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Philip M Boone

Showing results (11-20 of 42) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Human Mutation|July 30, 2013
Detection of clinically relevant copy number variants with whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2013
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DYuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
CRISPR-engineered deletion of <i>POGZ</i> alters transcription factor binding at promoters of genes involved in synaptic signalingMariana Moyses-Oliveira, Yating Liu, Serkan Erdin, et al.
American Journal of Human Genetics|October 25, 2022
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal modelsKiana Mohajeri, Rachita Yadav, Eva D'haene, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2012
Incidental copy-number variants identified by routine genome testing in a clinical populationPhilip M Boone, Zachry T Soens, Ian M Campbell, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
Human Mutation|July 30, 2013
Detection of clinically relevant copy number variants with whole-exome sequencingJoep de Ligt, Philip M Boone, Rolph Pfundt, et al.
Genome Research|May 21, 2013
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing allelesPhilip M Boone, Ian M Campbell, Brett C Baggett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2013
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DYuji Okamoto, Meryem Tuba Goksungur, Davut Pehlivan, et al.
Molecular Genetics & Genomic Medicine|January 21, 2016
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathPhilip M Boone, Bo Yuan, Shen Gu, et al.
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
CRISPR-engineered deletion of <i>POGZ</i> alters transcription factor binding at promoters of genes involved in synaptic signalingMariana Moyses-Oliveira, Yating Liu, Serkan Erdin, et al.
American Journal of Human Genetics|October 25, 2022
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal modelsKiana Mohajeri, Rachita Yadav, Eva D'haene, et al.
Pageof 5