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Christopher A Cassa

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JAMA Network Open|April 30, 2020
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family HistoryAniruddh P Patel, Minxian Wang, Akl C Fahed, et al.
Nature Communications|August 22, 2020
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditionsAkl C Fahed, Minxian Wang, Julian R Homburger, et al.
Cell Genomics|May 25, 2023
Systematic elucidation of genetic mechanisms underlying cholesterol uptakeMarisa C Hamilton, James D Fife, Ersin Akinci, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Systematic elucidation of genetic mechanisms underlying cholesterol uptakeMarisa C Hamilton, James D Fife, Ersin Akinci, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2020
Elucidation of remdesivir cytotoxicity pathways through genome-wide CRISPR-Cas9 screening and transcriptomicsErsin Akinci, Minsun Cha, Lin Lin, et al.
Nature Genetics|August 14, 2019
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancerSahar Nissim, Ignaty Leshchiner, Joseph D Mancias, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
Journal of Crohn'S & Colitis|April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
JAMA Network Open|April 30, 2020
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family HistoryAniruddh P Patel, Minxian Wang, Akl C Fahed, et al.
Nature Communications|August 22, 2020
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditionsAkl C Fahed, Minxian Wang, Julian R Homburger, et al.
Cell Genomics|May 25, 2023
Systematic elucidation of genetic mechanisms underlying cholesterol uptakeMarisa C Hamilton, James D Fife, Ersin Akinci, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Systematic elucidation of genetic mechanisms underlying cholesterol uptakeMarisa C Hamilton, James D Fife, Ersin Akinci, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2020
Elucidation of remdesivir cytotoxicity pathways through genome-wide CRISPR-Cas9 screening and transcriptomicsErsin Akinci, Minsun Cha, Lin Lin, et al.
Nature Genetics|August 14, 2019
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancerSahar Nissim, Ignaty Leshchiner, Joseph D Mancias, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
Journal of Crohn'S & Colitis|April 23, 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationJodie Ouahed, Judith R Kelsen, Waldo A Spessott, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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