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Kyle Retterer

Showing results (11-20 of 59) with videos related to

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American Journal of Human Genetics|December 2, 2019
Sex-Based Analysis of De Novo Variants in Neurodevelopmental DisordersTychele N Turner, Amy B Wilfert, Trygve E Bakken, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic featuresGanka Douglas, Megan T Cho, Aida Telegrafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Hereditary Cancer in Clinical Practice|July 26, 2019
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controlsKevin J Arvai, Maegan E Roberts, Rebecca I Torene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2020
Mobile element insertion detection in 89,874 clinical exomesRebecca I Torene, Kevin Galens, Shuxi Liu, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 21, 2025
Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation BurdenMeghan Anderson, Defne Ercelen, Ashley Richardson, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
Pageof 6

Showing results (11-20 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|December 2, 2019
Sex-Based Analysis of De Novo Variants in Neurodevelopmental DisordersTychele N Turner, Amy B Wilfert, Trygve E Bakken, et al.
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic featuresGanka Douglas, Megan T Cho, Aida Telegrafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Hereditary Cancer in Clinical Practice|July 26, 2019
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controlsKevin J Arvai, Maegan E Roberts, Rebecca I Torene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2020
Mobile element insertion detection in 89,874 clinical exomesRebecca I Torene, Kevin Galens, Shuxi Liu, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 21, 2025
Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation BurdenMeghan Anderson, Defne Ercelen, Ashley Richardson, et al.
Neurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
Pageof 6