A familial 7q36.3 duplication associated with agenesis of the corpus callosum

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

(2014) Timothy J. Edwards et al.   BRAIN

Evolution and development of interhemispheric connections in the vertebrate forebrain

(2014) Rodrigo Suárez et al.   Frontiers in Human Neuroscience

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes

(2013) Aintzane Urbizu et al.   PLoS One

Sonic hedgehog and Wnt: antagonists in morphogenesis but collaborators in axon guidance

(2013) Evelyn C. Avilés et al.   Frontiers in Cellular Neuroscience

Evidence for SHH as a candidate gene for encephalocele

(2012) Kelly A. Bear et al.   CLINICAL DYSMORPHOLOGY

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

(2012) L. Kroeldrup et al.   European Journal of Medical Genetics

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

(2012) Benjamin D Solomon et al.   JOURNAL OF MEDICAL GENETICS

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Cerebral Anomalies and Chiari Type 1 Malformation

(2011) Marcelo Galarza et al.   PEDIATRIC NEUROSURGERY

Identification of genomic loci contributing to agenesis of the corpus callosum

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of genotype-phenotype correlations in human holoprosencephaly

(2010) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

(2010) Jin S. Hahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies

(2010) J.S. Hahn et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Balanced Shh signaling is required for proper formation and maintenance of dorsal telencephalic midline structures

(2010) Diana S Himmelstein et al.   BMC DEVELOPMENTAL BIOLOGY

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

(2010) Jill A. Rosenfeld et al.   HUMAN GENETICS

Molecular regulation of the developing commissural plate

(2010) Randal X. Moldrich et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early mouse caudal development relies on crosstalk between retinoic acid, Shh and Fgf signalling pathways

(2009) V. Ribes et al.   DEVELOPMENT

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

(2009) R.W. Stottmann et al.   DEVELOPMENTAL BIOLOGY

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

(2009) Claude Bendavid et al.   HUMAN MUTATION

Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

(2008) Chayim Can Schell-Apacik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

(2008) D. Hu et al.   DEVELOPMENT

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

(2008) Pamela V Tran et al.   NATURE GENETICS