422 related articles for article (PubMed ID: 30945278)
21. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ; Rexach JE; Lee H; Petty LE; Perlman S; Valera JM; Deignan JL; Mao Y; Aker M; Posey JE; Jhangiani SN; Coban-Akdemir ZH; Boerwinkle E; Muzny D; Nelson AB; Hassin-Baer S; Poke G; Neas K; Geschwind MD; Grody WW; Gibbs R; Geschwind DH; Lupski JR; Below JE; Nelson SF; Fogel BL
Hum Mutat; 2020 Feb; 41(2):487-501. PubMed ID: 31692161
[TBL] [Abstract][Full Text] [Related]
22. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
[TBL] [Abstract][Full Text] [Related]
23. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
[TBL] [Abstract][Full Text] [Related]
24. Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Marchuk DS; Crooks K; Strande N; Kaiser-Rogers K; Milko LV; Brandt A; Arreola A; Tilley CR; Bizon C; Vora NL; Wilhelmsen KC; Evans JP; Berg JS
PLoS One; 2018; 13(12):e0209185. PubMed ID: 30557390
[TBL] [Abstract][Full Text] [Related]
25. Validation of copy number variation analysis for next-generation sequencing diagnostics.
Ellingford JM; Campbell C; Barton S; Bhaskar S; Gupta S; Taylor RL; Sergouniotis PI; Horn B; Lamb JA; Michaelides M; Webster AR; Newman WG; Panda B; Ramsden SC; Black GC
Eur J Hum Genet; 2017 Jun; 25(6):719-724. PubMed ID: 28378820
[TBL] [Abstract][Full Text] [Related]
26. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
Zhai Y; Zhang Z; Shi P; Martin DM; Kong X
Hum Mutat; 2021 Aug; 42(8):990-1004. PubMed ID: 34015165
[TBL] [Abstract][Full Text] [Related]
27. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech M; Boesch S; Škorvánek M; Necpál J; Švantnerová J; Wagner M; Dincer Y; Sadr-Nabavi A; Serranová T; Rektorová I; Havránková P; Ganai S; Mosejová A; Příhodová I; Šarláková J; Kulcsarová K; Ulmanová O; Bechyně K; Ostrozovičová M; Haň V; Ventosa JR; Shariati M; Shoeibi A; Weber S; Mollenhauer B; Trenkwalder C; Berutti R; Strom TM; Ceballos-Baumann A; Mall V; Haslinger B; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2021 Mar; 84():129-134. PubMed ID: 33611074
[TBL] [Abstract][Full Text] [Related]
28. Evaluation of copy number variant detection from panel-based next-generation sequencing data.
Yao R; Yu T; Qing Y; Wang J; Shen Y
Mol Genet Genomic Med; 2019 Jan; 7(1):e00513. PubMed ID: 30565893
[TBL] [Abstract][Full Text] [Related]
29. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Costain G; Cordeiro D; Matviychuk D; Mercimek-Andrews S
Neuroscience; 2019 Oct; 418():291-310. PubMed ID: 31487502
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children.
Aaltio J; Hyttinen V; Kortelainen M; Frederix GWJ; Lönnqvist T; Suomalainen A; Isohanni P
Eur J Paediatr Neurol; 2022 Jan; 36():30-36. PubMed ID: 34852981
[TBL] [Abstract][Full Text] [Related]
32. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C; Guissart C; Hubsch C; Renaud M; Villemin JP; Larrieu L; Charles P; Ayrignac X; Sacconi S; Collignon P; Cuntz-Shadfar D; Perrin L; Benarrosh A; Degardin A; Lagha-Boukbiza O; Mutez E; Carlander B; Morales RJ; Gonzalez V; Carra-Dalliere C; Azakri S; Mignard C; Ollagnon E; Pageot N; Chretien D; Geny C; Azulay JP; Tranchant C; Claustres M; Labauge P; Anheim M; Goizet C; Calvas P; Koenig M
Hum Mutat; 2016 Dec; 37(12):1340-1353. PubMed ID: 27528516
[TBL] [Abstract][Full Text] [Related]
33. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Sreenivasan R; Bell K; van den Bergen J; Robevska G; Belluoccio D; Dahiya R; Leong GM; Dulon J; Touraine P; Tucker EJ; Ayers K; Sinclair A
Mol Cell Endocrinol; 2022 Apr; 546():111570. PubMed ID: 35051551
[TBL] [Abstract][Full Text] [Related]
34. Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Cai Y; Patterson KE; Reinier F; Keesecker SE; Blue E; Bamshad M; Haddad J
Birth Defects Res; 2017 Oct; 109(16):1257-1267. PubMed ID: 28748635
[TBL] [Abstract][Full Text] [Related]
35. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Quenez O; Cassinari K; Coutant S; Lecoquierre F; Le Guennec K; Rousseau S; Richard AC; Vasseur S; Bouvignies E; Bou J; Lienard G; Manase S; Fourneaux S; Drouot N; Nguyen-Viet V; Vezain M; Chambon P; Joly-Helas G; Le Meur N; Castelain M; Boland A; Deleuze JF; ; Tournier I; Charbonnier F; Kasper E; Bougeard G; Frebourg T; Saugier-Veber P; Baert-Desurmont S; Campion D; Rovelet-Lecrux A; Nicolas G
Eur J Hum Genet; 2021 Jan; 29(1):99-109. PubMed ID: 32591635
[TBL] [Abstract][Full Text] [Related]
36. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R; Paul J; Kennemer M; Lincoln SE; Olivares E; Nussbaum RL; Aradhya S
Genet Med; 2019 Jan; 21(1):114-123. PubMed ID: 29895855
[TBL] [Abstract][Full Text] [Related]
37. Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH; Kim B; Lee JS; Kim HD; Choi JR; Lee ST; Kang HC
Pediatr Neurol; 2019 Oct; 99():47-54. PubMed ID: 30952489
[TBL] [Abstract][Full Text] [Related]
38. Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
McInerney-Leo AM; Duncan EL
Front Endocrinol (Lausanne); 2020; 11():628946. PubMed ID: 33679611
[TBL] [Abstract][Full Text] [Related]
39. Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels.
Klein CJ; Foroud TM
Mayo Clin Proc; 2017 Feb; 92(2):292-305. PubMed ID: 28160876
[TBL] [Abstract][Full Text] [Related]
40. Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
Nazeha N; Koh AL; Kam S; Lim JY; Goh DLM; Jamuar SS; Graves N
Am J Med Genet A; 2022 Dec; 188(12):3482-3491. PubMed ID: 36156406
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]