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24. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity. Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683 [TBL] [Abstract][Full Text] [Related]
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26. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Thevenon J; Monnier N; Callier P; Dieterich K; Francoise M; Montgomery T; Kjaergaard S; Neas K; Dixon J; Dahm TL; Huet F; Ragon C; Mosca-Boidron AL; Marle N; Duplomb L; Aubriot-Lorton MH; Mugneret F; Vokes SA; Tucker HW; Lunardi J; Faivre L; Jouk PS; Thauvin-Robinet C Am J Med Genet A; 2014 Dec; 164A(12):3027-34. PubMed ID: 25258245 [TBL] [Abstract][Full Text] [Related]
27. Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals. Koene S; Ropers FG; Wieland J; Rybak T; Wildschut F; Berghuis D; Morgan A; Trelles MP; Scheepe JR; Bökenkamp R; Peeters-Scholte CMPCD; Braden R; Santen GWE J Med Genet; 2024 Mar; 61(4):399-404. PubMed ID: 38123995 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms. Trelles MP; Levy T; Lerman B; Siper P; Lozano R; Halpern D; Walker H; Zweifach J; Frank Y; Foss-Feig J; Kolevzon A; Buxbaum J Mol Autism; 2021 Sep; 12(1):61. PubMed ID: 34588003 [TBL] [Abstract][Full Text] [Related]
30. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Niceta M; Pizzi S; Inzana F; Peron A; Bakhtiari S; Nizon M; Levy J; Mancini C; Cogné B; Radio FC; Agolini E; Cocciadiferro D; Novelli A; Salih MA; Recalcati MP; Arancio R; Besnard M; Tabet AC; Kruer MC; Priolo M; Dallapiccola B; Tartaglia M Clin Genet; 2023 Feb; 103(2):156-166. PubMed ID: 36224108 [TBL] [Abstract][Full Text] [Related]
31. Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability. Moirangthem A; Phadke SR Am J Med Genet A; 2021 Apr; 185(4):1324-1327. PubMed ID: 33427368 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. Araujo DJ; Anderson AG; Berto S; Runnels W; Harper M; Ammanuel S; Rieger MA; Huang HC; Rajkovich K; Loerwald KW; Dekker JD; Tucker HO; Dougherty JD; Gibson JR; Konopka G Genes Dev; 2015 Oct; 29(20):2081-96. PubMed ID: 26494785 [TBL] [Abstract][Full Text] [Related]
34. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258 [TBL] [Abstract][Full Text] [Related]
35. Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions. Sollis E; den Hoed J; Quevedo M; Estruch SB; Vino A; Dekkers DHW; Demmers JAA; Poot R; Deriziotis P; Fisher SE Hum Mol Genet; 2023 Apr; 32(9):1497-1510. PubMed ID: 36579832 [TBL] [Abstract][Full Text] [Related]
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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]
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