Functionally compromisedCHD7alleles in patients with isolated GnRH deficiency

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

(2014) Yvonne Schulz et al.   HUMAN GENETICS

The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

(2014) Séverine Marcos et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L

(2012) Yasuyuki Kita et al.   GENES TO CELLS

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

(2012) Jorieke E.H. Bergman et al.   HUMAN MUTATION

Mutation update on the CHD7 gene involved in CHARGE syndrome

(2012) Nicole Janssen et al.   HUMAN MUTATION

The Results ofCHD7Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

(2012) Jorieke E. H. Bergman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of Chd7 in Zebrafish: A Model for CHARGE Syndrome

(2012) Shunmoogum A. Patten et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A graphical interface for the FoldX forcefield

(2011) J. Van Durme et al.   BIOINFORMATICS

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

(2011) S Pauli et al.   CLINICAL GENETICS

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

(2011) W. S. Layman et al.   HUMAN MOLECULAR GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

(2011) J. E. H. Bergman et al.   JOURNAL OF MEDICAL GENETICS

The developmental biology of the GnRH neurons

(2011) William F. Crowley   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

(2011) Ravikumar Balasubramanian et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

(2010) L. Foppiani et al.   ANDROLOGIA

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

(2010) Cynthia F. Bartels et al.   Genetic Testing and Molecular Biomarkers

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CHD7mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

(2009) Jorieke EH Bergman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The other nanotech

(2009)   Nature Nanotechnology

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS