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Daniel G MacArthur

Showing results (181-190 of 216) with videos related to

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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.
Nature|September 17, 2013
Transcriptome and genome sequencing uncovers functional variation in humansTuuli Lappalainen, Michael Sammeth, Marc R Friedländer, et al.
Plos Genetics|August 1, 2014
Distribution and medical impact of loss-of-function variants in the Finnish founder populationElaine T Lim, Peter Würtz, Aki S Havulinna, et al.
Plos Genetics|May 26, 2018
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.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
The Journal of Clinical Investigation|February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 22

Showing results (181-190 of 216) with videos related to

Sort By:
Pageof 22
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.
Nature|September 17, 2013
Transcriptome and genome sequencing uncovers functional variation in humansTuuli Lappalainen, Michael Sammeth, Marc R Friedländer, et al.
Plos Genetics|August 1, 2014
Distribution and medical impact of loss-of-function variants in the Finnish founder populationElaine T Lim, Peter Würtz, Aki S Havulinna, et al.
Plos Genetics|May 26, 2018
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.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
The Journal of Clinical Investigation|February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Pageof 22