These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 33287870)

  • 21. 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]  

  • 22. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Detection of copy number variations in epilepsy using exome data.
    Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N
    Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
    Forman EB; Gorman KM; Conroy J; Arthur N; Grant C; Ennis S; Allen NM; Lynch SA; King MD
    Arch Dis Child; 2018 Mar; 103(3):304. PubMed ID: 28939639
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
    Dyment DA; Tétreault M; Beaulieu CL; Hartley T; Ferreira P; Chardon JW; Marcadier J; Sawyer SL; Mosca SJ; Innes AM; Parboosingh JS; Bulman DE; Schwartzentruber J; Majewski J; Tarnopolsky M; Boycott KM; ;
    Clin Genet; 2015 Jul; 88(1):34-40. PubMed ID: 25046240
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
    Holland KD; Bouley TM; Horn PS
    Epilepsia; 2017 Jul; 58(7):1190-1198. PubMed ID: 28518218
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Rare coding variants in genes encoding GABA
    May P; Girard S; Harrer M; Bobbili DR; Schubert J; Wolking S; Becker F; Lachance-Touchette P; Meloche C; Gravel M; Niturad CE; Knaus J; De Kovel C; Toliat M; Polvi A; Iacomino M; Guerrero-López R; Baulac S; Marini C; Thiele H; Altmüller J; Jabbari K; Ruppert AK; Jurkowski W; Lal D; Rusconi R; Cestèle S; Terragni B; Coombs ID; Reid CA; Striano P; Caglayan H; Siren A; Everett K; Møller RS; Hjalgrim H; Muhle H; Helbig I; Kunz WS; Weber YG; Weckhuysen S; Jonghe P; Sisodiya SM; Nabbout R; Franceschetti S; Coppola A; Vari MS; Kasteleijn-Nolst Trenité D; Baykan B; Ozbek U; Bebek N; Klein KM; Rosenow F; Nguyen DK; Dubeau F; Carmant L; Lortie A; Desbiens R; Clément JF; Cieuta-Walti C; Sills GJ; Auce P; Francis B; Johnson MR; Marson AG; Berghuis B; Sander JW; Avbersek A; McCormack M; Cavalleri GL; Delanty N; Depondt C; Krenn M; Zimprich F; Peter S; Nikanorova M; Kraaij R; van Rooij J; Balling R; Ikram MA; Uitterlinden AG; Avanzini G; Schorge S; Petrou S; Mantegazza M; Sander T; LeGuern E; Serratosa JM; Koeleman BPC; Palotie A; Lehesjoki AE; Nothnagel M; Nürnberg P; Maljevic S; Zara F; Cossette P; Krause R; Lerche H; ; ;
    Lancet Neurol; 2018 Aug; 17(8):699-708. PubMed ID: 30033060
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.
    Numis AL; da Gente G; Sherr EH; Glass HC
    Pediatr Res; 2022 Mar; 91(4):896-902. PubMed ID: 33846556
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
    Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Coban Akdemir ZH; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ
    Genet Med; 2017 Apr; 19(4):412-420. PubMed ID: 27657687
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH; Shin S; Yang D; Kim B; Kim HD; Kim S; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.
    Chen X; Jin J; Wang Q; Xue H; Zhang N; Du Y; Zhang T; Zhang B; Wu J; Liu Z
    Hum Mutat; 2019 Mar; 40(3):281-287. PubMed ID: 30488659
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.
    Triono A; Iskandar K; Hadiyanto ML; Nugrahanto AP; Diantika K; Wijayanti VW; Herini ES
    PLoS One; 2023; 18(10):e0293113. PubMed ID: 37878632
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
    Epilepsy Genetics Initiative
    Epilepsia; 2019 May; 60(5):797-806. PubMed ID: 30951195
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK
    Mol Genet Genomic Med; 2018 Mar; 6(2):186-199. PubMed ID: 29314763
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
    Scantlebury MH; Barrett KT; Jacinto S; Corbin DOC; Kerr M; Khan A
    Pan Afr Med J; 2021; 38():111. PubMed ID: 33912281
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 14.