199 related articles for article (PubMed ID: 30645660)
21. [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]
22. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E; Muñoz-Barrera A; Jáspez D; Rubio-Rodríguez LA; Mendoza-Alvarez A; Rodriguez-Perez H; Jou J; Iñigo-Campos A; Corrales A; Ciuffreda L; Martinez-Bugallo F; Prieto-Morin C; García-Olivares V; González-Montelongo R; Lorenzo-Salazar JM; Marcelino-Rodriguez I; Flores C
Hum Mutat; 2022 Dec; 43(12):2010-2020. PubMed ID: 36054330
[TBL] [Abstract][Full Text] [Related]
25. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Jalkh N; Corbani S; Haidar Z; Hamdan N; Farah E; Abou Ghoch J; Ghosn R; Salem N; Fawaz A; Djambas Khayat C; Rajab M; Mourani C; Moukarzel A; Rassi S; Gerbaka B; Mansour H; Baassiri M; Dagher R; Breich D; Mégarbané A; Desvignes JP; Delague V; Mehawej C; Chouery E
BMC Med Genomics; 2019 Jan; 12(1):11. PubMed ID: 30665423
[TBL] [Abstract][Full Text] [Related]
26. Clinical whole exome sequencing in child neurology practice.
Srivastava S; Cohen JS; Vernon H; Barañano K; McClellan R; Jamal L; Naidu S; Fatemi A
Ann Neurol; 2014 Oct; 76(4):473-83. PubMed ID: 25131622
[TBL] [Abstract][Full Text] [Related]
27. Modern methods in diagnostics and research of molecular bases of rare diseases.
Kmoch S; Zeman J
Cas Lek Cesk; 2018; 157(3):133-136. PubMed ID: 30441942
[TBL] [Abstract][Full Text] [Related]
28. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH; Lee H; Lee J; Han H; Cho YK; Kim M; Choi Y; Choi J; Choi IH; Rhie S; Chae KY; Kim YM; Cheon CK; Kim SJ; Lee J; Kang E; Byeon JH; Yu HJ; Shin YL; Oh A; Kim WJ; Yum MS; Lee BH; Eun BL
Mol Med; 2022 Mar; 28(1):38. PubMed ID: 35346031
[TBL] [Abstract][Full Text] [Related]
29. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI; Rodríguez-Revenga L; Jodar M; Potrony M; Sanchez A; Badenas C; Oriola J; Villanueva-Cañas JL; Muñoz E; Valldeoriola F; Cámara A; Compta Y; Carreño M; Martí MJ; Sánchez-Valle R; Madrigal I
Genes (Basel); 2023 Mar; 14(4):. PubMed ID: 37107571
[TBL] [Abstract][Full Text] [Related]
30. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
[TBL] [Abstract][Full Text] [Related]
31. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A; Coutton C; Kherraf ZE; Karaouzène T; Le Tanno P; Sanati MH; Sabbaghian M; Almadani N; Sadighi Gilani MA; Hosseini SH; Bahrami S; Daneshipour A; Bini M; Arnoult C; Colombo R; Gourabi H; Ray PF
Hum Reprod; 2016 Dec; 31(12):2872-2880. PubMed ID: 27798045
[TBL] [Abstract][Full Text] [Related]
32. Whole-Exome Sequencing (WES) for Illumina Short Read Sequencers Using Solution-Based Capture.
Mahajan MC; McLellan AS
Methods Mol Biol; 2020; 2076():85-108. PubMed ID: 31586323
[TBL] [Abstract][Full Text] [Related]
33. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
Ordoñez-Labastida V; Montes-Almanza L; García-Martínez F; Zenteno JC
Rev Invest Clin; 2022; 74(4):219-226. PubMed ID: 36087940
[TBL] [Abstract][Full Text] [Related]
34. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Alfares A; Aloraini T; Subaie LA; Alissa A; Qudsi AA; Alahmad A; Mutairi FA; Alswaid A; Alothaim A; Eyaid W; Albalwi M; Alturki S; Alfadhel M
Genet Med; 2018 Nov; 20(11):1328-1333. PubMed ID: 29565419
[TBL] [Abstract][Full Text] [Related]
35. Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.
Li X; Nusbaum R; Smith-Hicks C; Jamal L; Dixon S; Mahida S
J Genet Couns; 2019 Apr; 28(2):304-312. PubMed ID: 30680845
[TBL] [Abstract][Full Text] [Related]
36. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S; Aggarwal V; Giordano JL; Stosic M; Wou K; Bier L; Spiegel E; Brennan K; Stong N; Jobanputra V; Ren Z; Zhu X; Mebane C; Nahum O; Wang Q; Kamalakaran S; Malone C; Anyane-Yeboa K; Miller R; Levy B; Goldstein DB; Wapner RJ
Lancet; 2019 Feb; 393(10173):758-767. PubMed ID: 30712878
[TBL] [Abstract][Full Text] [Related]
37. Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities.
Wang D; Bolleddula J; Coenen-Stass A; Grombacher T; Dong JQ; Scheuenpflug J; Locatelli G; Feng Z
Pharmacogenomics; 2024 Mar; 25(4):197-206. PubMed ID: 38511470
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
