375 related articles for article (PubMed ID: 33004838)
1. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid BM; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; ; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Nat Commun; 2020 Oct; 11(1):4932. PubMed ID: 33004838
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.
Li B; Li K; Tian D; Zhou Q; Xie Y; Fang Z; Wang X; Luo T; Wang Z; Zhang Y; Wang Y; Chen Q; Meng Q; Zhao G; Li J
J Mol Med (Berl); 2020 Dec; 98(12):1701-1712. PubMed ID: 33047154
[TBL] [Abstract][Full Text] [Related]
4. Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Turner TN; Wilfert AB; Bakken TE; Bernier RA; Pepper MR; Zhang Z; Torene RI; Retterer K; Eichler EE
Am J Hum Genet; 2019 Dec; 105(6):1274-1285. PubMed ID: 31785789
[TBL] [Abstract][Full Text] [Related]
5. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
[TBL] [Abstract][Full Text] [Related]
6. Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.
Wang T; Zhang Y; Liu L; Wang Y; Chen H; Fan T; Li J; Xia K; Sun Z
J Genet Genomics; 2021 Apr; 48(4):312-323. PubMed ID: 33994118
[TBL] [Abstract][Full Text] [Related]
7. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K; Miyake N; Mizuguchi T; Miyatake S; Uchiyama Y; Tsuchida N; Sekiguchi F; Mitsuhashi S; Tsurusaki Y; Nakashima M; Saitsu H; Yamada K; Sakamoto M; Fukuda H; Ohori S; Saida K; Itai T; Azuma Y; Koshimizu E; Fujita A; Erturk B; Hiraki Y; Ch'ng GS; Kato M; Okamoto N; Takata A; Matsumoto N
Genome Med; 2022 Apr; 14(1):40. PubMed ID: 35468861
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Hanly C; Shah H; Au PYB; Murias K
Clin Genet; 2021 Mar; 99(3):335-346. PubMed ID: 33179249
[TBL] [Abstract][Full Text] [Related]
10. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C; Nava C; Keren B; Heide S; Rastetter A; Passemard S; Chantot-Bastaraud S; Moutard ML; Agrawal PB; VanNoy G; Stoler JM; Amor DJ; Billette de Villemeur T; Doummar D; Alby C; Cormier-Daire V; Garel C; Marzin P; Scheidecker S; de Saint-Martin A; Hirsch E; Korff C; Bottani A; Faivre L; Verloes A; Orzechowski C; Burglen L; Leheup B; Roume J; Andrieux J; Sheth F; Datar C; Parker MJ; Pasquier L; Odent S; Naudion S; Delrue MA; Le Caignec C; Vincent M; Isidor B; Renaldo F; Stewart F; Toutain A; Koehler U; Häckl B; von Stülpnagel C; Kluger G; Møller RS; Pal D; Jonson T; Soller M; Verbeek NE; van Haelst MM; de Kovel C; Koeleman B; Monroe G; van Haaften G; ; Attié-Bitach T; Boutaud L; Héron D; Mignot C
Hum Genet; 2017 Apr; 136(4):463-479. PubMed ID: 28283832
[TBL] [Abstract][Full Text] [Related]
11. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Wilfert AB; Sulovari A; Turner TN; Coe BP; Eichler EE
Genome Med; 2017 Nov; 9(1):101. PubMed ID: 29179772
[TBL] [Abstract][Full Text] [Related]
12. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Wang T; Kim CN; Bakken TE; Gillentine MA; Henning B; Mao Y; Gilissen C; ; Nowakowski TJ; Eichler EE
Proc Natl Acad Sci U S A; 2022 Nov; 119(46):e2203491119. PubMed ID: 36350923
[TBL] [Abstract][Full Text] [Related]
13. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
[TBL] [Abstract][Full Text] [Related]
14. Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
Han L; Chen M; Wang Y; Wu H; Quan Y; Bai T; Li K; Duan G; Gao Y; Hu Z; Xia K; Guo H
Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Torene RI; Guillen Sacoto MJ; Millan F; Zhang Z; McGee S; Oetjens M; Heise E; Chong K; Sidlow R; O'Grady L; Sahai I; Martin CL; Ledbetter DH; Myers SM; Mitchell KJ; Retterer K
Am J Hum Genet; 2024 Jan; 111(1):70-81. PubMed ID: 38091987
[TBL] [Abstract][Full Text] [Related]
18. Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.
Chow JC; Hormozdiari F
J Autism Dev Disord; 2023 Mar; 53(3):963-976. PubMed ID: 35596027
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Wiel L; Hampstead JE; Venselaar H; Vissers LELM; Brunner HG; Pfundt R; Vriend G; Veltman JA; Gilissen C
Am J Hum Genet; 2023 Jan; 110(1):92-104. PubMed ID: 36563679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
