175 related articles for article (PubMed ID: 37327085)
21. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Johnson SR; Leo PJ; McInerney-Leo AM; Anderson LK; Marshall M; McGown I; Newell F; Brown MA; Conwell LS; Harris M; Duncan EL
Pediatr Diabetes; 2018 Jun; 19(4):656-662. PubMed ID: 29417725
[TBL] [Abstract][Full Text] [Related]
22. WEScover: selection between clinical whole exome sequencing and gene panel testing.
Lee IH; Lin Y; Alvarez WJ; Hernandez-Ferrer C; Mandl KD; Kong SW
BMC Bioinformatics; 2021 May; 22(1):259. PubMed ID: 34016036
[TBL] [Abstract][Full Text] [Related]
23. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK; Tan W; Daga A; Schapiro D; Lawson JA; Shril S; Lovric S; Ashraf S; Rao J; Hermle T; Jobst-Schwan T; Widmeier E; Majmundar AJ; Schneider R; Gee HY; Schmidt JM; Vivante A; van der Ven AT; Ityel H; Chen J; Sadowski CE; Kohl S; Pabst WL; Nakayama M; Somers MJG; Rodig NM; Daouk G; Baum M; Stein DR; Ferguson MA; Traum AZ; Soliman NA; Kari JA; El Desoky S; Fathy H; Zenker M; Bakkaloglu SA; Müller D; Noyan A; Ozaltin F; Cadnapaphornchai MA; Hashmi S; Hopcian J; Kopp JB; Benador N; Bockenhauer D; Bogdanovic R; Stajić N; Chernin G; Ettenger R; Fehrenbach H; Kemper M; Munarriz RL; Podracka L; Büscher R; Serdaroglu E; Tasic V; Mane S; Lifton RP; Braun DA; Hildebrandt F
Clin J Am Soc Nephrol; 2018 Jan; 13(1):53-62. PubMed ID: 29127259
[TBL] [Abstract][Full Text] [Related]
24. Mutations in glucokinase and other genes detected in neonatal and type 1B diabetes patient using whole exome sequencing may lead to disease-causing changes in protein activity.
Lin DC; Huang CY; Ting WH; Lo FS; Lin CL; Yang HW; Chang TY; Lin CH; Tzeng YW; Yang WS; Juang YL; Lee YJ
Biochim Biophys Acta Mol Basis Dis; 2019 Feb; 1865(2):428-433. PubMed ID: 30465894
[TBL] [Abstract][Full Text] [Related]
25. Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon; 2021 Sep; 7(9):e07903. PubMed ID: 34584998
[TBL] [Abstract][Full Text] [Related]
26. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A; Ityel H; Pode-Shakked B; Chen J; Shril S; van der Ven AT; Mann N; Schmidt JM; Segel R; Aran A; Zeharia A; Staretz-Chacham O; Bar-Yosef O; Raas-Rothschild A; Landau YE; Lifton RP; Anikster Y; Hildebrandt F
Pediatr Nephrol; 2017 Dec; 32(12):2273-2282. PubMed ID: 28779239
[TBL] [Abstract][Full Text] [Related]
27. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A; Durand E; Sand O; De Graeve F; Gallina S; Busiah K; Lobbens S; Simon A; Bellanné-Chantelot C; Létourneau L; Scharfmann R; Delplanque J; Sladek R; Polak M; Vaxillaire M; Froguel P
PLoS One; 2010 Oct; 5(10):e13630. PubMed ID: 21049026
[TBL] [Abstract][Full Text] [Related]
28. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
[TBL] [Abstract][Full Text] [Related]
29. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT; Connaughton DM; Ityel H; Mann N; Nakayama M; Chen J; Vivante A; Hwang DY; Schulz J; Braun DA; Schmidt JM; Schapiro D; Schneider R; Warejko JK; Daga A; Majmundar AJ; Tan W; Jobst-Schwan T; Hermle T; Widmeier E; Ashraf S; Amar A; Hoogstraaten CA; Hugo H; Kitzler TM; Kause F; Kolvenbach CM; Dai R; Spaneas L; Amann K; Stein DR; Baum MA; Somers MJG; Rodig NM; Ferguson MA; Traum AZ; Daouk GH; Bogdanović R; Stajić N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Al-Saffar M; Awad HS; Eid LA; Selvin A; Senguttuvan P; Sanna-Cherchi S; Rehm HL; MacArthur DG; Lek M; Laricchia KM; Wilson MW; Mane SM; Lifton RP; Lee RS; Bauer SB; Lu W; Reutter HM; Tasic V; Shril S; Hildebrandt F
J Am Soc Nephrol; 2018 Sep; 29(9):2348-2361. PubMed ID: 30143558
[TBL] [Abstract][Full Text] [Related]
30. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D; Schouten MI; Stunnenberg BC; Kusters B; Saris CGJ; Erasmus CE; van Engelen BG; Bulk S; Verschuuren-Bemelmans CC; Gerkes EH; de Geus C; van der Zwaag PA; Chan S; Chung B; Barge-Schaapveld DQCM; Kriek M; Sznajer Y; van Spaendonck-Zwarts K; van der Kooi AJ; Krause A; Schönewolf-Greulich B; de Die-Smulders C; Sallevelt SCEH; Krapels IPC; Rasmussen M; Maystadt I; Kievit AJA; Witting N; Pennings M; Meijer R; Gillissen C; Kamsteeg EJ; Voermans NC
J Neuromuscul Dis; 2019; 6(2):241-258. PubMed ID: 31127727
[TBL] [Abstract][Full Text] [Related]
31. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J; McMullan DJ; Eberhardt RY; Rinck G; Hamilton SJ; Quinlan-Jones E; Prigmore E; Keelagher R; Best SK; Carey GK; Mellis R; Robart S; Berry IR; Chandler KE; Cilliers D; Cresswell L; Edwards SL; Gardiner C; Henderson A; Holden ST; Homfray T; Lester T; Lewis RA; Newbury-Ecob R; Prescott K; Quarrell OW; Ramsden SC; Roberts E; Tapon D; Tooley MJ; Vasudevan PC; Weber AP; Wellesley DG; Westwood P; White H; Parker M; Williams D; Jenkins L; Scott RH; Kilby MD; Chitty LS; Hurles ME; Maher ER;
Lancet; 2019 Feb; 393(10173):747-757. PubMed ID: 30712880
[TBL] [Abstract][Full Text] [Related]
32. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM; Jiang YH; Schoch K; Spillmann RC; Walley N; Stong N; Rapisardo Horn S; Sullivan JA; McConkie-Rosell A; Kansagra S; Smith EC; El-Dairi M; Bellet J; Keels MA; Jasien J; Kranz PG; Noel R; Nagaraj SK; Lark RK; Wechsler DSG; Del Gaudio D; Leung ML; Hendon LG; Parker CC; Jones KL; ; Goldstein DB; Shashi V
Genet Med; 2018 Apr; 20(4):464-469. PubMed ID: 28914269
[TBL] [Abstract][Full Text] [Related]
33. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Z; Tan TY; Chong B; Brett GR; Yap P; Walsh M; Yeung A; Peters H; Mordaunt D; Cowie S; Amor DJ; Savarirayan R; McGillivray G; Downie L; Ekert PG; Theda C; James PA; Yaplito-Lee J; Ryan MM; Leventer RJ; Creed E; Macciocca I; Bell KM; Oshlack A; Sadedin S; Georgeson P; Anderson C; Thorne N; Melbourne Genomics Health Alliance ; Gaff C; White SM
Genet Med; 2016 Nov; 18(11):1090-1096. PubMed ID: 26938784
[TBL] [Abstract][Full Text] [Related]
34. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T
Eur J Hum Genet; 2022 Oct; 30(10):1121-1131. PubMed ID: 35970915
[TBL] [Abstract][Full Text] [Related]
35. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
Al Alawi I; Al Riyami M; Barroso-Gil M; Powell L; Olinger E; Al Salmi I; Sayer JA
F1000Res; 2021; 10():207. PubMed ID: 34354814
[No Abstract] [Full Text] [Related]
36. Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E; Pezzani L; Apuril E; Pezzoli L; Marchetti D; Bellini M; Lucca C; Meossi C; Massimello M; Mariani M; Scatigno A; Cattaneo E; Colombo L; Maitz S; Cereda A; Milani D; Spaccini L; Bedeschi MF; Selicorni A; Iascone M
Mol Genet Genomic Med; 2024 Jan; 12(1):e2316. PubMed ID: 38041506
[TBL] [Abstract][Full Text] [Related]
37. Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN; Marinakis NM; Veltra D; Svingou M; Kekou K; Mitrakos A; Tzetis M; Kosma K; Makrythanasis P; Traeger-Synodinos J; Sofocleous C
Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510394
[TBL] [Abstract][Full Text] [Related]
38. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C; Zhou W; Zhang L; Fu L; Shi W; Qing Y; Lu F; Tang J; Gao X; Zhang A; Jia Z; Zhang Y; Zhao X; Zheng B
BMC Genomics; 2023 Jul; 24(1):422. PubMed ID: 37501076
[TBL] [Abstract][Full Text] [Related]
39. Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
Norton ME; Ziffle JV; Lianoglou BR; Hodoglugil U; Devine WP; Sparks TN
Am J Obstet Gynecol; 2022 Jan; 226(1):128.e1-128.e11. PubMed ID: 34331894
[TBL] [Abstract][Full Text] [Related]
40. [UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen L; Orenstein N; Weisz-Hubshman M; Bazak L; Davidov B; Reinstein E; Tzur S; Behar D; Smirin-Yosef P; Salmon-Divon M; Gross A; Shohat M; Basel-Vanagaite L
Harefuah; 2017 Apr; 156(4):212-216. PubMed ID: 28551919
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
