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Christa L Martin

Showing results (61-70 of 68) with videos related to

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Nature Medicine|September 25, 2019
A framework for the investigation of rare genetic disorders in neuropsychiatryStephan J Sanders, Mustafa Sahin, Joseph Hostyk, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilitiesErin B Kaminsky, Vineith Kaul, Justin Paschall, et al.
American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Nature Genetics|August 13, 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs, S Hong Lee, Stephan Ripke, et al.
Pageof 7

Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Nature Medicine|September 25, 2019
A framework for the investigation of rare genetic disorders in neuropsychiatryStephan J Sanders, Mustafa Sahin, Joseph Hostyk, et al.
Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilitiesErin B Kaminsky, Vineith Kaul, Justin Paschall, et al.
American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Nature Genetics|August 13, 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs, S Hong Lee, Stephan Ripke, et al.
Pageof 7