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Ryan L Collins

Showing results (41-50 of 54) with videos related to

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American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Science Translational Medicine|May 24, 2019
Primary cilia defects causing mitral valve prolapseKatelynn A Toomer, Mengyao Yu, Diana Fulmer, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature Genetics|April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorderDonna M Werling, Harrison Brand, Joon-Yong An, et al.
Cell Genomics|June 30, 2023
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementiasKarri Kaivola, Ruth Chia, Jinhui Ding, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Science Translational Medicine|May 24, 2019
Primary cilia defects causing mitral valve prolapseKatelynn A Toomer, Mengyao Yu, Diana Fulmer, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature Genetics|April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorderDonna M Werling, Harrison Brand, Joon-Yong An, et al.
Cell Genomics|June 30, 2023
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementiasKarri Kaivola, Ruth Chia, Jinhui Ding, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 6