289 related articles for article (PubMed ID: 33144682)
1. Impact of integrated translational research on clinical exome sequencing.
Klee EW; Cousin MA; Pinto E Vairo F; Morales-Rosado JA; Macke EL; Jenkinson WG; Ferrer A; Schultz-Rogers LE; Olson RJ; Oliver GR; Sigafoos AN; Schwab TL; Zimmermann MT; Urrutia RA; Kaiwar C; Gupta A; Blackburn PR; Boczek NJ; Prochnow CA; Lowy RJ; Mulvihill LA; McAllister TM; Aoudia SL; Kruisselbrink TM; Gunderson LB; Kemppainen JL; Fisher LJ; Tarnowski JM; Hager MM; Kroc SA; Bertsch NL; Agre KE; Jackson JL; Macklin-Mantia SK; Murphree MI; Rust LM; Summer Bolster JM; Beck SA; Atwal PS; Ellingson MS; Barnett SS; Rasmussen KJ; Lahner CA; Niu Z; Hasadsri L; Ferber MJ; Marcou CA; Clark KJ; Pichurin PN; Deyle DR; Morava-Kozicz E; Gavrilova RH; Dhamija R; Wierenga KJ; Lanpher BC; Babovic-Vuksanovic D; Farrugia G; Schimmenti LA; Stewart AK; Lazaridis KN
Genet Med; 2021 Mar; 23(3):498-507. PubMed ID: 33144682
[TBL] [Abstract][Full Text] [Related]
2. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM
Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261
[TBL] [Abstract][Full Text] [Related]
3. Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA;
Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976
[TBL] [Abstract][Full Text] [Related]
4. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S; Gutierrez Salazar M; Zakoor KR; Lázaro C; Gu J; Goltz J; Kleinman D; Noor A; Khalouei S; Mighton C; Reble E; Kodida R; Bombard Y; DiTroia S; Baxter S; Watkins N; Care M; Adler A; Horsburgh S; Morar O; Murphy J; Nevay DL; Szybowska M; Aronson M; Panchal S; Godoy R; Holter S; Randall Armel S; Semotiuk K; Elser C; Kim RH; Chitayat D; So J; Faghfoury H; Silver J; Morel CF; Lerner-Ellis J
J Med Genet; 2021 Apr; 58(4):275-283. PubMed ID: 32581083
[TBL] [Abstract][Full Text] [Related]
5. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow DB; Kohler JN; Bonner D; Reuter CM; Fernandez L; Grove ME; Fisk DG; ; Yang Y; Eng CM; Ward PA; Bick D; Worthey EA; Fisher PG; Ashley EA; Bernstein JA; Wheeler MT
J Genet Couns; 2019 Apr; 28(2):213-228. PubMed ID: 30964584
[TBL] [Abstract][Full Text] [Related]
6. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N; Hemelsoet D; Terryn W; Steyaert S; Van Coster R; Coucke PJ; Steyaert W; Callewaert B; Bogaert E; Verloo P; Vanlander AV; Debackere E; Ghijsels J; LeBlanc P; Verdin H; Naesens L; Haerynck F; Callens S; Dermaut B; Poppe B;
Orphanet J Rare Dis; 2022 May; 17(1):210. PubMed ID: 35606766
[TBL] [Abstract][Full Text] [Related]
7. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter CM; Kohler JN; Bonner D; Zastrow D; Fernandez L; Dries A; Marwaha S; Davidson J; Brokamp E; Herzog M; Hong J; Macnamara E; Rosenfeld JA; Schoch K; Spillmann R; ; Loscalzo J; Krier J; Stoler J; Sweetser D; Palmer CGS; Phillips JA; Shashi V; Adams DA; Yang Y; Ashley EA; Fisher PG; Mulvihill JJ; Bernstein JA; Wheeler MT
J Genet Couns; 2019 Dec; 28(6):1107-1118. PubMed ID: 31478310
[TBL] [Abstract][Full Text] [Related]
8. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
[TBL] [Abstract][Full Text] [Related]
9. What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
Murdock DR; Rosenfeld JA; Lee B
Annu Rev Med; 2022 Jan; 73():575-585. PubMed ID: 35084988
[TBL] [Abstract][Full Text] [Related]
10. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F; Kemppainen JL; Vitek CRR; Whalen DA; Kolbert KJ; Sikkink KJ; Kroc SA; Kruisselbrink T; Shupe GF; Knudson AK; Burke EM; Loftus EC; Bandel LA; Prochnow CA; Mulvihill LA; Thomas B; Gable DM; Graddy CB; Garzon GGM; Ekpoh IU; Porquera EMC; Fervenza FC; Hogan MC; El Ters M; Warrington KJ; Davis JM; Koster MJ; Orandi AB; Basiaga ML; Vella A; Kumar S; Creo AL; Lteif AN; Pittock ST; Tebben PJ; Abate EG; Joshi AY; Ristagno EH; Patnaik MS; Schimmenti LA; Dhamija R; Sabrowsky SM; Wierenga KJ; Keddis MT; Samadder NJJ; Presutti RJ; Robinson SI; Stephens MC; Roberts LR; Faubion WA; Driscoll SW; Wong-Kisiel LC; Selcen D; Flanagan EP; Ramanan VK; Jackson LM; Mauermann ML; Ortega VE; Anderson SA; Aoudia SL; Klee EW; McAllister TM; Lazaridis KN
J Transl Med; 2023 Jun; 21(1):410. PubMed ID: 37353797
[TBL] [Abstract][Full Text] [Related]
11. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney T; Gallacher L; Pais LS; Tan NB; Yeung A; Stark Z; Brown NJ; McGillivray G; Delatycki MB; de Silva MG; Downie L; Stutterd CA; Elliott J; Compton AG; Lovgren A; Oertel R; Francis D; Bell KM; Sadedin S; Lim SC; Helman G; Simons C; Macarthur DG; Thorburn DR; O'Donnell-Luria AH; Christodoulou J; White SM; Tan TY
J Med Genet; 2022 Aug; 59(8):748-758. PubMed ID: 34740920
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].
