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Anne H O'Donnell-Luria

Showing results (1-10 of 34) with videos related to

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Human Genetics|April 30, 2016
A Clinician's perspective on clinical exome sequencingAnne H O'Donnell-Luria, David T Miller
Current Opinion in Endocrinology, Diabetes, and Obesity|December 18, 2014
Turner syndrome: update on biology and management across the life spanLynne L Levitsky, Anne H O'Donnell Luria, Frances J Hayes, et al.
Wellcome Open Research|June 21, 2017
ClinVar data parsingXiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
American Journal of Human Genetics|October 15, 2019
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General PopulationPriyanka Nakka, Samuel Pattillo Smith, Anne H O'Donnell-Luria, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2024
Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and diseaseKatherine Fleck, Victor Luria, Nitanta Garag, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Human Genetics|April 30, 2016
A Clinician's perspective on clinical exome sequencingAnne H O'Donnell-Luria, David T Miller
Current Opinion in Endocrinology, Diabetes, and Obesity|December 18, 2014
Turner syndrome: update on biology and management across the life spanLynne L Levitsky, Anne H O'Donnell Luria, Frances J Hayes, et al.
Wellcome Open Research|June 21, 2017
ClinVar data parsingXiaolei Zhang, Eric V Minikel, Anne H O'Donnell-Luria, et al.
American Journal of Human Genetics|October 15, 2019
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General PopulationPriyanka Nakka, Samuel Pattillo Smith, Anne H O'Donnell-Luria, et al.
Biorxiv : the Preprint Server for Biology|April 1, 2024
Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and diseaseKatherine Fleck, Victor Luria, Nitanta Garag, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
Pageof 4