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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.
Science (New York, N.Y.)
|
August 19, 2007
Human genome ultraconserved elements are ultraselected
Sol Katzman, Andrew D Kern, Gill Bejerano, et al.
Nature Genetics
|
February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, 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.
Development (Cambridge, England)
|
November 4, 2020
Morphogenesis is transcriptionally coupled to neurogenesis during peripheral olfactory organ development
Raphaël Aguillon, Romain Madelaine, Marion Aguirrebengoa, et al.
Plos One
|
February 2, 2011
Noninvasive monitoring of placenta-specific transgene expression by bioluminescence imaging
Xiujun Fan, Peigen Ren, Sabita Dhal, et al.
Nature Biotechnology
|
May 4, 2010
GREAT improves functional interpretation of cis-regulatory regions
Cory Y McLean, Dave Bristor, Michael Hiller, et al.
Plos Computational Biology
|
April 22, 2006
Identification and classification of conserved RNA secondary structures in the human genome
Jakob Skou Pedersen, Gill Bejerano, Adam Siepel, 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.
Page
of 8
Search research articles
Search
Showing results (41-50 of 74) with videos related to
Sort By:
Page
of 8
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.
Science (New York, N.Y.)
|
August 19, 2007
Human genome ultraconserved elements are ultraselected
Sol Katzman, Andrew D Kern, Gill Bejerano, et al.
Nature Genetics
|
February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing
Karthik A Jagadeesh, Joseph M Paggi, James S Ye, 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.
Development (Cambridge, England)
|
November 4, 2020
Morphogenesis is transcriptionally coupled to neurogenesis during peripheral olfactory organ development
Raphaël Aguillon, Romain Madelaine, Marion Aguirrebengoa, et al.
Plos One
|
February 2, 2011
Noninvasive monitoring of placenta-specific transgene expression by bioluminescence imaging
Xiujun Fan, Peigen Ren, Sabita Dhal, et al.
Nature Biotechnology
|
May 4, 2010
GREAT improves functional interpretation of cis-regulatory regions
Cory Y McLean, Dave Bristor, Michael Hiller, et al.
Plos Computational Biology
|
April 22, 2006
Identification and classification of conserved RNA secondary structures in the human genome
Jakob Skou Pedersen, Gill Bejerano, Adam Siepel, 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.
Page
of 8