313 related articles for article (PubMed ID: 29388948)
21. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D
Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ; Liu R; Sureshkumar S; Rose R; Jagannathan L; da Silva C; Coovadia A; Ramachander V; Chandrasekar S; Raja I; Sajnani M; Selvaraj SM; Narang B; Darvishi K; Bhayal AC; Katikala L; Guo F; Chen-Deutsch X; Balciuniene J; Ma Z; Nallamilli BRR; Bean L; Collins C; Hegde M
J Mol Diagn; 2024 Jun; 26(6):510-519. PubMed ID: 38582400
[TBL] [Abstract][Full Text] [Related]
24. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
[TBL] [Abstract][Full Text] [Related]
25. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C; Sarkar N; Lu J; Owen M; Schindler A; Calabresi PA; Sumner CJ; Roda RH; Chaudhry V; Lloyd TE; Crawford TO; Subramony SH; Oh SJ; Richardson P; Tanji K; Kwan JY; Fischbeck KH; Mankodi A
J Neurol Neurosurg Psychiatry; 2021 Nov; 92(11):1186-1196. PubMed ID: 34103343
[TBL] [Abstract][Full Text] [Related]
26. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E; Topf A; Barresi R; Hudson J; Powell H; Tellez J; Hicks D; Porter A; Bertoli M; Evangelista T; Marini-Betollo C; Magnússon Ó; Lek M; MacArthur D; Bushby K; Lochmüller H; Straub V
Orphanet J Rare Dis; 2017 Sep; 12(1):151. PubMed ID: 28877744
[TBL] [Abstract][Full Text] [Related]
27. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
[TBL] [Abstract][Full Text] [Related]
28. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N; Mohd H; Al-Mureikhi M; Ali R; Al-Mesaifri F; Mahmoud L; Shahbeck N; El-Akouri K; Almulla M; Al Sulaiman R; Musa S; Al-Marri AA; Richard G; Juusola J; Solomon BD; Alkuraya FS; Ben-Omran T
Am J Med Genet A; 2019 Jun; 179(6):927-935. PubMed ID: 30919572
[TBL] [Abstract][Full Text] [Related]
29. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP; Macias A; Piechota M; Korostyński M; Potulska-Chromik A; Redowicz MJ; Zekanowski C
Hum Genomics; 2018 Jul; 12(1):34. PubMed ID: 29970176
[TBL] [Abstract][Full Text] [Related]
30. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A; Thauvin-Robinet C; Lehalle D; Bruel AL; Masurel-Paulet A; Jean N; Nambot S; Willems M; Lambert L; El Chehadeh-Djebbar S; Schaefer E; Jaquette A; St-Onge J; Poe C; Jouan T; Chevarin M; Callier P; Mosca-Boidron AL; Laurent N; Lefebvre M; Huet F; Houcinat N; Moutton S; Philippe C; Tran-Mau-Them F; Vitobello A; Kuentz P; Duffourd Y; Rivière JB; Thevenon J; Faivre L
Eur J Med Genet; 2017 Nov; 60(11):595-604. PubMed ID: 28807864
[TBL] [Abstract][Full Text] [Related]
31. Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick AT; Rosenfeld JA; Yang Y; Tunuguntla H; Allen HD; Penny DJ; Kim JJ; Landstrom AP
Mol Genet Genomic Med; 2019 Jun; 7(6):e593. PubMed ID: 30985088
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK; Coban-Akdemir Z; Harel T; Rosenfeld JA; Gambin T; Stray-Pedersen A; Küry S; Mercier S; Lessel D; Denecke J; Wiszniewski W; Penney S; Liu P; Bi W; Lalani SR; Schaaf CP; Wangler MF; Bacino CA; Lewis RA; Potocki L; Graham BH; Belmont JW; Scaglia F; Orange JS; Jhangiani SN; Chiang T; Doddapaneni H; Hu J; Muzny DM; Xia F; Beaudet AL; Boerwinkle E; Eng CM; Plon SE; Sutton VR; Gibbs RA; Posey JE; Yang Y; Lupski JR
Genome Med; 2017 Mar; 9(1):26. PubMed ID: 28327206
[TBL] [Abstract][Full Text] [Related]
36. Practical considerations in the clinical application of whole-exome sequencing.
Shashi V; McConkie-Rosell A; Schoch K; Kasturi V; Rehder C; Jiang YH; Goldstein DB; McDonald MT
Clin Genet; 2016 Feb; 89(2):173-81. PubMed ID: 25678066
[TBL] [Abstract][Full Text] [Related]
37. Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC; Kulseth MA; Rypdal KB; Skodje T; Sheng Y; Retterstøl L
J Eur Acad Dermatol Venereol; 2018 Jun; 32(6):1022-1027. PubMed ID: 29444371
[TBL] [Abstract][Full Text] [Related]
38. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu X; Li N; Xu Y; Li G; Yu T; Yao RE; Fu L; Wang J; Yin L; Yin Y; Wang Y; Jin X; Wang X; Wang J; Shen Y
Genet Med; 2018 Sep; 20(9):1045-1053. PubMed ID: 29095814
[TBL] [Abstract][Full Text] [Related]
39. A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J; Shen L; Bootwalla M; Quindipan C; Tatarinova T; Maglinte DT; Buckley J; Raca G; Saitta SC; Biegel JA; Gai X
Cold Spring Harb Mol Case Stud; 2019 Apr; 5(2):. PubMed ID: 30755392
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
