Joseph D. Buxbaum

Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Alzheimer's Disease, Autism, Schizophrenia
"Joseph Buxbaum"
Mean distance: 12.96 (cluster 11)
Cross-listing: Alzheimer's Tree

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Brea-Fernández AJ, Álvarez-Barona M, Amigo J, et al. (2022) Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability. European Journal of Human Genetics : Ejhg
Mahjani B, De Rubeis S, Gustavsson Mahjani C, et al. (2021) Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Molecular Autism. 12: 65
Klei L, McClain LL, Mahjani B, et al. (2021) How rare and common risk variation jointly affect liability for autism spectrum disorder. Molecular Autism. 12: 66
Boitnott A, Garcia-Forn M, Ung DC, et al. (2021) Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome. Biological Psychiatry
Pavinato L, Nematian-Ardestani E, Zonta A, et al. (2021) Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. International Journal of Molecular Sciences. 22
Tang L, Levy T, Guillory S, et al. (2021) Prospective and detailed behavioral phenotyping in DDX3X syndrome. Molecular Autism. 12: 36
Pavinato L, Trajkova S, Grosso E, et al. (2021) Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. American Journal of Medical Genetics. Part A
Siper PM, Layton C, Levy T, et al. (2021) Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis. Genes. 12
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, et al. (2020) Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. Journal of Medical Genetics
Breen MS, Garg P, Tang L, et al. (2020) Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. American Journal of Human Genetics
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