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Human Mutation
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October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking
Matthew Osmond, E Magda Price, Orion J Buske, et al.
Nature Communications
|
May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren A Cheung, Adam F Johnson, William J Rowell, et al.
Genome Biology
|
May 9, 2019
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A Cheung, Xiaojian Shao, Andréanne Morin, et al.
Genome Biology
|
March 12, 2017
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A Cheung, Xiaojian Shao, Andréanne Morin, et al.
Nature Communications
|
March 21, 2019
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis
Ashot S Harutyunyan, Brian Krug, Haifen Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
Nature Genetics
|
June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
David Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Nature Communications
|
November 30, 2016
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
Dirk S Paul, Andrew E Teschendorff, Mary A N Dang, et al.
Brain : a Journal of Neurology
|
April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy
Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
Human Mutation
|
October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking
Matthew Osmond, E Magda Price, Orion J Buske, et al.
Nature Communications
|
May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Warren A Cheung, Adam F Johnson, William J Rowell, et al.
Genome Biology
|
May 9, 2019
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A Cheung, Xiaojian Shao, Andréanne Morin, et al.
Genome Biology
|
March 12, 2017
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A Cheung, Xiaojian Shao, Andréanne Morin, et al.
Nature Communications
|
March 21, 2019
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis
Ashot S Harutyunyan, Brian Krug, Haifen Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
Nature Genetics
|
June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
David Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.
Nature Communications
|
November 30, 2016
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
Dirk S Paul, Andrew E Teschendorff, Mary A N Dang, et al.
Brain : a Journal of Neurology
|
April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy
Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Page
of 4