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.
773 related articles for article (PubMed ID: 32152250)
21. Is MED13L-related intellectual disability a recognizable syndrome? Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045 [TBL] [Abstract][Full Text] [Related]
22. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Furia F; Levy AM; Theunis M; Bamshad MJ; Bartos MN; Bijlsma EK; Brancati F; Cejudo L; Chong JX; De Luca C; Dean SJ; Egense A; Goel H; Guenzel AJ; Hüffmeier U; Legius E; Mancini GMS; Marcos-Alcalde I; Niclass T; Planes M; Redon S; Ros-Pardo D; Rouault K; Schot R; Schuhmann S; Shen JJ; Tao AM; Thiffault I; Van Esch H; Wentzensen IM; Barakat TS; Møller RS; Gomez-Puertas P; Chung WK; Gardella E; Tümer Z Clin Genet; 2024 Nov; 106(5):574-584. PubMed ID: 38988293 [TBL] [Abstract][Full Text] [Related]
23. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. Gonzalez-Mantilla AJ; Moreno-De-Luca A; Ledbetter DH; Martin CL JAMA Psychiatry; 2016 Mar; 73(3):275-83. PubMed ID: 26817790 [TBL] [Abstract][Full Text] [Related]
24. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859 [TBL] [Abstract][Full Text] [Related]
25. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Rosenfeld JA; Xiao R; Bekheirnia MR; Kanani F; Parker MJ; Koenig MK; van Haeringen A; Ruivenkamp C; Rosmaninho-Salgado J; Almeida PM; Sá J; Pinto Basto J; Palen E; Oetjens KF; Burrage LC; Xia F; Liu P; Eng CM; ; Yang Y; Posey JE; Lee BH Am J Med Genet A; 2021 Jul; 185(7):2037-2045. PubMed ID: 33847457 [TBL] [Abstract][Full Text] [Related]
26. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features. Imagawa E; Konuma T; Cork EE; Diaz GA; Oishi K Clin Genet; 2020 Dec; 98(6):606-612. PubMed ID: 32812661 [TBL] [Abstract][Full Text] [Related]
27. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862 [TBL] [Abstract][Full Text] [Related]
28. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism. Wiltrout K; Brimble E; Poduri A Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175 [TBL] [Abstract][Full Text] [Related]
30. Novel mutation identified in Pan M; Li H; Pan L; Sun R J Int Med Res; 2024 Aug; 52(8):3000605241272533. PubMed ID: 39216073 [TBL] [Abstract][Full Text] [Related]
31. Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome. Blanc A; Bonnet C; Wandzel M; Roth V; Duffourd Y; Safraou H; Leheup B; Muller F; D Colne J; Feillet F; Schmitt E; Castro M; Savatt J; Burcheri A; Nemos C; Philippe C; Lambert L Am J Med Genet A; 2024 Sep; 194(9):e63642. PubMed ID: 38711237 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Shinawi M; Sahoo T; Maranda B; Skinner SA; Skinner C; Chinault C; Zascavage R; Peters SU; Patel A; Stevenson RE; Beaudet AL Am J Med Genet A; 2011 Jun; 155A(6):1272-80. PubMed ID: 21567907 [TBL] [Abstract][Full Text] [Related]
35. Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability. Miao C; Du L; Zhang Y; Jia F; Shan L Clin Genet; 2023 Mar; 103(3):364-368. PubMed ID: 36444493 [TBL] [Abstract][Full Text] [Related]
36. 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]
38. QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Föhrenbach M; Jamra RA; Borkhardt A; Brozou T; Muschke P; Popp B; Rey LK; Schaper J; Surowy H; Zenker M; Zweier C; Wieczorek D; Redler S Clin Genet; 2021 Jan; 99(1):199-207. PubMed ID: 33009816 [TBL] [Abstract][Full Text] [Related]
39. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. Yuan H; Wang Q; Liu Y; Yang W; He Y; Gusella JF; Song J; Shen Y Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):589-595. PubMed ID: 30076746 [TBL] [Abstract][Full Text] [Related]
40. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. Diets IJ; van der Donk R; Baltrunaite K; Waanders E; Reijnders MRF; Dingemans AJM; Pfundt R; Vulto-van Silfhout AT; Wiel L; Gilissen C; Thevenon J; Perrin L; Afenjar A; Nava C; Keren B; Bartz S; Peri B; Beunders G; Verbeek N; van Gassen K; Thiffault I; Cadieux-Dion M; Huerta-Saenz L; Wagner M; Konstantopoulou V; Vodopiutz J; Griese M; Boel A; Callewaert B; Brunner HG; Kleefstra T; Hoogerbrugge N; de Vries BBA; Hwa V; Dauber A; Hehir-Kwa JY; Kuiper RP; Jongmans MCJ Am J Hum Genet; 2019 Apr; 104(4):758-766. PubMed ID: 30929739 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]