Linthorst GE; Hollak CEM
Ned Tijdschr Geneeskd; 2019 May; 163():. PubMed ID: 31120221
[TBL] [Abstract][Full Text] [Related]
14. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K; Esteves C; Bican A; Spillmann R; Cope H; McConkie-Rosell A; Walley N; Fernandez L; Kohler JN; Bonner D; Reuter C; Stong N; Mulvihill JJ; Novacic D; Wolfe L; Abdelbaki A; Toro C; Tifft C; Malicdan M; Gahl W; Liu P; Newman J; Goldstein DB; Hom J; Sampson J; Wheeler MT; ; Cogan J; Bernstein JA; Adams DR; McCray AT; Shashi V
Genet Med; 2021 Feb; 23(2):259-271. PubMed ID: 33093671
[TBL] [Abstract][Full Text] [Related]
15. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Ferrer A; Duffy P; Olson RJ; Meiners MA; Schultz-Rogers L; Macke EL; Safgren S; Morales-Rosado JA; Cousin MA; Oliver GR; Rider D; Williams M; Pichurin PN; Deyle DR; Morava E; Gavrilova RH; Dhamija R; Wierenga KJ; Lanpher BC; Babovic-Vuksanovic D; Kaiwar C; Vitek CR; McAllister TM; Wick MJ; Schimmenti LA; Lazaridis KN; Vairo FPE; Klee EW
Hum Genet; 2024 May; 143(5):649-666. PubMed ID: 38538918
[TBL] [Abstract][Full Text] [Related]
16. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM; van Ool JS; Verhoeven JS; van Mierlo P; Braakman HMH; Smeets EE; Nicolai J; Schoots J; Teunissen MWA; Rouhl RPW; Tan IY; Yntema HG; Brunner HG; Pfundt R; Stegmann AP; Kamsteeg EJ; Schelhaas HJ; Willemsen MH
Epilepsia; 2019 Jan; 60(1):155-164. PubMed ID: 30525188
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha S; Knowles JW; Ashley EA
Genome Med; 2022 Feb; 14(1):23. PubMed ID: 35220969
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H; Huang AY; Wang LK; Yoon AJ; Renteria G; Eskin A; Signer RH; Dorrani N; Nieves-Rodriguez S; Wan J; Douine ED; Woods JD; Dell'Angelica EC; Fogel BL; Martin MG; Butte MJ; Parker NH; Wang RT; Shieh PB; Wong DA; Gallant N; Singh KE; Tavyev Asher YJ; Sinsheimer JS; Krakow D; Loo SK; Allard P; Papp JC; ; Palmer CGS; Martinez-Agosto JA; Nelson SF
Genet Med; 2020 Mar; 22(3):490-499. PubMed ID: 31607746
[TBL] [Abstract][Full Text] [Related]
20. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Tran Mau-Them F; Moutton S; Racine C; Vitobello A; Bruel AL; Nambot S; Kushner SA; de Vrij FMS; Lehalle D; Jean-Marçais N; Lecoquierre F; Delanne J; Thevenon J; Poe C; Jouan T; Chevarin M; Geneviève D; Willems M; Coubes C; Houcinat N; Masurel-Paulet A; Mosca-Boidron AL; Tisserant E; Callier P; Sorlin A; Duffourd Y; Faivre L; Philippe C; Thauvin-Robinet C
Hum Genet; 2020 Nov; 139(11):1381-1390. PubMed ID: 32399599
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
