159 related articles for article (PubMed ID: 37644171)
21. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
22. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
23. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin Y; Wang T; Gillentine MA; Scott TM; Berry AM; Azamian MS; Genetti C; Agrawal PB; Picker J; Wojcik MH; Delgado MR; Lynch SA; Scherer SW; Howe JL; Bacino CA; DiTroia S; VanNoy GE; O'Donnell-Luria A; Lalani SR; Graf WD; Rosenfeld JA; Eichler EE; Earl RK; Scott DA
Hum Mutat; 2022 Apr; 43(4):461-470. PubMed ID: 35094443
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Li D; Downes H; Hou C; Hakonarson H; Zackai EH; Schrier Vergano SA; Bhoj EJ
Am J Med Genet A; 2022 Mar; 188(3):878-882. PubMed ID: 34881817
[TBL] [Abstract][Full Text] [Related]
26. Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Pande S; Mascarenhas S; Venkatraman A; Bhat V; Narayanan DL; Siddiqui S; Bielas S; Girisha KM; Shukla A
Am J Med Genet A; 2023 Aug; 191(8):2175-2180. PubMed ID: 37337996
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J
Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025
[TBL] [Abstract][Full Text] [Related]
29. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Lévy J; Cogan G; Maruani A; Maillard A; Dupont C; Drunat S; Rachid M; Atzori P; Delorme R; Jeyarajah S; Isidor B; Pichon O; Moradkhani K; Verloes A; Tabet AC
Clin Genet; 2022 Mar; 101(3):364-370. PubMed ID: 34904221
[TBL] [Abstract][Full Text] [Related]
32. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid BM; Azzarello-Burri S; Basinger AA; Bianchini C; Bird LM; Buchert R; Carre W; Ceulemans S; Charles P; Cox H; Culliton L; Currò A; ; Demurger F; Dowling JJ; Duban-Bedu B; Dubourg C; Eiset SE; Escobar LF; Ferrarini A; Haack TB; Hashim M; Heide S; Helbig KL; Helbig I; Heredia R; Héron D; Isidor B; Jonasson AR; Joset P; Keren B; Kok F; Kroes HY; Lavillaureix A; Lu X; Maas SM; Maegawa GHB; Marcelis CLM; Mark PR; Masruha MR; McLaughlin HM; McWalter K; Melchinger EU; Mercimek-Andrews S; Nava C; Pendziwiat M; Person R; Ramelli GP; Ramos LLP; Rauch A; Reavey C; Renieri A; Rieß A; Sanchez-Valle A; Sattar S; Saunders C; Schwarz N; Smol T; Srour M; Steindl K; Syrbe S; Taylor JC; Telegrafi A; Thiffault I; Trauner DA; van der Linden H; van Koningsbruggen S; Villard L; Vogel I; Vogt J; Weber YG; Wentzensen IM; Widjaja E; Zak J; Baxter S; Banka S; Rodan LH
Am J Hum Genet; 2019 Jun; 104(6):1210-1222. PubMed ID: 31079897
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
35. A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A; Liu Z; Luo S; Fenger CD; Højte AF; Isidor B; Cogne B; Larson A; Zanus C; Faletra F; Keren B; Musante L; Gourfinkel-An I; Perrine C; Demily C; Lesca G; Liao W; Ren D
Genet Med; 2023 Sep; 25(9):100894. PubMed ID: 37183800
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P; Marey I; Tabet AC; Levy J; Perrin L; Hartmann A; Lesca G; Schluth-Bolard C; Monin P; Dupuis-Girod S; Guillen Sacoto MJ; Schnur RE; Zhu Z; Poisson A; El Chehadeh S; Alembik Y; Bruel AL; Lehalle D; Nambot S; Moutton S; Odent S; Jaillard S; Dubourg C; Hilhorst-Hofstee Y; Barbaro-Dieber T; Ortega L; Bhoj EJ; Masser-Frye D; Bird LM; Lindstrom K; Ramsey KM; Narayanan V; Fassi E; Willing M; Cole T; Salter CG; Akilapa R; Vandersteen A; Canham N; Rump P; Gerkes EH; Klein Wassink-Ruiter JS; Bijlsma E; Hoffer MJV; Vargas M; Wojcik A; Cherik F; Francannet C; Rosenfeld JA; Machol K; Scott DA; Bacino CA; Wang X; Clark GD; Bertoli M; Zwolinski S; Thomas RH; Akay E; Chang RC; Bressi R; Sanchez Russo R; Srour M; Russell L; Goyette AE; Dupuis L; Mendoza-Londono R; Karimov C; Joseph M; Nizon M; Cogné B; Kuechler A; Piton A; ; Klee EW; Lefebvre V; Clark KJ; Depienne C
Genet Med; 2020 Mar; 22(3):524-537. PubMed ID: 31578471
[TBL] [Abstract][Full Text] [Related]
38. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth K; Lozic B; Tagoe J; Hoffer MJV; Van der Ven A; Thiele H; Altmüller J; Kubisch C; Au PYB; Denecke J; Bijlsma EK; Lessel D
Neurogenetics; 2021 Oct; 22(4):263-269. PubMed ID: 34218362
[TBL] [Abstract][Full Text] [Related]
39.
Hubert L; Cannata Serio M; Villoing-Gaudé L; Boddaert N; Kaminska A; Rio M; Lyonnet S; Munnich A; Poirier K; Simons M; Besmond C
J Med Genet; 2020 Feb; 57(2):138-144. PubMed ID: 31439720
[TBL] [Abstract][Full Text] [Related]
40. DYRK1A mutations in two unrelated patients.
Ruaud L; Mignot C; Guët A; Ohl C; Nava C; Héron D; Keren B; Depienne C; Benoit V; Maystadt I; Lederer D; Amsallem D; Piard J
Eur J Med Genet; 2015 Mar; 58(3):168-74. PubMed ID: 25641759
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
