135 related articles for article (PubMed ID: 31912665)
1. Genome sequencing in persistently unsolved white matter disorders.
Helman G; Lajoie BR; Crawford J; Takanohashi A; Walkiewicz M; Dolzhenko E; Gross AM; Gainullin VG; Bent SJ; Jenkinson EM; Ferdinandusse S; Waterham HR; Dorboz I; Bertini E; Miyake N; Wolf NI; Abbink TEM; Kirwin SM; Tan CM; Hobson GM; Guo L; Ikegawa S; Pizzino A; Schmidt JL; Bernard G; Schiffmann R; van der Knaap MS; Simons C; Taft RJ; Vanderver A
Ann Clin Transl Neurol; 2020 Jan; 7(1):144-152. PubMed ID: 31912665
[TBL] [Abstract][Full Text] [Related]
2. Whole exome sequencing in patients with white matter abnormalities.
Vanderver A; Simons C; Helman G; Crawford J; Wolf NI; Bernard G; Pizzino A; Schmidt JL; Takanohashi A; Miller D; Khouzam A; Rajan V; Ramos E; Chowdhury S; Hambuch T; Ru K; Baillie GJ; Grimmond SM; Caldovic L; Devaney J; Bloom M; Evans SH; Murphy JLP; McNeill N; Fogel BL; ; Schiffmann R; van der Knaap MS; Taft RJ
Ann Neurol; 2016 Jun; 79(6):1031-1037. PubMed ID: 27159321
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS; Rodrigues Brandão de Paiva A; Zhang WJ; Bugiardini E; Freua F; Tavares Lucato L; Macedo-Souza LI; Lakshmanan R; Kinsella JA; Merwick A; Rossor AM; Bajaj N; Herron B; McMonagle P; Morrison PJ; Hughes D; Pittman A; Laurà M; Reilly MM; Warren JD; Mummery CJ; Schott JM; Adams M; Fox NC; Murphy E; Davagnanam I; Kok F; Chataway J; Houlden H
Brain; 2017 May; 140(5):1204-1211. PubMed ID: 28334938
[TBL] [Abstract][Full Text] [Related]
4. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Vanderver A; Bernard G; Helman G; Sherbini O; Boeck R; Cohn J; Collins A; Demarest S; Dobbins K; Emrick L; Fraser JL; Masser-Frye D; Hayward J; Karmarkar S; Keller S; Mirrop S; Mitchell W; Pathak S; Sherr E; van Haren K; Waters E; Wilson JL; Zhorne L; Schiffmann R; van der Knaap MS; Pizzino A; Dubbs H; Shults J; Simons C; Taft RJ;
Ann Neurol; 2020 Aug; 88(2):264-273. PubMed ID: 32342562
[TBL] [Abstract][Full Text] [Related]
5. Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Cohen L; Manín A; Medina N; Rodríguez-Quiroga S; González-Morón D; Rosales J; Amartino H; Specola N; Córdoba M; Kauffman M; Vega P
Ann Hum Genet; 2020 Jan; 84(1):11-28. PubMed ID: 31418856
[TBL] [Abstract][Full Text] [Related]
6. Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Liu M; Wang Y; Shi C; Yuan Y; Li L; Zhang X; Xu Y; Yang J
Ann Clin Transl Neurol; 2023 Jul; 10(7):1119-1135. PubMed ID: 37237429
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
Khalifa M; Naffaa L
Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
[TBL] [Abstract][Full Text] [Related]
8. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M; Tavares E; Deshmukh S; Audo I; Green-Sanderson K; Zubak Y; Zine-Eddine F; Pearson A; Vig A; Tang CY; Mollica A; Karas J; Tumber A; Yu CW; Billingsley G; Wilson MD; Zeitz C; Héon E; Vincent A
Invest Ophthalmol Vis Sci; 2020 Aug; 61(10):36. PubMed ID: 32881472
[TBL] [Abstract][Full Text] [Related]
9. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R; Del Rosario M; Vissers LELM; Kwint MP; Janssen IM; de Leeuw N; Yntema HG; Nelen MR; Lugtenberg D; Kamsteeg EJ; Wieskamp N; Stegmann APA; Stevens SJC; Rodenburg RJT; Simons A; Mensenkamp AR; Rinne T; Gilissen C; Scheffer H; Veltman JA; Hehir-Kwa JY
Genet Med; 2017 Jun; 19(6):667-675. PubMed ID: 28574513
[TBL] [Abstract][Full Text] [Related]
10. eIF2B-related multisystem disorder in two sisters with atypical presentations.
