359 related articles for article (PubMed ID: 31957018)
1. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A; Olson HE; Smith L; Keith LG; El Achkar C; Taylor A; Mahida S; Park M; Kelly M; Shain C; Rockowitz S; Rosen Sheidley B; Poduri A
Epilepsia; 2020 Feb; 61(2):249-258. PubMed ID: 31957018
[TBL] [Abstract][Full Text] [Related]
2. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L; Sterbova K; Vlckova M; Seeman P; Zarubova J; Marusic P; Krsek P; Krijtova H; Musilova A; Lassuthova P
Eur J Paediatr Neurol; 2024 Jan; 48():17-29. PubMed ID: 38008000
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
6. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY; Jang SS; Kim H; Hwang H; Choi JE; Chae JH; Kim KJ; Lim BC
Clin Genet; 2021 Mar; 99(3):418-424. PubMed ID: 33349918
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S; Haslinger D; Lindlar S; Thiele H; Bernsen N; Zahnert F; Reif PS; Balcik Y; Au PYB; Josephson CB; Altmüller J; Strzelczyk A; Knake S; Rosenow F; Chiocchetti A; Klein KM
Epilepsia Open; 2023 Jun; 8(2):497-508. PubMed ID: 36896643
[TBL] [Abstract][Full Text] [Related]
9. Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V; Martínez N; Maturo JP; Rodriguez-Quiroga SA; Zavala L; Medina N; Amartino H; Sfaello I; Agosta G; Serafín EM; Morón DG; Kauffman MA; Vega P
Eur J Med Genet; 2021 Dec; 64(12):104363. PubMed ID: 34673242
[TBL] [Abstract][Full Text] [Related]
10. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
11. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca P; Scheffer IE; Harvey AS; James PA; Lunke S; Thorne N; Gaff C; Regan BM; Damiano JA; Hildebrand MS; Berkovic SF; O'Brien TJ; Kwan P
Epilepsy Res; 2017 Mar; 131():1-8. PubMed ID: 28199897
[TBL] [Abstract][Full Text] [Related]
12. Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Li J; Gao K; Yan H; Xiangwei W; Liu N; Wang T; Xu H; Lin Z; Xie H; Wang J; Wu Y; Jiang Y
Gene; 2019 Jun; 700():168-175. PubMed ID: 30904718
[TBL] [Abstract][Full Text] [Related]
13. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY; Smith L; Wiltrout KN; Podury A; Chourasia N; D'Gama AM; Park M; Knight D; Sexton EL; Koh JJ; Oby B; Pinsky R; Shao DD; French CE; Shao W; Rockowitz S; Sliz P; Zhang B; Mahida S; Moufawad El Achkar C; Yuskaitis CJ; Olson HE; Sheidley BR; Poduri AH;
JAMA Netw Open; 2023 Jul; 6(7):e2324380. PubMed ID: 37471090
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Dunn PJ; Maher BH; Albury CL; Stuart S; Sutherland HG; Maksemous N; Benton MC; Smith RA; Haupt LM; Griffiths LR
Mol Genet Genomics; 2020 May; 295(3):751-763. PubMed ID: 32146541
[TBL] [Abstract][Full Text] [Related]
16. Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY; Yapıcı Z; Özbil M; Çağlayan HS
Seizure; 2024 Mar; 116():51-64. PubMed ID: 37353388
[TBL] [Abstract][Full Text] [Related]
17. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J; DeChene ET; Akgumus G; Romasko EJ; Cao K; Dubbs HA; Mulchandani S; Spinner NB; Conlin LK; Marsh ED; Goldberg E; Helbig I; Sarmady M; Abou Tayoun A
JAMA Netw Open; 2019 Apr; 2(4):e192129. PubMed ID: 30977854
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
[TBL] [Abstract][Full Text] [Related]
19. Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.
Ream MA; Mikati MA
Epilepsy Behav; 2014 Aug; 37():241-8. PubMed ID: 25108116
[TBL] [Abstract][Full Text] [Related]
20. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
;
Am J Hum Genet; 2019 Aug; 105(2):267-282. PubMed ID: 31327507
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]