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9. The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. McDermott JH; Study DDD; Clayton-Smith J; Briggs TA Eur J Med Genet; 2018 May; 61(5):253-256. PubMed ID: 29288087 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families. Al-Mubarak B; Abouelhoda M; Omar A; AlDhalaan H; Aldosari M; Nester M; Alshamrani HA; El-Kalioby M; Goljan E; Albar R; Subhani S; Tahir A; Asfahani S; Eskandrani A; Almusaiab A; Magrashi A; Shinwari J; Monies D; Al Tassan N Sci Rep; 2017 Jul; 7(1):5679. PubMed ID: 28720891 [TBL] [Abstract][Full Text] [Related]
12. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; ; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C Eur J Hum Genet; 2020 Jun; 28(6):770-782. PubMed ID: 32005960 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Chiu ATG; Pei SLC; Mak CCY; Leung GKC; Yu MHC; Lee SL; Vreeburg M; Pfundt R; van der Burgt I; Kleefstra T; Frederic TM; Nambot S; Faivre L; Bruel AL; Rossi M; Isidor B; Küry S; Cogne B; Besnard T; Willems M; Reijnders MRF; Chung BHY Clin Genet; 2018 Apr; 93(4):880-890. PubMed ID: 29240241 [TBL] [Abstract][Full Text] [Related]
16. Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1. Johnson TB; Mechels K; Anderson RH; Cain JT; Sturdevant DA; Braddock S; Pinz H; Wilson MA; Landsverk M; Roux KJ; Weimer JM Sci Rep; 2018 Nov; 8(1):16161. PubMed ID: 30385778 [TBL] [Abstract][Full Text] [Related]
17. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder. Kim N; Kim KH; Lim WJ; Kim J; Kim SA; Yoo HJ Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33374967 [TBL] [Abstract][Full Text] [Related]
18. Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. Patowary A; Won SY; Oh SJ; Nesbitt RR; Archer M; Nickerson D; Raskind WH; Bernier R; Lee JE; Brkanac Z Transl Psychiatry; 2019 Jan; 9(1):4. PubMed ID: 30664616 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dietary zinc supplementation rescues fear-based learning and synaptic function in the Tbr1 Lee K; Jung Y; Vyas Y; Skelton I; Abraham WC; Hsueh YP; Montgomery JM Mol Autism; 2022 Mar; 13(1):13. PubMed ID: 35303947 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]