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 *

432 related articles for article (PubMed ID: 29942082)

  • 1. De novo variants in neurodevelopmental disorders with epilepsy.
    Heyne HO; Singh T; Stamberger H; Abou Jamra R; Caglayan H; Craiu D; De Jonghe P; Guerrini R; Helbig KL; Koeleman BPC; Kosmicki JA; Linnankivi T; May P; Muhle H; Møller RS; Neubauer BA; Palotie A; Pendziwiat M; Striano P; Tang S; Wu S; ; Poduri A; Weber YG; Weckhuysen S; Sisodiya SM; Daly MJ; Helbig I; Lal D; Lemke JR
    Nat Genet; 2018 Jul; 50(7):1048-1053. PubMed ID: 29942082
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
    Lecoquierre F; Duffourd Y; Vitobello A; Bruel AL; Urteaga B; Coubes C; Garret P; Nambot S; Chevarin M; Jouan T; Moutton S; ; Tran-Mau-Them F; Philippe C; Sorlin A; Faivre L; Thauvin-Robinet C
    Genet Med; 2019 Nov; 21(11):2504-2511. PubMed ID: 31036916
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
    Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
    Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
    Padhi EM; Hayeck TJ; Cheng Z; Chatterjee S; Mannion BJ; Byrska-Bishop M; Willems M; Pinson L; Redon S; Benech C; Uguen K; Audebert-Bellanger S; Le Marechal C; Férec C; Efthymiou S; Rahman F; Maqbool S; Maroofian R; Houlden H; Musunuri R; Narzisi G; Abhyankar A; Hunter RD; Akiyama J; Fries LE; Ng JK; Mehinovic E; Stong N; Allen AS; Dickel DE; Bernier RA; Gorkin DU; Pennacchio LA; Zody MC; Turner TN
    Hum Genomics; 2021 Jul; 15(1):44. PubMed ID: 34256850
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
    Pang N; Li K; Tan S; Chen M; He F; Chen C; Yang L; Zhang C; Deng X; Yang L; Mao L; Wang G; Duan H; Wang X; Zhang W; Guo H; Peng J; Yin F; Xia K
    Gene; 2024 Mar; 897():148071. PubMed ID: 38081334
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
    Kosmicki JA; Samocha KE; Howrigan DP; Sanders SJ; Slowikowski K; Lek M; Karczewski KJ; Cutler DJ; Devlin B; Roeder K; Buxbaum JD; Neale BM; MacArthur DG; Wall DP; Robinson EB; Daly MJ
    Nat Genet; 2017 Apr; 49(4):504-510. PubMed ID: 28191890
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
    Hamanaka K; Imagawa E; Koshimizu E; Miyatake S; Tohyama J; Yamagata T; Miyauchi A; Ekhilevitch N; Nakamura F; Kawashima T; Goshima Y; Mohamed AR; Ch'ng GS; Fujita A; Azuma Y; Yasuda K; Imamura S; Nakashima M; Saitsu H; Mitsuhashi S; Mizuguchi T; Takata A; Miyake N; Matsumoto N
    Am J Hum Genet; 2020 Apr; 106(4):549-558. PubMed ID: 32169168
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
    Heyne HO; Artomov M; Battke F; Bianchini C; Smith DR; Liebmann N; Tadigotla V; Stanley CM; Lal D; Rehm H; Lerche H; Daly MJ; Helbig I; Biskup S; Weber YG; Lemke JR
    Genet Med; 2019 Nov; 21(11):2496-2503. PubMed ID: 31056551
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
    Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
    Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
    Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
    JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.
    Nguyen HT; Bryois J; Kim A; Dobbyn A; Huckins LM; Munoz-Manchado AB; Ruderfer DM; Genovese G; Fromer M; Xu X; Pinto D; Linnarsson S; Verhage M; Smit AB; Hjerling-Leffler J; Buxbaum JD; Hultman C; Sklar P; Purcell SM; Lage K; He X; Sullivan PF; Stahl EA
    Genome Med; 2017 Dec; 9(1):114. PubMed ID: 29262854
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
    Zhang Y; Wang T; Wang Y; Xia K; Li J; Sun Z
    Mol Neurobiol; 2021 Aug; 58(8):3863-3873. PubMed ID: 33860439
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.
    Chow J; Jensen M; Amini H; Hormozdiari F; Penn O; Shifman S; Girirajan S; Hormozdiari F
    Genome Med; 2019 Oct; 11(1):65. PubMed ID: 31653223
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
    Smith L; Singhal N; El Achkar CM; Truglio G; Rosen Sheidley B; Sullivan J; Poduri A
    Epilepsia; 2018 Mar; 59(3):679-689. PubMed ID: 29377098
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
    Dulovic-Mahlow M; Trinh J; Kandaswamy KK; Braathen GJ; Di Donato N; Rahikkala E; Beblo S; Werber M; Krajka V; Busk ØL; Baumann H; Al-Sannaa NA; Hinrichs F; Affan R; Navot N; Al Balwi MA; Oprea G; Holla ØL; Weiss MER; Jamra RA; Kahlert AK; Kishore S; Tveten K; Vos M; Rolfs A; Lohmann K
    Am J Hum Genet; 2019 Jul; 105(1):213-220. PubMed ID: 31230721
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
    Chevarin M; Duffourd Y; A Barnard R; Moutton S; Lecoquierre F; Daoud F; Kuentz P; Cabret C; Thevenon J; Gautier E; Callier P; St-Onge J; Jouan T; Lacombe D; Delrue MA; Goizet C; Morice-Picard F; Van-Gils J; Munnich A; Lyonnet S; Cormier-Daire V; Baujat G; Holder M; Petit F; Leheup B; Odent S; Jouk PS; Lopez G; Geneviève D; Collignon P; Martin-Coignard D; Jacquette A; Perrin L; Putoux A; Sarrazin E; Amarof K; Missotte I; Coubes C; Jagadeesh S; Lapi E; Demurger F; Goldenberg A; Doco-Fenzy M; Mignot C; Héron D; Jean-Marçais N; Masurel A; El Chehadeh S; Marle N; Huet F; Binquet C; Collod-Beroud G; Arnaud P; Hanna N; Boileau C; Jondeau G; Olaso R; Lechner D; Poe C; Assoum M; Carmignac V; Duplomb L; Tran Mau-Them F; Philippe C; Vitobello A; Bruel AL; Boland A; Deleuze JF; Thauvin-Robinet C; Rivière JB; O'Roak BJ; Faivre L
    J Med Genet; 2020 Jul; 57(7):466-474. PubMed ID: 32277047
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
    Semino F; Schröter J; Willemsen MH; Bast T; Biskup S; Beck-Woedl S; Brennenstuhl H; Schaaf CP; Kölker S; Hoffmann GF; Haack TB; Syrbe S
    Hum Mutat; 2021 Sep; 42(9):1094-1100. PubMed ID: 34157790
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.