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J Karczewski

Showing results (111-120 of 144) with videos related to

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American Journal of Human Genetics|May 1, 2018
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in FinlandAlicia R Martin, Konrad J Karczewski, Sini Kerminen, et al.
Nature Genetics|September 18, 2025
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effectsKonrad J Karczewski, Rahul Gupta, Masahiro Kanai, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Biorxiv : the Preprint Server for Biology|December 3, 2025
The <i>9p21.3</i> Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of <i>MTAP</i>Timothy N Audam, Benjamin Schmandt, Yi Huang, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Science (New York, N.Y.)|March 5, 2016
Health and population effects of rare gene knockouts in adult humans with related parentsVagheesh M Narasimhan, Karen A Hunt, Dan Mason, et al.
Plos Genetics|September 22, 2011
Phased whole-genome genetic risk in a family quartet using a major allele reference sequenceFrederick E Dewey, Rong Chen, Sergio P Cordero, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 15, 2025
Childhood Cancer Predisposition and Evolutionary Constraints: Novel lessons from Germline Genomes from 1,127 Children with CancerUlrik Kristoffer Stoltze, Thomas van Overeem Hansen, Jon Foss-Skiftesvik, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Pageof 15

Showing results (111-120 of 144) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|May 1, 2018
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in FinlandAlicia R Martin, Konrad J Karczewski, Sini Kerminen, et al.
Nature Genetics|September 18, 2025
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effectsKonrad J Karczewski, Rahul Gupta, Masahiro Kanai, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Biorxiv : the Preprint Server for Biology|December 3, 2025
The <i>9p21.3</i> Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of <i>MTAP</i>Timothy N Audam, Benjamin Schmandt, Yi Huang, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Science (New York, N.Y.)|March 5, 2016
Health and population effects of rare gene knockouts in adult humans with related parentsVagheesh M Narasimhan, Karen A Hunt, Dan Mason, et al.
Plos Genetics|September 22, 2011
Phased whole-genome genetic risk in a family quartet using a major allele reference sequenceFrederick E Dewey, Rong Chen, Sergio P Cordero, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 15, 2025
Childhood Cancer Predisposition and Evolutionary Constraints: Novel lessons from Germline Genomes from 1,127 Children with CancerUlrik Kristoffer Stoltze, Thomas van Overeem Hansen, Jon Foss-Skiftesvik, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Pageof 15