A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Diagnostic value of exome and whole genome sequencing in craniosynostosis

(2016) Kerry A Miller et al.   JOURNAL OF MEDICAL GENETICS

Clinical and genetic characteristics of craniosynostosis in Hungary

(2015) Beáta Bessenyei et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

(2014) Federico di Rocco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

(2014) Beatriz Paumard-Hernández et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

(2013) T. Roscioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Evaluation and management of nonsyndromic craniosynostosis

(2011) F Ursitti et al.   ACTA PAEDIATRICA

Craniosynostosis

(2011) David Johnson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

(2011) Lisenka E. L. M. Vissers et al.   PLoS Genetics

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis

(2010) A. O. M. Wilkie et al.   PEDIATRICS