Somatic mutations inGLI3andOFD1involved in sonic hedgehog signaling cause hypothalamic hamartoma

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

New insights into genotype–phenotype correlation for GLI3 mutations

(2014) Florence Démurger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

(2014) Yangfan P. Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

(2014) Ennio Del Giudice et al.   Orphanet Journal of Rare Diseases

The E3 ubiquitin ligase UBR5 is recurrently mutated in mantle cell lymphoma

(2013) B. Meissner et al.   BLOOD

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

(2013) Véronique Darmency-Stamboul et al.   European Journal of Medical Genetics

C5orf42 is the major gene responsible for OFD syndrome type VI

(2013) Estelle Lopez et al.   HUMAN GENETICS

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Oral-Facial-Digital Syndrome Type 1 With Hypothalamic Hamartoma and Dandy-Walker Malformation

(2013) Takayuki Azukizawa et al.   PEDIATRIC NEUROLOGY

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

(2010) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ofd1 is required in limb bud patterning and endochondral bone development

(2010) Sabrina Bimonte et al.   DEVELOPMENTAL BIOLOGY

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

(2010) Jennifer J. Johnston et al.   HUMAN MUTATION

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome

(2009) Fabien Guimiot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The molecular basis of oral-facial-digital syndrome, type 1

(2009) Marina Macca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus

(2008) David W. Craig et al.   AMERICAN JOURNAL OF HUMAN GENETICS