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P Coe

Showing results (171-180 of 218) with videos related to

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Nature Communications|October 7, 2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variantsJayne Y Hehir-Kwa, Tobias Marschall, Wigard P Kloosterman, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Genome Research|April 18, 2015
Characteristics of de novo structural changes in the human genomeWigard P Kloosterman, Laurent C Francioli, Fereydoun Hormozdiari, et al.
Nature Communications|January 16, 2020
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associationsYun Rose Li, Joseph T Glessner, Bradley P Coe, et al.
Molecular Autism|December 20, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial modelHui Guo, Tianyun Wang, Huidan Wu, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
The New England Journal of Medicine|September 14, 2012
Phenotypic heterogeneity of genomic disorders and rare copy-number variantsSanthosh Girirajan, Jill A Rosenfeld, Bradley P Coe, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Pageof 22

Showing results (171-180 of 218) with videos related to

Sort By:
Pageof 22
Nature Communications|October 7, 2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variantsJayne Y Hehir-Kwa, Tobias Marschall, Wigard P Kloosterman, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Genome Research|April 18, 2015
Characteristics of de novo structural changes in the human genomeWigard P Kloosterman, Laurent C Francioli, Fereydoun Hormozdiari, et al.
Nature Communications|January 16, 2020
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associationsYun Rose Li, Joseph T Glessner, Bradley P Coe, et al.
Molecular Autism|December 20, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial modelHui Guo, Tianyun Wang, Huidan Wu, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
The New England Journal of Medicine|September 14, 2012
Phenotypic heterogeneity of genomic disorders and rare copy-number variantsSanthosh Girirajan, Jill A Rosenfeld, Bradley P Coe, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Pageof 22