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Jeffrey Staples

Showing results (11-20 of 25) with videos related to

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Scientific Reports|March 11, 2021
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's DiseaseJulie E Horowitz, Neil Warner, Jeffrey Staples, et al.
Diabetes|December 15, 2019
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care CohortClaudia Gonzaga-Jauregui, Wenzhen Ge, Jeffrey Staples, et al.
Genetic Epidemiology|June 29, 2021
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individualsChuan Gao, Anthony Marcketta, Joshua D Backman, et al.
European Journal of Neurology|December 22, 2021
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemiaLiat Salzer-Sheelo, Avi Fellner, Naama Orenstein, et al.
Communications Biology|June 6, 2022
Population-scale analysis of common and rare genetic variation associated with hearing loss in adultsKavita Praveen, Lee Dobbyn, Lauren Gurski, et al.
American Journal of Human Genetics|May 5, 2018
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesJeffrey Staples, Evan K Maxwell, Nehal Gosalia, et al.
European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Biorxiv : the Preprint Server for Biology|May 22, 2023
A deep catalog of protein-coding variation in 985,830 individualsKathie Y Sun, Xiaodong Bai, Siying Chen, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in miceBradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Nature|January 8, 2025
Author Correction: A deep catalogue of protein-coding variation in 983,578 individualsKathie Y Sun, Xiaodong Bai, Siying Chen, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Scientific Reports|March 11, 2021
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's DiseaseJulie E Horowitz, Neil Warner, Jeffrey Staples, et al.
Diabetes|December 15, 2019
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care CohortClaudia Gonzaga-Jauregui, Wenzhen Ge, Jeffrey Staples, et al.
Genetic Epidemiology|June 29, 2021
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individualsChuan Gao, Anthony Marcketta, Joshua D Backman, et al.
European Journal of Neurology|December 22, 2021
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemiaLiat Salzer-Sheelo, Avi Fellner, Naama Orenstein, et al.
Communications Biology|June 6, 2022
Population-scale analysis of common and rare genetic variation associated with hearing loss in adultsKavita Praveen, Lee Dobbyn, Lauren Gurski, et al.
American Journal of Human Genetics|May 5, 2018
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesJeffrey Staples, Evan K Maxwell, Nehal Gosalia, et al.
European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Biorxiv : the Preprint Server for Biology|May 22, 2023
A deep catalog of protein-coding variation in 985,830 individualsKathie Y Sun, Xiaodong Bai, Siying Chen, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in miceBradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Nature|January 8, 2025
Author Correction: A deep catalogue of protein-coding variation in 983,578 individualsKathie Y Sun, Xiaodong Bai, Siying Chen, et al.
Pageof 3