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G Biesecker

Showing results (281-290 of 475) with videos related to

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Journal of Genetic Counseling|April 20, 2021
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohortPriscilla A Chan, Katie L Lewis, Barbara B Biesecker, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Journal of the American Academy of Dermatology|October 19, 2017
Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndromeNeera R Nathan, Rachna Patel, Molly M Crenshaw, et al.
American Journal of Human Genetics|April 22, 2021
Engagement and return of results preferences among a primarily African American genomic sequencing research cohortKatie L Lewis, Erin Turbitt, Priscilla A Chan, et al.
Anesthesiology|November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutationsStephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
American Journal of Human Genetics|June 19, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, et al.
American Journal of Medical Genetics. Part A|April 20, 2022
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papillomaEmily W Modlin, Anne M Slavotinek, Thomas N Darling, et al.
Journal of Behavioral Medicine|May 25, 2015
Perceived ambiguity as a barrier to intentions to learn genome sequencing resultsJennifer M Taber, William M P Klein, Rebecca A Ferrer, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
European Journal of Human Genetics : EJHG|February 25, 2018
Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudesErin Turbitt, Megan C Roberts, Rebecca A Ferrer, et al.
Pageof 48

Showing results (281-290 of 475) with videos related to

Sort By:
Pageof 48
Journal of Genetic Counseling|April 20, 2021
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohortPriscilla A Chan, Katie L Lewis, Barbara B Biesecker, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Journal of the American Academy of Dermatology|October 19, 2017
Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndromeNeera R Nathan, Rachna Patel, Molly M Crenshaw, et al.
American Journal of Human Genetics|April 22, 2021
Engagement and return of results preferences among a primarily African American genomic sequencing research cohortKatie L Lewis, Erin Turbitt, Priscilla A Chan, et al.
Anesthesiology|November 8, 2013
Using exome data to identify malignant hyperthermia susceptibility mutationsStephen G Gonsalves, David Ng, Jennifer J Johnston, et al.
American Journal of Human Genetics|June 19, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, et al.
American Journal of Medical Genetics. Part A|April 20, 2022
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papillomaEmily W Modlin, Anne M Slavotinek, Thomas N Darling, et al.
Journal of Behavioral Medicine|May 25, 2015
Perceived ambiguity as a barrier to intentions to learn genome sequencing resultsJennifer M Taber, William M P Klein, Rebecca A Ferrer, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
European Journal of Human Genetics : EJHG|February 25, 2018
Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudesErin Turbitt, Megan C Roberts, Rebecca A Ferrer, et al.
Pageof 48