162 related articles for article (PubMed ID: 28640240)
1. Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M; Vallespín E; Del Pozo Á; Ibañez K; Silla JC; Galán E; Gordo G; Martínez-Glez V; Alba-Valdivia LI; Heath KE; García-Miñaúr S; Lapunzina P; Santos-Simarro F
Genet Med; 2017 Nov; 19(11):1285-1286. PubMed ID: 28640240
[No Abstract] [Full Text] [Related]
2. Reanalysis of Clinical Exome Sequencing Data.
Liu P; Meng L; Normand EA; Xia F; Song X; Ghazi A; Rosenfeld J; Magoulas PL; Braxton A; Ward P; Dai H; Yuan B; Bi W; Xiao R; Wang X; Chiang T; Vetrini F; He W; Cheng H; Dong J; Gijavanekar C; Benke PJ; Bernstein JA; Eble T; Eroglu Y; Erwin D; Escobar L; Gibson JB; Gripp K; Kleppe S; Koenig MK; Lewis AM; Natowicz M; Mancias P; Minor L; Scaglia F; Schaaf CP; Streff H; Vernon H; Uhles CL; Zackai EH; Wu N; Sutton VR; Beaudet AL; Muzny D; Gibbs RA; Posey JE; Lalani S; Shaw C; Eng CM; Lupski JR; Yang Y
N Engl J Med; 2019 Jun; 380(25):2478-2480. PubMed ID: 31216405
[No Abstract] [Full Text] [Related]
3. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
[No Abstract] [Full Text] [Related]
4. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF; Prigmore E; Rajan D; Handsaker J; McRae J; Kaplanis J; Fitzgerald TW; FitzPatrick DR; Firth HV; Hurles ME
Nat Commun; 2019 Jul; 10(1):2985. PubMed ID: 31278258
[TBL] [Abstract][Full Text] [Related]
5. High-Resolution and Noninvasive Fetal Exome Screening.
Brand H; Whelan CW; Duyzend M; Lemanski J; Salani M; Hao SP; Wong I; Valkanas E; Cusick C; Genetti C; Dobson L; Studwell C; Gianforcaro K; Wilkins-Haug L; Guseh S; Currall B; Gray K; Talkowski ME
N Engl J Med; 2023 Nov; 389(21):2014-2016. PubMed ID: 37991862
[No Abstract] [Full Text] [Related]
6. 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]
7. Unlocking Mendelian disease using exome sequencing.
Gilissen C; Hoischen A; Brunner HG; Veltman JA
Genome Biol; 2011 Sep; 12(9):228. PubMed ID: 21920049
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z
JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669
[TBL] [Abstract][Full Text] [Related]
10. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
Bhoj EJ; Rajabi F; Baker SW; Santani A; Tan WH
Eur J Med Genet; 2020 Jun; 63(6):103903. PubMed ID: 32169557
[TBL] [Abstract][Full Text] [Related]
11. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L; Pammi M; Saronwala A; Magoulas P; Ghazi AR; Vetrini F; Zhang J; He W; Dharmadhikari AV; Qu C; Ward P; Braxton A; Narayanan S; Ge X; Tokita MJ; Santiago-Sim T; Dai H; Chiang T; Smith H; Azamian MS; Robak L; Bostwick BL; Schaaf CP; Potocki L; Scaglia F; Bacino CA; Hanchard NA; Wangler MF; Scott D; Brown C; Hu J; Belmont JW; Burrage LC; Graham BH; Sutton VR; Craigen WJ; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Muzny DM; Miller MJ; Wang X; Leduc MS; Xiao R; Liu P; Shaw C; Walkiewicz M; Bi W; Xia F; Lee B; Eng CM; Yang Y; Lalani SR
JAMA Pediatr; 2017 Dec; 171(12):e173438. PubMed ID: 28973083
[TBL] [Abstract][Full Text] [Related]
12. Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Basel-Salmon L; Orenstein N; Markus-Bustani K; Ruhrman-Shahar N; Kilim Y; Magal N; Hubshman MW; Bazak L
Genet Med; 2019 Jun; 21(6):1443-1451. PubMed ID: 30377382
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Grandparental genotyping enhances exome variant interpretation.
Daum H; Mor-Shaked H; Ta-Shma A; Shaag A; Silverstein S; Shohat M; Elpeleg O; Meiner V; Harel T
Am J Med Genet A; 2020 Apr; 182(4):689-696. PubMed ID: 32027463
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
16. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Tan TY; Lunke S; Chong B; Phelan D; Fanjul-Fernandez M; Marum JE; Kumar VS; Stark Z; Yeung A; Brown NJ; Stutterd C; Delatycki MB; Sadedin S; Martyn M; Goranitis I; Thorne N; Gaff CL; White SM
Eur J Hum Genet; 2019 Dec; 27(12):1791-1799. PubMed ID: 31320747
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB; Hartley T; Xi Y; Dyment DA; Beaulieu CL; Bernier FP; Dupuis L; Horvath GA; Mendoza-Londono R; Prasad C; Richer J; Yang XR; Armour CM; Bareke E; Fernandez BA; McMillan HJ; Lamont RE; Majewski J; Parboosingh JS; Prasad AN; Rupar CA; Schwartzentruber J; Smith AC; Tétreault M; ; ; Innes AM; Boycott KM
Clin Genet; 2017 Sep; 92(3):281-289. PubMed ID: 28170084
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Advances in the Genetic Testing of Neuromuscular Diseases.
Shieh PB
Neurol Clin; 2020 Aug; 38(3):519-528. PubMed ID: 32703465
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
