180 related articles for article (PubMed ID: 25659636)
1. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Tacik P; Guthrie KJ; Strongosky AJ; Broderick DF; Riegert-Johnson DL; Tang S; El-Khechen D; Parker AS; Ross OA; Wszolek ZK
Mayo Clin Proc; 2015 Mar; 90(3):366-71. PubMed ID: 25659636
[TBL] [Abstract][Full Text] [Related]
2. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN; Schahl KA; Cousin MA; Babovic-Vuksanovic D; Riegert-Johnson DL; Gavrilova RH; McAllister TM; Lindor NM; Abraham RS; Ackerman MJ; Pichurin PN; Deyle DR; Gavrilov DK; Hand JL; Klee EW; Stephens MC; Wick MJ; Atkinson EJ; Linden DR; Ferber MJ; Wieben ED; Farrugia G;
Mayo Clin Proc; 2016 Mar; 91(3):297-307. PubMed ID: 26944241
[TBL] [Abstract][Full Text] [Related]
3. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Brownstein CA; Beggs AH; Rodan L; Shi J; Towne MC; Pelletier R; Cao S; Rosenberg PA; Urion DK; Picker J; Tan WH; Agrawal PB
Neurogenetics; 2016 Jan; 17(1):11-6. PubMed ID: 26395884
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
Netravathi M; Kumari R; Kapoor S; Dakle P; Dwivedi MK; Roy SD; Pandey P; Saini J; Ramakrishna A; Navalli D; Satishchandra P; Pal PK; Kumar A; Faruq M
BMC Med Genet; 2015 Feb; 16():5. PubMed ID: 25928698
[TBL] [Abstract][Full Text] [Related]
5. Whole-Exome Sequencing Implicates
Maksemous N; Smith RA; Sutherland HG; Sampaio H; Griffiths LR
Int J Mol Sci; 2018 Oct; 19(10):. PubMed ID: 30314295
[TBL] [Abstract][Full Text] [Related]
6. [Familial periodic ataxia with myokymia sensitive to acetazolamide: a family case].
Gómez-Gosálvez F; Smeyers P; Escrivá P; Clemente F; Mallada J; Mulas F; Palao F; Millet E
Rev Neurol; 1997 Dec; 25(148):1925-7. PubMed ID: 9528033
[TBL] [Abstract][Full Text] [Related]
7. Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.
Sun LY; Zhang YB; Jiang L; Wan N; Wu WF; Pan XD; Yu J; Zhang F; Wang LY
Sci Rep; 2015 Jun; 5():11380. PubMed ID: 26077743
[TBL] [Abstract][Full Text] [Related]
8. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J; Duffourd Y; Masurel-Paulet A; Lefebvre M; Feillet F; El Chehadeh-Djebbar S; St-Onge J; Steinmetz A; Huet F; Chouchane M; Darmency-Stamboul V; Callier P; Thauvin-Robinet C; Faivre L; Rivière JB
Clin Genet; 2016 Jun; 89(6):700-7. PubMed ID: 26757139
[TBL] [Abstract][Full Text] [Related]
9. Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H; Yuan H; Wang Q; Ye W; Yao R; Xu W; Liu Y
Mol Genet Genomic Med; 2020 Oct; 8(10):e1434. PubMed ID: 32705822
[TBL] [Abstract][Full Text] [Related]
10. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Hanchard NA; Murdock DR; Magoulas PL; Bainbridge M; Muzny D; Wu Y; Wang M; Lupski JR; Gibbs RA; Brown CW
Clin Genet; 2013 May; 83(5):457-461. PubMed ID: 22901280
[TBL] [Abstract][Full Text] [Related]
11. Episodic ataxia associated with a de novo SCN2A mutation.
Leach EL; van Karnebeek CD; Townsend KN; Tarailo-Graovac M; Hukin J; Gibson WT
Eur J Paediatr Neurol; 2016 Sep; 20(5):772-6. PubMed ID: 27328862
[TBL] [Abstract][Full Text] [Related]
12. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B; Bulman DE; Warman Chardon J; Chitayat D; Deladoëy J; Fernandez BA; Frosk P; Geraghty MT; Gerull B; Gibson W; Gow RM; Graham GE; Green JS; Heon E; Horvath G; Innes AM; Jabado N; Kim RH; Koenekoop RK; Khan A; Lehmann OJ; Mendoza-Londono R; Michaud JL; Nikkel SM; Penney LS; Polychronakos C; Richer J; Rouleau GA; Samuels ME; Siu VM; Suchowersky O; Tarnopolsky MA; Yoon G; Zahir FR; ; ; Majewski J; Boycott KM
Clin Genet; 2016 Mar; 89(3):275-84. PubMed ID: 26283276
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
Tetreault M; Bareke E; Nadaf J; Alirezaie N; Majewski J
Expert Rev Mol Diagn; 2015 Jun; 15(6):749-60. PubMed ID: 25959410
[TBL] [Abstract][Full Text] [Related]
14. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Lee H; Wang H; Jen JC; Sabatti C; Baloh RW; Nelson SF
Hum Mutat; 2004 Dec; 24(6):536. PubMed ID: 15532032
[TBL] [Abstract][Full Text] [Related]
17. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.
Rosell AM; Pena LD; Schoch K; Spillmann R; Sullivan J; Hooper SR; Jiang YH; Mathey-Andrews N; Goldstein DB; Shashi V
J Genet Couns; 2016 Oct; 25(5):1019-31. PubMed ID: 26868367
[TBL] [Abstract][Full Text] [Related]
18. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Tammimies K; Marshall CR; Walker S; Kaur G; Thiruvahindrapuram B; Lionel AC; Yuen RK; Uddin M; Roberts W; Weksberg R; Woodbury-Smith M; Zwaigenbaum L; Anagnostou E; Wang Z; Wei J; Howe JL; Gazzellone MJ; Lau L; Sung WW; Whitten K; Vardy C; Crosbie V; Tsang B; D'Abate L; Tong WW; Luscombe S; Doyle T; Carter MT; Szatmari P; Stuckless S; Merico D; Stavropoulos DJ; Scherer SW; Fernandez BA
JAMA; 2015 Sep; 314(9):895-903. PubMed ID: 26325558
[TBL] [Abstract][Full Text] [Related]
19. Familial episodic ataxia type II.
Mugundhan K; Thiruvarutchelvan K; Sivakumar S
J Assoc Physicians India; 2011 Oct; 59():668-70. PubMed ID: 22479753
[TBL] [Abstract][Full Text] [Related]
20. [Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
Tang S; Jia M; Chen C; Li H; Hu L; Luan Z; Xu X; Lyu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):403-407. PubMed ID: 29896742
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]