130 related articles for article (PubMed ID: 38642551)
1. Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.
Forrest IS; Duffy Á; Park JK; Vy HMT; Pasquale LR; Nadkarni GN; Cho JH; Do R
Cell Rep Med; 2024 May; 5(5):101518. PubMed ID: 38642551
[TBL] [Abstract][Full Text] [Related]
2. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K; Buchanan AH; Schwartz MLB; Hallquist MLG; Williams JL; Rahm AK; Rocha H; Savatt JM; Evans AE; Butry LM; Lazzeri AL; Lindbuchler DM; Flansburg CN; Leeming R; Vogel VG; Lebo MS; Mason-Suares HM; Hoskinson DC; Abul-Husn NS; Dewey FE; Overton JD; Reid JG; Baras A; Willard HF; McCormick CZ; Krishnamurthy SB; Hartzel DN; Kost KA; Lavage DR; Sturm AC; Frisbie LR; Person TN; Metpally RP; Giovanni MA; Lowry LE; Leader JB; Ritchie MD; Carey DJ; Justice AE; Kirchner HL; Faucett WA; Williams MS; Ledbetter DH; Murray MF
JAMA Netw Open; 2018 Sep; 1(5):e182140. PubMed ID: 30646163
[TBL] [Abstract][Full Text] [Related]
3. The burden of pathogenic variants in clinically actionable genes in a founder population.
Lynch MT; Maloney KA; Pollin TI; Streeten EA; Xu H; ; Shuldiner AR; Van Hout CV; Gonzaga-Jauregui C; Mitchell BD
Am J Med Genet A; 2021 Nov; 185(11):3476-3484. PubMed ID: 34467620
[TBL] [Abstract][Full Text] [Related]
4. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lawrence L; Sincan M; Markello T; Adams DR; Gill F; Godfrey R; Golas G; Groden C; Landis D; Nehrebecky M; Park G; Soldatos A; Tifft C; Toro C; Wahl C; Wolfe L; Gahl WA; Boerkoel CF
Genet Med; 2014 Oct; 16(10):741-50. PubMed ID: 24784157
[TBL] [Abstract][Full Text] [Related]
5. A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Park J; Levin MG; Haggerty CM; Hartzel DN; Judy R; Kember RL; Reza N; ; Ritchie MD; Owens AT; Damrauer SM; Rader DJ
Genet Med; 2020 Jan; 22(1):102-111. PubMed ID: 31383942
[TBL] [Abstract][Full Text] [Related]
6. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Son JH; Xie G; Yuan C; Ena L; Li Z; Goldstein A; Huang L; Wang L; Shen F; Liu H; Mehl K; Groopman EE; Marasa M; Kiryluk K; Gharavi AG; Chung WK; Hripcsak G; Friedman C; Weng C; Wang K
Am J Hum Genet; 2018 Jul; 103(1):58-73. PubMed ID: 29961570
[TBL] [Abstract][Full Text] [Related]
7. Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML; Finnila CR; Bowling KM; Brothers KB; Neu MB; Amaral MD; Hiatt SM; East KM; Gray DE; Lawlor JMJ; Kelley WV; Lose EJ; Rich CA; Simmons S; Levy SE; Myers RM; Barsh GS; Bebin EM; Cooper GM
Genet Med; 2018 Dec; 20(12):1635-1643. PubMed ID: 29790872
[TBL] [Abstract][Full Text] [Related]
8. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ; Liu R; Sureshkumar S; Rose R; Jagannathan L; da Silva C; Coovadia A; Ramachander V; Chandrasekar S; Raja I; Sajnani M; Selvaraj SM; Narang B; Darvishi K; Bhayal AC; Katikala L; Guo F; Chen-Deutsch X; Balciuniene J; Ma Z; Nallamilli BRR; Bean L; Collins C; Hegde M
J Mol Diagn; 2024 Jun; 26(6):510-519. PubMed ID: 38582400
[TBL] [Abstract][Full Text] [Related]
9. Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
Ramchand J; Wallis M; Macciocca I; Lynch E; Farouque O; Martyn M; Phelan D; Chong B; Lockwood S; Weintraub R; Thompson T; Trainer A; Zentner D; Vohra J; Chetrit M; Hare DL; James P
J Am Heart Assoc; 2020 Jan; 9(2):e013346. PubMed ID: 31931689
[TBL] [Abstract][Full Text] [Related]
10. Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim JW; Kwee LC; Alenezi F; Sun AY; Baras A; Ajayi TA; Henao R; Holley CL; McGarrah RW; Daubert JP; Truby LK; Vemulapalli S; Wang A; Khouri MG; Shah SH
J Am Coll Cardiol; 2020 Aug; 76(7):797-808. PubMed ID: 32792077
[TBL] [Abstract][Full Text] [Related]
11. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.
