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Daniel G MacArthur

Showing results (151-160 of 216) with videos related to

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Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, 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.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Communications|October 18, 2018
Phenome-wide association studies across large population cohorts support drug target validationDorothée Diogo, Chao Tian, Christopher S Franklin, et al.
Nature|May 24, 2013
Negligible impact of rare autoimmune-locus coding-region variants on missing heritabilityKaren A Hunt, Vanisha Mistry, Nicholas A Bockett, 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 22

Showing results (151-160 of 216) with videos related to

Sort By:
Pageof 22
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, 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.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.
Nature Communications|October 18, 2018
Phenome-wide association studies across large population cohorts support drug target validationDorothée Diogo, Chao Tian, Christopher S Franklin, et al.
Nature|May 24, 2013
Negligible impact of rare autoimmune-locus coding-region variants on missing heritabilityKaren A Hunt, Vanisha Mistry, Nicholas A Bockett, 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 22