Atypical phenotypes associated with pathogenicCHD7variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

(2014) Nicole Corsten-Janssen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia

(2014) Glenn E. Green et al.   OTOLOGY & NEUROTOLOGY

Functionally compromisedCHD7alleles in patients with isolated GnRH deficiency

(2014) Ravikumar Balasubramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Family history and clefting as major criteria for CHARGE syndrome

(2013) Susan Starling Hughes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MED12related disorders

(2013) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype

(2013) G. Cappuccio et al.   CLINICAL GENETICS

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

(2013) Tian Yu et al.   eLife

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature

(2012) Orazio Palumbo et al.   GENE

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

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

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

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

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

Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies

(2010) Katharine E. Brock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome

(2010) Gabriel E. Zentner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

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

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

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

(2010) Angela Michelucci et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

(2009) J Wincent et al.   CLINICAL GENETICS

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

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Radial aplasia in CHARGE syndrome: A new association

(2009) E.M.M. Burkitt Wright et al.   European Journal of Medical Genetics

Expanding the “E” in CHARGE

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A