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

Mutation update on the CHD7 gene involved in CHARGE syndrome

(2012) Nicole Janssen et al.   HUMAN MUTATION

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

(2011) Morris A Swertz et al.   BMC BIOINFORMATICS

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

(2011) S Pauli et al.   CLINICAL GENETICS

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

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

Síndrome de CHARGE y mutación en el gen CHD7

(2011) A. de Arriba Muñoz et al.   NEUROLOGIA

Rapid and efficient cancer cell killing mediated by high-affinity death receptor homotrimerizing TRAIL variants

(2011) C R Reis et al.   Cell Death & Disease

Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome

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

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

(2010) Kathrin Wessels et al.   European Journal of Medical Genetics

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

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

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

(2010) T. L. McGee et al.   JOURNAL OF MEDICAL GENETICS

Analysis of Disease-Linked Rhodopsin Mutations Based on Structure, Function, and Protein Stability Calculations

(2010) Elizabeth P. Rakoczy et al.   JOURNAL OF MOLECULAR BIOLOGY

Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome

(2010) Jorieke E.H. Bergman et al.   JOURNAL OF PEDIATRICS

The Chromodomains of the Chd1 Chromatin Remodeler Regulate DNA Access to the ATPase Motor

(2010) Glenn Hauk et al.   MOLECULAR CELL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Using protein design algorithms to understand the molecular basis of disease caused by protein–DNA interactions: the Pax6 example

(2010) Andreu Alibés et al.   NUCLEIC ACIDS RESEARCH

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

(2010) A. Dauber et al.   PEDIATRICS

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

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

(2009) Alessandra Zanetti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8

(2009) Elmar Krieger et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

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

Abnormal Basiocciput Development in CHARGE Syndrome

(2008) K. Fujita et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

(2008) Pia E. Vuorela et al.   CLINICAL DYSMORPHOLOGY

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

(2008) Jorieke E.H. Bergman et al.   European Journal of Medical Genetics

In silico analysis of missense substitutions using sequence-alignment based methods

(2008) Sean V. Tavtigian et al.   HUMAN MUTATION

New Recognized Ophthalmic Morphologic Anomalies in CHARGE Syndrome Caused by the R2319C Mutation in theCHD7Gene

(2008) Heinrich M. Holak et al.   OPHTHALMIC GENETICS

Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome

(2007) Yumi Asakura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM