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Alison J Coffey

Showing results (31-40 of 39) with videos related to

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Nature Communications|January 24, 2015
Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampusMichael R Johnson, Jacques Behmoaras, Leonardo Bottolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
Nature|April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nick Craddock, Matthew E Hurles, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Nature Communications|January 24, 2015
Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampusMichael R Johnson, Jacques Behmoaras, Leonardo Bottolo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesMarina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
Nature|April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nick Craddock, Matthew E Hurles, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
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