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JAMA
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October 17, 2018
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition
Leslie G Biesecker, Robert L Nussbaum, Heidi L Rehm
Heart (British Cardiac Society)
|
October 13, 2010
Use and interpretation of genetic tests in cardiovascular genetics
Colleen Caleshu, Sharlene Day, Heidi L Rehm, et al.
The Oncologist
|
August 31, 2017
ClinVar Is a Critical Resource to Advance Variant Interpretation
Heidi L Rehm, Steven M Harrison, Christa L Martin
Frontiers in Genetics
|
July 5, 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria
Current Protocols in Human Genetics
|
April 12, 2011
Targeted sequencing using Affymetrix CustomSeq Arrays
Polakit Teekakirikul, Stephanie Cox, Birgit Funke, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy
Amy E Roberts, Britta Hult, Heidi L Rehm, et al.
Human Mutation
|
May 10, 2022
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
Kym M Boycott, Danielle R Azzariti, Ada Hamosh, et al.
Cell Genomics
|
September 18, 2023
Aligning NIH's existing data use restrictions to the GA4GH DUO standard
Jonathan Lawson, Elena M Ghanaim, Jinyoung Baek, et al.
Cold Spring Harbor Molecular Case Studies
|
June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharing
Andrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
BMC Medical Genomics
|
May 7, 2026
Characterizing core outcomes of responsible stewardship for human genomic data in the cloud
Vasiliki Rahimzadeh, Bronwyn Walsh, Heidi L Rehm, et al.
Page
of 35
Search research articles
Search
Showing results (31-40 of 342) with videos related to
Sort By:
Page
of 35
JAMA
|
October 17, 2018
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition
Leslie G Biesecker, Robert L Nussbaum, Heidi L Rehm
Heart (British Cardiac Society)
|
October 13, 2010
Use and interpretation of genetic tests in cardiovascular genetics
Colleen Caleshu, Sharlene Day, Heidi L Rehm, et al.
The Oncologist
|
August 31, 2017
ClinVar Is a Critical Resource to Advance Variant Interpretation
Heidi L Rehm, Steven M Harrison, Christa L Martin
Frontiers in Genetics
|
July 5, 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria
Current Protocols in Human Genetics
|
April 12, 2011
Targeted sequencing using Affymetrix CustomSeq Arrays
Polakit Teekakirikul, Stephanie Cox, Birgit Funke, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy
Amy E Roberts, Britta Hult, Heidi L Rehm, et al.
Human Mutation
|
May 10, 2022
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
Kym M Boycott, Danielle R Azzariti, Ada Hamosh, et al.
Cell Genomics
|
September 18, 2023
Aligning NIH's existing data use restrictions to the GA4GH DUO standard
Jonathan Lawson, Elena M Ghanaim, Jinyoung Baek, et al.
Cold Spring Harbor Molecular Case Studies
|
June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharing
Andrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
BMC Medical Genomics
|
May 7, 2026
Characterizing core outcomes of responsible stewardship for human genomic data in the cloud
Vasiliki Rahimzadeh, Bronwyn Walsh, Heidi L Rehm, et al.
Page
of 35