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D Overton

Showing results (81-90 of 242) with videos related to

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American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinomaSiming Zhao, Murim Choi, John D Overton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencingChristopher M Haggerty, Cynthia A James, Hugh Calkins, et al.
Science (New York, N.Y.)|December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care systemNoura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
Cell Reports|October 7, 2014
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorderShan Dong, Michael F Walker, Nicholas J Carriero, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Nature Genetics|June 29, 2021
Advancing human genetics research and drug discovery through exome sequencing of the UK BiobankJoseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, et al.
Nature|April 13, 2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autismStephan J Sanders, Michael T Murtha, Abha R Gupta, et al.
Nature|October 18, 2021
Exome sequencing and analysis of 454,787 UK Biobank participantsJoshua D Backman, Alexander H Li, Anthony Marcketta, 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.
Pageof 25

Showing results (81-90 of 242) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinomaSiming Zhao, Murim Choi, John D Overton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencingChristopher M Haggerty, Cynthia A James, Hugh Calkins, et al.
Science (New York, N.Y.)|December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care systemNoura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
Cell Reports|October 7, 2014
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorderShan Dong, Michael F Walker, Nicholas J Carriero, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Nature Genetics|June 29, 2021
Advancing human genetics research and drug discovery through exome sequencing of the UK BiobankJoseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, et al.
Nature|April 13, 2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autismStephan J Sanders, Michael T Murtha, Abha R Gupta, et al.
Nature|October 18, 2021
Exome sequencing and analysis of 454,787 UK Biobank participantsJoshua D Backman, Alexander H Li, Anthony Marcketta, 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.
Pageof 25