

1.

How many rare diseases are there?

Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxon C, Bocci G, Joachimiak MP, Köhler S, Robinson PN, Mungall C, Oprea TI.

Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. No abstract available.

PMID:
32020066
2.

A brief history of human disease genetics.

Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI.

Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Review.

PMID:
31915397
3.

New Year's resolution: one meeting-free week a quarter.

Rehm H.

Nature. 2020 Jan;577(7789):147. doi: 10.1038/d41586-019-03953-y. No abstract available.

PMID:
31911696
4.

Keeping up with the genomes: scaling genomic variant interpretation.

Rehm HL, Fowler DM.

Genome Med. 2019 Dec 31;12(1):5. doi: 10.1186/s13073-019-0700-4. No abstract available.

5.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group.

Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.

6.

The case for implementing sustainable routine, population-level genomic reanalysis.

Lu CY, Hendricks-Sturrup RM, Mazor KM, McGuire AL, Green RC, Rehm HL.

Genet Med. 2019 Dec 12. doi: 10.1038/s41436-019-0719-3. [Epub ahead of print] No abstract available.

PMID:
31831882
7.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance, Amor DJ.

Eur J Hum Genet. 2019 Dec 12. doi: 10.1038/s41431-019-0553-8. [Epub ahead of print]

PMID:
31827275
8.

Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.

Harrison SM, Rehm HL.

Genome Med. 2019 Nov 21;11(1):72. doi: 10.1186/s13073-019-0688-9.

9.

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F, Hermle T.

J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. doi: 10.1681/ASN.2019040414. Epub 2019 Nov 15.

PMID:
31732614
10.

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S.

J Am Coll Cardiol. 2019 Nov 26;74(21):2623-2634. doi: 10.1016/j.jacc.2019.08.1060. Epub 2019 Nov 11.

PMID:
31727422
11.

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
12.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium.

Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22.

PMID:
31447099
13.

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
14.

The "All of Us" Research Program.

All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E.

N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937.

PMID:
31412182
15.

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.

16.

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
17.

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
18.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.

Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR.

Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6.

PMID:
31056551
19.

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.

20.

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

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