Martin CL; Wain KE; Oetjens MT; Tolwinski K; Palen E; Hare-Harris A; Habegger L; Maxwell EK; Reid JG; Walsh LK; Myers SM; Ledbetter DH
JAMA Psychiatry; 2020 Dec; 77(12):1276-1285. PubMed ID: 32697297
[TBL] [Abstract][Full Text] [Related]
12. Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
Horiuchi Y; Matsubayashi H; Kiyozumi Y; Nishimura S; Higashigawa S; Kado N; Nagashima T; Mizuguchi M; Ohnami S; Arai M; Urakami K; Kusuhara M; Yamaguchi K
Hum Genet; 2021 Feb; 140(2):321-331. PubMed ID: 32710294
[TBL] [Abstract][Full Text] [Related]
13. High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S; Dagan-Rosenfeld O; Zhou W; Sailani MR; Limcaoco P; Colbert E; Avina M; Wheeler J; Craig C; Salins D; Röst HL; Dunn J; McLaughlin T; Steinmetz LM; Bernstein JA; Snyder MP
Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30487145
[TBL] [Abstract][Full Text] [Related]
14. Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH; Lemire G; Berger E; Zaki MS; Wissmann M; Win W; White SM; Weisburd B; Wieczorek D; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Syrbe S; Strehlow V; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Radtke M; Popp D; Polster T; Platzer K; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Opperman H; Okur V; Oja KT; O'Leary M; O'Heir E; Morel CF; Merkenschlager A; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Hentschel J; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gburek-Augustat J; Gazda HT; Ganesh VS; Ganapathi M; Gallacher L; Fu JM; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bönnemann CG; Beggs AH; Baxter SM; Bartolomaeus T; Agrawal PB; Talkowski M; Austin-Tse C; Abou Jamra R; Rehm HL; O'Donnell-Luria A
N Engl J Med; 2024 Jun; 390(21):1985-1997. PubMed ID: 38838312
[TBL] [Abstract][Full Text] [Related]
15. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A; Valero RA; Jimenez-Almazan J; Pardo PM; Fabiani M; Jiménez D; Simon C; Rodriguez JM
PLoS Genet; 2019 Oct; 15(10):e1008409. PubMed ID: 31589614
[TBL] [Abstract][Full Text] [Related]
16. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
[TBL] [Abstract][Full Text] [Related]
17. Exploring the clinical utility of exome sequencing/Mono, Duo, Trio in prenatal testing: a retrospective study in a tertiary care centre in South India.
Ilangovan H; Elangovan J; Danda S; Beck MM; Navaneethan P; Athiyarath R
J Perinat Med; 2024 Jun; 52(5):520-529. PubMed ID: 38709224
[TBL] [Abstract][Full Text] [Related]
18. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Bick D; Jones M; Taylor SL; Taft RJ; Belmont J
J Med Genet; 2019 Dec; 56(12):783-791. PubMed ID: 31023718
[TBL] [Abstract][Full Text] [Related]
19. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope H; Spillmann R; Rosenfeld JA; Brokamp E; Signer R; Schoch K; Kelley EG; Sullivan JA; Macnamara E; Lincoln S; Golden-Grant K; ; Orengo JP; Clark G; Burrage LC; Posey JE; Punetha J; Robertson A; Cogan J; Phillips JA; Martinez-Agosto J; Shashi V
Mol Genet Genomic Med; 2020 Oct; 8(10):e1397. PubMed ID: 32730690
[TBL] [Abstract][Full Text] [Related]
20. Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results.
Schwartz MLB; McDonald WS; Hallquist MLG; Hu Y; McCormick CZ; Walters NL; Tsun J; Zimmerman K; Decker A; Gray C; Malinowski J; Sturm AC; Buchanan AH
JAMA Netw Open; 2024 Mar; 7(3):e242388. PubMed ID: 38488794
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]