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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 13, 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Karthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, et al.
Plos Genetics
|
September 7, 2013
The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option
Aaron M Wenger, Shoa L Clarke, James H Notwell, et al.
European Journal of Human Genetics : EJHG
|
August 9, 2018
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, et al.
Nature Biotechnology
|
May 4, 2010
GREAT improves functional interpretation of cis-regulatory regions
Cory Y McLean, Dave Bristor, Michael Hiller, et al.
Nature Genetics
|
November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
Johannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, et al.
Human Mutation
|
April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Tobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.
Genome Research
|
June 26, 2014
Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape
J Gray Camp, Christopher L Frank, Colin R Lickwar, et al.
Scientific Data
|
June 16, 2019
High-coverage, long-read sequencing of Han Chinese trio reference samples
Ying-Chih Wang, Nathan D Olson, Gintaras Deikus, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
April 2, 2011
Control of pelvic girdle development by genes of the Pbx family and Emx2
Terence D Capellini, Karen Handschuh, Laura Quintana, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 13, 2018
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Karthik A Jagadeesh, Johannes Birgmeier, Harendra Guturu, et al.
Plos Genetics
|
September 7, 2013
The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option
Aaron M Wenger, Shoa L Clarke, James H Notwell, et al.
European Journal of Human Genetics : EJHG
|
August 9, 2018
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, et al.
Nature Biotechnology
|
May 4, 2010
GREAT improves functional interpretation of cis-regulatory regions
Cory Y McLean, Dave Bristor, Michael Hiller, et al.
Nature Genetics
|
November 8, 2016
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2018
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
Johannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, et al.
Human Mutation
|
April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Tobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.
Genome Research
|
June 26, 2014
Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape
J Gray Camp, Christopher L Frank, Colin R Lickwar, et al.
Scientific Data
|
June 16, 2019
High-coverage, long-read sequencing of Han Chinese trio reference samples
Ying-Chih Wang, Nathan D Olson, Gintaras Deikus, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
April 2, 2011
Control of pelvic girdle development by genes of the Pbx family and Emx2
Terence D Capellini, Karen Handschuh, Laura Quintana, et al.
Page
of 5