Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Michael E Talkowski

Showing results (101-110 of 184) with videos related to

Pageof 19
Sort By:
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
Molecular Psychiatry|August 29, 2024
An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor functionMaltesh Kambali, Yan Li, Petr Unichenko, et al.
American Journal of Human Genetics|March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesXuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
JCI Insight|September 4, 2020
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide productionHelen Chen, A Kaitlyn Victor, Jonathon Klein, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 22, 2008
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samplesMichael E Talkowski, Lora McClain, Trina Allen, et al.
Genome Research|May 15, 2024
A harmonized public resource of deeply sequenced diverse human genomesZan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 20, 2010
Fine-mapping reveals novel alternative splicing of the dopamine transporterMichael E Talkowski, Kathleen L McCann, Michael Chen, et al.
Cell Genomics|February 13, 2023
The female protective effect against autism spectrum disorderEmilie M Wigdor, Daniel J Weiner, Jakob Grove, et al.
American Journal of Human Genetics|September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal modelsDerek J C Tai, Parisa Razaz, Serkan Erdin, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Large-scale discovery of neural enhancers for cis-regulation therapiesTroy A McDiarmid, Nicholas F Page, Florence M Chardon, et al.
Pageof 19

Showing results (101-110 of 184) with videos related to

Sort By:
Pageof 19
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
Molecular Psychiatry|August 29, 2024
An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor functionMaltesh Kambali, Yan Li, Petr Unichenko, et al.
American Journal of Human Genetics|March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesXuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
JCI Insight|September 4, 2020
Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide productionHelen Chen, A Kaitlyn Victor, Jonathon Klein, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 22, 2008
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samplesMichael E Talkowski, Lora McClain, Trina Allen, et al.
Genome Research|May 15, 2024
A harmonized public resource of deeply sequenced diverse human genomesZan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 20, 2010
Fine-mapping reveals novel alternative splicing of the dopamine transporterMichael E Talkowski, Kathleen L McCann, Michael Chen, et al.
Cell Genomics|February 13, 2023
The female protective effect against autism spectrum disorderEmilie M Wigdor, Daniel J Weiner, Jakob Grove, et al.
American Journal of Human Genetics|September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal modelsDerek J C Tai, Parisa Razaz, Serkan Erdin, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Large-scale discovery of neural enhancers for cis-regulation therapiesTroy A McDiarmid, Nicholas F Page, Florence M Chardon, et al.
Pageof 19