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Journal Abstract Search

583 related items for PubMed ID: 30670789

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  • 23. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA.
    Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
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  • 24. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
    Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M.
    Hum Mutat; 2020 May; 41(5):1042-1050. PubMed ID: 32097528
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  • 25. Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
    Wang J, Liu J, Gao Y, Wang K, Jiang K.
    BMC Pediatr; 2018 Oct 30; 18(1):338. PubMed ID: 30376831
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  • 26. CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.
    Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya AÇ, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G, Novarino G.
    Cell Rep; 2022 Apr 05; 39(1):110615. PubMed ID: 35385734
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  • 34. Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
    Neuhaus E, Rea H, Jones E, Benavidez H, Miles C, Whiting A, Johansson M, Eayrs C, Kurtz-Nelson EC, Earl R, Bernier RA, Eichler EE.
    J Neurodev Disord; 2024 Apr 15; 16(1):15. PubMed ID: 38622540
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  • 35. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
    Merner N, Forgeot d'Arc B, Bell SC, Maussion G, Peng H, Gauthier J, Crapper L, Hamdan FF, Michaud JL, Mottron L, Rouleau GA, Ernst C.
    Am J Med Genet A; 2016 May 15; 170A(5):1225-35. PubMed ID: 26789910
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  • 36. Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
    Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M, Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel.
    Genes (Basel); 2024 Mar 28; 15(4):. PubMed ID: 38674358
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  • 40. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
    Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T.
    J Hum Genet; 2020 Jan 28; 65(2):181-186. PubMed ID: 31645653
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