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Joseph D Buxbaum

Showing results (281-290 of 361) with videos related to

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Journal of Medical Genetics|December 16, 2020
Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesisLisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.
Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.
Nature Neuroscience|August 7, 2012
HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activityMitsumasa Kurita, Terrell Holloway, Aintzane García-Bea, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Nature Genetics|August 4, 2014
A framework for the interpretation of de novo mutation in human diseaseKaitlin E Samocha, Elise B Robinson, Stephan J Sanders, et al.
Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
Scientific Data|September 12, 2018
The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's diseaseMinghui Wang, Noam D Beckmann, Panos Roussos, et al.
Plos Genetics|May 31, 2014
Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorderEsther R Berko, Masako Suzuki, Faygel Beren, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 22, 2010
Strong synaptic transmission impact by copy number variations in schizophreniaJoseph T Glessner, Muredach P Reilly, Cecilia E Kim, et al.
Nature Neuroscience|July 16, 2020
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Pageof 37

Showing results (281-290 of 361) with videos related to

Sort By:
Pageof 37
Journal of Medical Genetics|December 16, 2020
Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesisLisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.
Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.
Nature Neuroscience|August 7, 2012
HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activityMitsumasa Kurita, Terrell Holloway, Aintzane García-Bea, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Nature Genetics|August 4, 2014
A framework for the interpretation of de novo mutation in human diseaseKaitlin E Samocha, Elise B Robinson, Stephan J Sanders, et al.
Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
Scientific Data|September 12, 2018
The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's diseaseMinghui Wang, Noam D Beckmann, Panos Roussos, et al.
Plos Genetics|May 31, 2014
Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorderEsther R Berko, Masako Suzuki, Faygel Beren, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 22, 2010
Strong synaptic transmission impact by copy number variations in schizophreniaJoseph T Glessner, Muredach P Reilly, Cecilia E Kim, et al.
Nature Neuroscience|July 16, 2020
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Pageof 37