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Keyword

CHD7

Description: A human protein-coding gene that encodes a chromatin-remodeling protein involved in regulating gene expression and development.
Wikidata ID: wiki/Q15311448
OpenAlex ID: keywords/chd7
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
2004 · Lisenka E L M Vissers, Conny M A van Ravenswaaij, et al. · Nature Genetics · 1,286
A small-cell lung cancer genome with complex signatures of tobacco exposure
2009 · Erin D. Pleasance, Philip J. Stephens, et al. · Nature · 1,066
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
2013 · Yong-hui Jiang, Ryan K.C. Yuen, et al. · The American Journal of Human Genetics · 474
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
2005 · M C J Jongmans, R J Admiraal, et al. · Journal of Medical Genetics · 465
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Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
2005 · C Shaw-Smith · Journal of Medical Genetics · 351
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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
2008 · Hyung-Goo Kim, Ingo Kurth, et al. · The American Journal of Human Genetics · 336
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CHARGE syndrome: an update
2007 · Damien Sanlaville, Alain Verloes · European Journal of Human Genetics · 334
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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
2010 · Gabriel E. Zentner, Wanda S. Layman, et al. · American Journal of Medical Genetics Part A · 314
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Mutation update on the CHD7 gene involved in CHARGE syndrome
2012 · Nicole Janssen, Jorieke E. H. Bergman, et al. · Human Mutation · 262
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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
2011 · Erik Engelen, Umut Akinci, et al. · Nature Genetics · 255
CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell-Specific Gene Expression
2010 · Michael P. Schnetz, Lusy Handoko, et al. · PLoS Genetics · 255
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Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns
2009 · Michael P. Schnetz, Cynthia F. Bartels, et al. · Genome Research · 245
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
2005 · D Sanlaville, H C Etchevers, et al. · Journal of Medical Genetics · 241
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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome
2005 · Erika A. Bosman, Andrew C. Penn, et al. · Human Molecular Genetics · 223
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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
2015 · Roula Ghaoui, Sandra T. Cooper, et al. · JAMA Neurology · 207
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
2017 · Darci T. Butcher, Cheryl Cytrynbaum, et al. · The American Journal of Human Genetics · 199
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
2012 · Michael E. Talkowski, Zehra Ordulu, et al. · New England Journal of Medicine · 196
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CHARGE syndrome: A review
2014 · Peter Hsu, Alan Ma, et al. · Journal of Paediatrics and Child Health · 193
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
2011 · Eeva-Maria Laitinen, Kirsi Vaaralahti, et al. · Orphanet Journal of Rare Diseases · 192
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Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination
2016 · Danyang He, Corentine Marie, et al. · Nature Neuroscience · 184
Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
2013 · Flavia Amanda Costa-Barbosa, Ravikumar Balasubramanian, et al. · The Journal of Clinical Endocrinology & Metabolism · 176
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues
2007 · Elizabeth A. Hurd, Patrice L. Capers, et al. · Mammalian Genome · 170
CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis
2007 · Xiaochong Gao, Derek Gordon, et al. · The American Journal of Human Genetics · 155
The Chromatin Remodeler CHD7 Regulates Adult Neurogenesis via Activation of SoxC Transcription Factors
2013 · Weijun Feng, Muhammad Amir Khan, et al. · Cell stem cell · 150
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Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
2009 · Victoria Randall, Karen McCue, et al. · Journal of Clinical Investigation · 149
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Works count: 1,099
Citation count: 21,030
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