586 related articles for article (PubMed ID: 30670789)
1. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
Yasin H; Gibson WT; Langlois S; Stowe RM; Tsang ES; Lee L; Poon J; Tran G; Tyson C; Wong CK; Marra MA; Friedman JM; Zahir FR
J Hum Genet; 2019 Apr; 64(4):271-280. PubMed ID: 30670789
[TBL] [Abstract][Full Text] [Related]
2. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
Zahir F; Firth HV; Baross A; Delaney AD; Eydoux P; Gibson WT; Langlois S; Martin H; Willatt L; Marra MA; Friedman JM
J Med Genet; 2007 Sep; 44(9):556-61. PubMed ID: 17545556
[TBL] [Abstract][Full Text] [Related]
3. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Smyk M; Poluha A; Jaszczuk I; Bartnik M; Bernaciak J; Nowakowska B
Am J Med Genet A; 2016 May; 170A(5):1325-9. PubMed ID: 26834018
[TBL] [Abstract][Full Text] [Related]
4. Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Smol T; Thuillier C; Boudry-Labis E; Dieux-Coeslier A; Duban-Bedu B; Caumes R; Bouquillon S; Manouvrier-Hanu S; Roche-Lestienne C; Ghoumid J
Neurogenetics; 2020 Jan; 21(1):67-72. PubMed ID: 31823155
[TBL] [Abstract][Full Text] [Related]
5. Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
Drabova J; Seemanova E; Hancarova M; Pourova R; Horacek M; Jancuskova T; Pekova S; Novotna D; Sedlacek Z
Am J Med Genet A; 2015 Apr; 167A(4):837-41. PubMed ID: 25735987
[TBL] [Abstract][Full Text] [Related]
6. Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Prontera P; Ottaviani V; Toccaceli D; Rogaia D; Ardisia C; Romani R; Stangoni G; Pierini A; Donti E
Am J Med Genet A; 2014 Dec; 164A(12):3137-41. PubMed ID: 25257502
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE; Hurst ACE; Bowling KM; Cristian I; Haynes D; Adstamongkonkul D; Schnappauf O; Beck DB; Brewer C; Parikh AS; Shinde DN; Donaldson A; Brautbar A; Koene S; van Haeringen A; Piton A; Capri Y; Furlan M; Gardella E; Møller RS; van de Beek I; Zuurbier L; Lakeman P; Bayat A; Martinez J; Signer R; Torring PM; Engelund MB; Gripp KW; Amlie-Wolf L; Henderson LB; Midro AT; Tarasów E; Stasiewicz-Jarocka B; Moskal-Jasinska D; Vos P; Boschann F; Stoltenburg C; Puk O; Mero IL; Lossius K; Mignot C; Keren B; Acosta Guio JC; Briceño I; Gomez A; Yang Y; Stankiewicz P
Am J Med Genet A; 2021 May; 185(5):1366-1378. PubMed ID: 33522091
[TBL] [Abstract][Full Text] [Related]
8. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
[TBL] [Abstract][Full Text] [Related]
9. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM; Truijen KMG; van de Ven S; Bernier R; Bongers EMHF; Bouman A; de Graaff-Herder L; Eichler EE; Gerkes EH; De Geus CM; van Hagen JM; Jansen PR; Kerkhof J; Kievit AJA; Kleefstra T; Maas SM; de Man SA; McConkey H; Patterson WG; Dobson AT; Prijoles EJ; Sadikovic B; Relator R; Stevenson RE; Stumpel CTRM; Heijligers M; Stuurman KE; Löhner K; Zeidler S; Lee JA; Lindy A; Zou F; Tedder ML; Vissers LELM; de Vries BBA
Transl Psychiatry; 2022 Oct; 12(1):421. PubMed ID: 36182950
[TBL] [Abstract][Full Text] [Related]
10. The clinical presentation caused by truncating CHD8 variants.
Douzgou S; Liang HW; Metcalfe K; Somarathi S; Tischkowitz M; Mohamed W; Kini U; McKee S; Yates L; Bertoli M; Lynch SA; Holder S; ; Banka S
Clin Genet; 2019 Jul; 96(1):72-84. PubMed ID: 31001818
[TBL] [Abstract][Full Text] [Related]
11. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
12. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
Cosemans N; Vandenhove L; Maljaars J; Van Esch H; Devriendt K; Baldwin A; Fryns JP; Noens I; Peeters H
Eur J Med Genet; 2018 Jul; 61(7):376-383. PubMed ID: 29427787
[TBL] [Abstract][Full Text] [Related]
13. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
[TBL] [Abstract][Full Text] [Related]
14. Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.
Kurata H; Shirai K; Saito Y; Okazaki T; Ohno K; Oguri M; Adachi K; Nanba E; Maegaki Y
Brain Dev; 2018 Jan; 40(1):36-41. PubMed ID: 28774669
[TBL] [Abstract][Full Text] [Related]
15. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
16. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
[TBL] [Abstract][Full Text] [Related]
17. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
[TBL] [Abstract][Full Text] [Related]
18. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD; Oleson DS; Rech ME; Segebrecht L; Hunter JV; McCarthy JM; Lupo PJ; Holtgrewe M; Moran R; Rosenfeld JA; Isidor B; Le Caignec C; Saenz MS; Pedersen RC; Morgan TM; Pfotenhauer JP; Xia F; Bi W; Kang SL; Patel A; Krantz ID; Raible SE; Smith W; Cristian I; Torti E; Juusola J; Millan F; Wentzensen IM; Person RE; Küry S; Bézieau S; Uguen K; Férec C; Munnich A; van Haelst M; Lichtenbelt KD; van Gassen K; Hagelstrom T; Chawla A; Perry DL; Taft RJ; Jones M; Masser-Frye D; Dyment D; Venkateswaran S; Li C; Escobar LF; Horn D; Spillmann RC; Peña L; Wierzba J; Strom TM; Parenti I; Kaiser FJ; Ehmke N; Schaaf CP
Genet Med; 2019 Aug; 21(8):1797-1807. PubMed ID: 30679821
[TBL] [Abstract][Full Text] [Related]
19. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
[TBL] [Abstract][Full Text] [Related]
20. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; ; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
Biol Psychiatry; 2019 Feb; 85(4):287-297. PubMed ID: 29724491
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
