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.
211 related articles for article (PubMed ID: 39047730)
1. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder. Yoon JG; Lim SK; Seo H; Lee S; Cho J; Kim SY; Koh HY; Poduri AH; Ramakumaran V; Vasudevan P; de Groot MJ; Ko JM; Han D; Chae JH; Lee CH Am J Hum Genet; 2024 Aug; 111(8):1588-1604. PubMed ID: 39047730 [TBL] [Abstract][Full Text] [Related]
2. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333 [TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation. Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Hiatt SM; Thompson ML; Prokop JW; Lawlor JMJ; Gray DE; Bebin EM; Rinne T; Kempers M; Pfundt R; van Bon BW; Mignot C; Nava C; Depienne C; Kalsner L; Rauch A; Joset P; Bachmann-Gagescu R; Wentzensen IM; McWalter K; Cooper GM Am J Hum Genet; 2019 Apr; 104(4):701-708. PubMed ID: 30879638 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ; J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566 [TBL] [Abstract][Full Text] [Related]
10. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Karayol R; Borroto MC; Haghshenas S; Namasivayam A; Reilly J; Levy MA; Relator R; Kerkhof J; McConkey H; Shvedunova M; Petersen AK; Magnussen K; Zweier C; Vasileiou G; Reis A; Savatt JM; Mulligan MR; Bicknell LS; Poke G; Abu-El-Haija A; Duis J; Hannig V; Srivastava S; Barkoudah E; Hauser NS; van den Born M; Hamiel U; Henig N; Baris Feldman H; McKee S; Krapels IPC; Lei Y; Todorova A; Yordanova R; Atemin S; Rogac M; McConnell V; Chassevent A; Barañano KW; Shashi V; Sullivan JA; Peron A; Iascone M; Canevini MP; Friedman J; Reyes IA; Kierstein J; Shen JJ; Ahmed FN; Mao X; Almoguera B; Blanco-Kelly F; Platzer K; Treu AB; Quilichini J; Bourgois A; Chatron N; Januel L; Rougeot C; Carere DA; Monaghan KG; Rousseau J; Myers KA; Sadikovic B; Akhtar A; Campeau PM Am J Hum Genet; 2024 Jul; 111(7):1330-1351. PubMed ID: 38815585 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH Mol Autism; 2019; 10():35. PubMed ID: 31649809 [TBL] [Abstract][Full Text] [Related]
13. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479 [TBL] [Abstract][Full Text] [Related]
14. Deacetylase-independent function of HDAC3 in transcription and metabolism requires nuclear receptor corepressor. Sun Z; Feng D; Fang B; Mullican SE; You SH; Lim HW; Everett LJ; Nabel CS; Li Y; Selvakumaran V; Won KJ; Lazar MA Mol Cell; 2013 Dec; 52(6):769-82. PubMed ID: 24268577 [TBL] [Abstract][Full Text] [Related]
15. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996 [TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806 [TBL] [Abstract][Full Text] [Related]
17. De novo variants in CNOT3 cause a variable neurodevelopmental disorder. Martin R; Splitt M; Genevieve D; Aten E; Collins A; de Bie CI; Faivre L; Foulds N; Giltay J; Ibitoye R; Joss S; Kennedy J; Kerr B; Kivuva E; Koopmans M; Newbury-Ecob R; Jean-Marçais N; Peeters EAJ; Smithson S; Tomkins S; Tranmauthem F; Piton A; van Haeringen A Eur J Hum Genet; 2019 Nov; 27(11):1677-1682. PubMed ID: 31201375 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. HDAC3 ensures stepwise epidermal stratification via NCoR/SMRT-reliant mechanisms independent of its histone deacetylase activity. Szigety KM; Liu F; Yuan CY; Moran DJ; Horrell J; Gochnauer HR; Cohen RN; Katz JP; Kaestner KH; Seykora JT; Tobias JW; Lazar MA; Xu M; Millar SE Genes Dev; 2020 Jul; 34(13-14):973-988. PubMed ID: 32467224 [TBL] [Abstract][Full Text] [Related]
20. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Kreienkamp HJ; Wagner M; Weigand H; McConkie-Rossell A; McDonald M; Keren B; Mignot C; Gauthier J; Soucy JF; Michaud JL; Dumas M; Smith R; Löbel U; Hempel M; Kubisch C; Denecke J; Campeau PM; Bain JM; Lessel D Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]