Lee JS; Lee S; Choi M; Lim BC; Choi J; Kim KJ; Cheon JE; Kim IO; Chae JH
Eur J Paediatr Neurol; 2017 Mar; 21(2):404-409. PubMed ID: 28041799
[TBL] [Abstract][Full Text] [Related]
11. Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS; Tsai CR; Lee HF
Arch Dis Child; 2024 May; ():. PubMed ID: 38789118
[TBL] [Abstract][Full Text] [Related]
12. Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA; Vanderver A; Lockhart PJ; Helman G; Pope K; Uebergang E; Love C; Delatycki MB; Thorburn D; Mackay MT; Peters H; Kornberg AJ; Patel C; Rodriguez-Casero V; Waak M; Silberstein J; Sinclair A; Nolan M; Field M; Davis MR; Fahey M; Scheffer IE; Freeman JL; Wolf NI; Taft RJ; van der Knaap MS; Simons C; Leventer RJ
Eur J Med Genet; 2022 Sep; 65(9):104551. PubMed ID: 35803560
[TBL] [Abstract][Full Text] [Related]
13. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C
J Am Coll Cardiol; 2018 Jul; 72(4):419-429. PubMed ID: 30025578
[TBL] [Abstract][Full Text] [Related]
14. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
Purnell SM; Bleyl SB; Bonkowsky JL
Pediatr Neurol; 2014 Jun; 50(6):608-11. PubMed ID: 24742798
[TBL] [Abstract][Full Text] [Related]
15. Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A; Wali GM; Mahant N; Grosz BR; Ellis M; Narayanan RK; Ng K; Davis RL; Tchan MC; Kotschet K; Yeow D; Rudaks LI; Siow SF; Wali G; Yiannikas C; Hobbs M; Copty J; Geaghan M; Darveniza P; Liang C; Williams LJ; Chang FCF; Morales-Briceño H; Tisch S; Hayes M; Whyte S; Kummerfeld S; Kennerson ML; Cowley MJ; Fung VSC; Sue CM; Kumar KR
Parkinsonism Relat Disord; 2024 Jul; 124():107010. PubMed ID: 38772265
[TBL] [Abstract][Full Text] [Related]
16. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A; Dupuis L; Blaser S; Heon E; Tarnopolsky M; Al-Murshedi F; Marshall CR; Paton T; Scherer SW; ; Roelofsen J; van Kuilenburg AB; Mendoza-Londono R
Eur J Hum Genet; 2015 Mar; 23(3):310-6. PubMed ID: 24961627
[TBL] [Abstract][Full Text] [Related]
17. Inherited leukoencephalopathies with clinical onset in middle and old age.
Nannucci S; Donnini I; Pantoni L
J Neurol Sci; 2014 Dec; 347(1-2):1-13. PubMed ID: 25307983
[TBL] [Abstract][Full Text] [Related]
18. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S; Osaka H; Shiina M; Sasaki M; Takanashi J; Haginoya K; Wada T; Morimoto M; Ando N; Ikuta Y; Nakashima M; Tsurusaki Y; Miyake N; Ogata K; Matsumoto N; Saitsu H
Neurology; 2014 Jun; 82(24):2230-7. PubMed ID: 24850488
[TBL] [Abstract][Full Text] [Related]
19. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.
Kohlschütter A; Bley A; Brockmann K; Gärtner J; Krägeloh-Mann I; Rolfs A; Schöls L
Brain Dev; 2010 Feb; 32(2):82-9. PubMed ID: 19427149
[TBL] [Abstract][Full Text] [Related]
20. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.
Lynch DS; Wade C; Paiva ARB; John N; Kinsella JA; Merwick Á; Ahmed RM; Warren JD; Mummery CJ; Schott JM; Fox NC; Houlden H; Adams ME; Davagnanam I; Murphy E; Chataway J
J Neurol Neurosurg Psychiatry; 2019 May; 90(5):543-554. PubMed ID: 30467211
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
