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Journal Abstract Search

222 related items for PubMed ID: 35743796

  • 21. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
    Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, CAUSES StudyDepartment of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS, Deciphering Developmental Disorders studyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK., Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.
    Am J Hum Genet; 2019 Mar 07; 104(3):530-541. PubMed ID: 30827496
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  • 23. The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions.
    Cooke J, Molloy CJ, Cáceres ASJ, Dinneen T, Bourgeron T, Murphy D, Gallagher L, Loth E.
    Front Neurosci; 2022 Mar 07; 16():806990. PubMed ID: 35250452
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  • 25. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
    Am J Med Genet A; 2017 Aug 07; 173(8):2132-2138. PubMed ID: 28574232
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  • 29. Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.
    Li S, Xi KW, Liu T, Zhang Y, Zhang M, Zeng LD, Li J.
    BMC Med Genomics; 2020 Oct 06; 13(1):146. PubMed ID: 33023580
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  • 30. Clinical characterization of novel chromosome 22q13 microdeletions.
    Ha JF, Ahmad A, Lesperance MM.
    Int J Pediatr Otorhinolaryngol; 2017 Apr 06; 95():121-126. PubMed ID: 28576520
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  • 32. Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.
    Ceylan AC, Citli S, Erdem HB, Sahin I, Acar Arslan E, Erdogan M.
    Mol Cytogenet; 2018 Apr 06; 11():54. PubMed ID: 30258496
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  • 33. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
    Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD.
    J Child Neurol; 2015 Dec 06; 30(14):1861-70. PubMed ID: 26350728
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  • 36. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
    Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M.
    Mol Autism; 2019 Dec 06; 10():33. PubMed ID: 31406558
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  • 38. Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.
    Hu C, Wang Y, Li C, Mei L, Zhou B, Li D, Li H, Xu Q, Xu X.
    Front Genet; 2023 Dec 06; 14():1083779. PubMed ID: 37007974
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  • 39. The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability.
    Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, Magnusson C, Sandin S, Tabb LP, Newschaffer CJ, Lee BK.
    Autism Res; 2020 Dec 06; 13(12):2242-2250. PubMed ID: 33103358
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