270 related articles for article (PubMed ID: 28916491)
1. Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Adam S; Friedman JM
J Clin Epidemiol; 2017 Dec; 92():7-10. PubMed ID: 28916491
[TBL] [Abstract][Full Text] [Related]
2. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
van den Veyver IB; Eng CM
Cold Spring Harb Perspect Med; 2015 Aug; 5(10):. PubMed ID: 26253094
[TBL] [Abstract][Full Text] [Related]
3. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM; du Souich C; Lehman A; Guella I; Evans DM; Candido T; Tooman L; Armstrong L; Clarke L; Gibson W; Gill H; Lavoie PM; Lewis S; McKinnon ML; Nikkel SM; Patel M; Solimano A; Synnes A; Ting J; van Allen M; Christilaw J; Farrer MJ; Friedman JM; Osiovich H
Eur J Pediatr; 2019 Aug; 178(8):1207-1218. PubMed ID: 31172278
[TBL] [Abstract][Full Text] [Related]
4. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
[TBL] [Abstract][Full Text] [Related]
5. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
Smith LD; Willig LK; Kingsmore SF
Cold Spring Harb Perspect Med; 2015 Dec; 6(2):a023168. PubMed ID: 26684335
[TBL] [Abstract][Full Text] [Related]
6. Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genome-wide significance testing of variation from single case exomes.
Wilfert AB; Chao KR; Kaushal M; Jain S; Zöllner S; Adams DR; Conrad DF
Nat Genet; 2016 Dec; 48(12):1455-1461. PubMed ID: 27776118
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing.
Mattick JS; Dinger M; Schonrock N; Cowley M
Med J Aust; 2018 Aug; 209(5):197-199. PubMed ID: 29621958
[No Abstract] [Full Text] [Related]
11. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.
Rabbani B; Mahdieh N; Hosomichi K; Nakaoka H; Inoue I
J Hum Genet; 2012 Oct; 57(10):621-32. PubMed ID: 22832387
[TBL] [Abstract][Full Text] [Related]
12. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Fogel BL; Lee H; Strom SP; Deignan JL; Nelson SF
Ann N Y Acad Sci; 2016 Feb; 1366(1):49-60. PubMed ID: 26250888
[TBL] [Abstract][Full Text] [Related]
13. Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review.
Elfatih A; Mohammed I; Abdelrahman D; Mifsud B
Physiol Genomics; 2021 Sep; 53(9):373-384. PubMed ID: 34250816
[TBL] [Abstract][Full Text] [Related]
14. Exome sequencing: the expert view.
Biesecker LG; Shianna KV; Mullikin JC
Genome Biol; 2011 Sep; 12(9):128. PubMed ID: 21920051
[TBL] [Abstract][Full Text] [Related]
15. ACMG Releases Guidelines for Exome and Genome Sequencing for Pediatric Patients.
Am J Med Genet A; 2021 Nov; 185(11):3185-3186. PubMed ID: 34655171
[No Abstract] [Full Text] [Related]
16. Whole Exome Sequencing: Applications in Prenatal Genetics.
Jelin AC; Vora N
Obstet Gynecol Clin North Am; 2018 Mar; 45(1):69-81. PubMed ID: 29428287
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen TEJ; Sallevelt SCEH; Hellebrekers DMEI; de Koning B; Hendrickx ATM; van den Bosch BJC; Kamps R; Schoonderwoerd K; Szklarczyk R; Mulder-Den Hartog ENM; de Coo IFM; Smeets HJM
J Pediatr; 2017 Mar; 182():371-374.e2. PubMed ID: 28081892
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing greatly expedites the progressive research of Mendelian diseases.
Zhang X
Front Med; 2014 Mar; 8(1):42-57. PubMed ID: 24384736
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]