Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences

(2013) Vydianathan Ravi et al.   PLoS Genetics

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Human Developmental Enhancers Conserved between Deuterostomes and Protostomes

(2012) Shoa L. Clarke et al.   PLoS Genetics

FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish

(2011) Michella Ghassibe-Sabbagh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective proventriculus specifies the ocellar region in the Drosophila head

(2011) Takeshi Yorimitsu et al.   DEVELOPMENTAL BIOLOGY

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

(2011) M. Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages

(2010) Kelly Sheehan-Rooney et al.   DEVELOPMENTAL DYNAMICS

A unique chromatin signature uncovers early developmental enhancers in humans

(2010) Alvaro Rada-Iglesias et al.   NATURE

Identification of SOX9 Interaction Sites in the Genome of Chondrocytes

(2010) Chun-do Oh et al.   PLoS One

Five-Vertebrate ChIP-seq Reveals the Evolutionary Dynamics of Transcription Factor Binding

(2010) D. Schmidt et al.   SCIENCE

Toriello-Carey syndrome in a patient with ade novobalanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

(2009) DH Tegay et al.   CLINICAL GENETICS

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

(2009) Jill Urquhart et al.   European Journal of Medical Genetics

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

ChIP-seq accurately predicts tissue-specific activity of enhancers

(2009) Axel Visel et al.   NATURE

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

(2008) J.A. Fantes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

(2008) Julia Baptista et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RETROSPECTIVE REVIEW OF STICKLER SYNDROME PATIENTS WITH CLEFT PALATE 1997-2004

(2008) Kai H. Lee et al.   ANZ JOURNAL OF SURGERY

Pyramidal Neurons Grow Up and Change Their Mind

(2008) Gord Fishell et al.   NEURON

Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

(2008) Elizabeth A. Alcamo et al.   NEURON

Recruitment to the Nuclear Periphery Can Alter Expression of Genes in Human Cells

(2008) Lee E. Finlan et al.   PLoS Genetics

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols