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 *

150 related articles for article (PubMed ID: 37756314)

  • 1. Unraveling the role of non-coding rare variants in epilepsy.
    Girard A; Moreau C; Michaud JL; Minassian B; Cossette P; Girard SL
    PLoS One; 2023; 18(9):e0291935. PubMed ID: 37756314
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
    Koko M; Krause R; Sander T; Bobbili DR; Nothnagel M; May P; Lerche H;
    EBioMedicine; 2021 Oct; 72():103588. PubMed ID: 34571366
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
    ;
    Lancet Neurol; 2017 Feb; 16(2):135-143. PubMed ID: 28102150
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
    Bundalian L; Su YY; Chen S; Velluva A; Kirstein AS; Garten A; Biskup S; Battke F; Lal D; Heyne HO; Platzer K; Lin CC; Lemke JR; Le Duc D;
    Am J Hum Genet; 2023 Jul; 110(7):1110-1122. PubMed ID: 37369202
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.
    Bundalian L; Su YY; Chen S; Velluva A; Kirstein AS; Garten A; Biskup S; Battke F; Lal D; Heyne HO; Platzer K; Lin CC; Lemke JR; Le Duc D;
    medRxiv; 2023 Mar; ():. PubMed ID: 36974069
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
    Koko M; Motelow JE; Stanley KE; Bobbili DR; Dhindsa RS; May P; ; ; ; ;
    Epilepsia; 2022 Mar; 63(3):723-735. PubMed ID: 35032048
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
    Oliver KL; Ellis CA; Scheffer IE; Ganesan S; Leu C; Sadleir LG; Heinzen EL; Mefford HC; Bass AJ; Curtis SW; Harris RV; ; Whiteman DC; Helbig I; Ottman R; Epstein MP; Bahlo M; Berkovic SF
    EBioMedicine; 2022 Jul; 81():104079. PubMed ID: 35636315
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
    Moreau C; Tremblay F; Wolking S; Girard A; Laprise C; Hamdan FF; Michaud JL; Minassian BA; Cossette P; Girard SL
    Ann Clin Transl Neurol; 2022 Jul; 9(7):1050-1058. PubMed ID: 35678011
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
    Lal D; Ruppert AK; Trucks H; Schulz H; de Kovel CG; Kasteleijn-Nolst Trenité D; Sonsma AC; Koeleman BP; Lindhout D; Weber YG; Lerche H; Kapser C; Schankin CJ; Kunz WS; Surges R; Elger CE; Gaus V; Schmitz B; Helbig I; Muhle H; Stephani U; Klein KM; Rosenow F; Neubauer BA; Reinthaler EM; Zimprich F; Feucht M; Møller RS; Hjalgrim H; De Jonghe P; Suls A; Lieb W; Franke A; Strauch K; Gieger C; Schurmann C; Schminke U; Nürnberg P; ; Sander T
    PLoS Genet; 2015 May; 11(5):e1005226. PubMed ID: 25950944
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
    Pérez-Palma E; Helbig I; Klein KM; Anttila V; Horn H; Reinthaler EM; Gormley P; Ganna A; Byrnes A; Pernhorst K; Toliat MR; Saarentaus E; Howrigan DP; Hoffman P; Miquel JF; De Ferrari GV; Nürnberg P; Lerche H; Zimprich F; Neubauer BA; Becker AJ; Rosenow F; Perucca E; Zara F; Weber YG; Lal D
    J Med Genet; 2017 Sep; 54(9):598-606. PubMed ID: 28756411
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
    Krüger J; Schubert J; Kegele J; Labalme A; Mao M; Heighway J; Seebohm G; Yan P; Koko M; Aslan-Kara K; Caglayan H; Steinhoff BJ; Weber YG; Keo-Kosal P; Berkovic SF; Hildebrand MS; Petrou S; Krause R; May P; Lesca G; Maljevic S; Lerche H
    EBioMedicine; 2022 Oct; 84():104244. PubMed ID: 36088682
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing.
    Gamirova R; Shagimardanova E; Sato T; Kannon T; Gamirova R; Tajima A
    J Hum Genet; 2024 Feb; 69(2):59-67. PubMed ID: 37993639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
    Landoulsi Z; Laatar F; Noé E; Mrabet S; Ben Djebara M; Achaz G; Nava C; Baulac S; Kacem I; Gargouri-Berrechid A; Gouider R; Leguern E
    Neurogenetics; 2018 Aug; 19(3):165-178. PubMed ID: 29948376
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare gene deletions in genetic generalized and Rolandic epilepsies.
    Jabbari K; Bobbili DR; Lal D; Reinthaler EM; Schubert J; Wolking S; Sinha V; Motameny S; Thiele H; Kawalia A; Altmüller J; Toliat MR; Kraaij R; van Rooij J; Uitterlinden AG; Ikram MA; ; Zara F; Lehesjoki AE; Krause R; Zimprich F; Sander T; Neubauer BA; May P; Lerche H; Nürnberg P
    PLoS One; 2018; 13(8):e0202022. PubMed ID: 30148849
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unraveling the genetics of common epilepsies: approaches, platforms, and caveats.
    Petrovski S; Kwan P
    Epilepsy Behav; 2013 Mar; 26(3):229-33. PubMed ID: 23103323
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic generalized and focal epilepsy prevalence in the North American SUDEP Registry.
    Verducci C; Friedman D; Donner E; Devinsky O
    Neurology; 2020 Apr; 94(16):e1757-e1763. PubMed ID: 32217773
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
    Heinzen EL; Depondt C; Cavalleri GL; Ruzzo EK; Walley NM; Need AC; Ge D; He M; Cirulli ET; Zhao Q; Cronin KD; Gumbs CE; Campbell CR; Hong LK; Maia JM; Shianna KV; McCormack M; Radtke RA; O'Conner GD; Mikati MA; Gallentine WB; Husain AM; Sinha SR; Chinthapalli K; Puranam RS; McNamara JO; Ottman R; Sisodiya SM; Delanty N; Goldstein DB
    Am J Hum Genet; 2012 Aug; 91(2):293-302. PubMed ID: 22863189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.