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J Karczewski

Showing results (121-130 of 144) with videos related to

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Cell|March 20, 2012
Personal omics profiling reveals dynamic molecular and medical phenotypesRui Chen, George I Mias, Jennifer Li-Pook-Than, et al.
Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Nature|April 14, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinityDanish Saleheen, Pradeep Natarajan, Irina M Armean, et al.
American Journal of Human Genetics|June 5, 2018
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic SpectrumAndrea Ganna, F Kyle Satterstrom, Seyedeh M Zekavat, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Pageof 15

Showing results (121-130 of 144) with videos related to

Sort By:
Pageof 15
Cell|March 20, 2012
Personal omics profiling reveals dynamic molecular and medical phenotypesRui Chen, George I Mias, Jennifer Li-Pook-Than, et al.
Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Nature|April 14, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinityDanish Saleheen, Pradeep Natarajan, Irina M Armean, et al.
American Journal of Human Genetics|June 5, 2018
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic SpectrumAndrea Ganna, F Kyle Satterstrom, Seyedeh M Zekavat, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Pageof 15