Joseph D. Buxbaum
Affiliations: | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
Area:
Alzheimer's Disease, Autism, SchizophreniaGoogle:
"Joseph Buxbaum"Cross-listing: Neurotree
Parents
Sign in to add mentorYadin Dudai | grad student | 1983-1987 | Weizmann Institute (Neurotree) |
Paul Greengard | post-doc | Rockefeller |
Children
Sign in to add traineeShasta L. Sabo | grad student | Rockefeller (Neurotree) | |
Christina Lilliehook | grad student | 2002 | Mount Sinai School of Medicine (Neurotree) |
Yuji Kajiwara | grad student | 2009 | Mount Sinai School of Medicine |
Rhonda Charles | grad student | 2013 | Mount Sinai School of Medicine (Neurotree) |
Silvia De Rubeis | post-doc | 2013- | Mount Sinai School of Medicine (Neurotree) |
Nikolaos P. Daskalakis | post-doc | 2012-2014 | Mount Sinai School of Medicine (Neurotree) |
Collaborators
Sign in to add collaboratorKatie Kuangfu Hsiao | collaborator | Mount Sinai School of Medicine (Neurotree) |
BETA: Related publications
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Publications
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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 |