Joseph D. Buxbaum

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

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Publications

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Pavinato L, Stanic J, Barzasi M, et al. (2023) Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100922
Rots D, Jakub TE, Keung C, et al. (2023) The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American Journal of Human Genetics
Grandjean J, Desrosiers-Gregoire G, Anckaerts C, et al. (2023) Author Correction: A consensus protocol for functional connectivity analysis in the rat brain. Nature Neuroscience
Grandjean J, Desrosiers-Gregoire G, Anckaerts C, et al. (2023) A consensus protocol for functional connectivity analysis in the rat brain. Nature Neuroscience
Giovenino C, Trajkova S, Pavinato L, et al. (2023) Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European Journal of Human Genetics : Ejhg
Fu JM, Satterstrom FK, Peng M, et al. (2022) Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics
Pavinato L, Delle Vedove A, Carli D, et al. (2022) CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a Journal of Neurology
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
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