Peter J. Scambler

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality.

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

Evolving concepts in human renal dysplasia.

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.

Identification of mutations in CUL7 in 3-M syndrome.

Familial gigantism caused by an NSD1 mutation.

Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.

Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.

Cardiac phenotyping in ex vivo murine embryos using microMRI.

Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm.

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

Distinct factors control histone variant H3.3 localization at specific genomic regions.

Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping.

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system.

Expression of Fraser syndrome genes in normal and polycystic murine kidneys.

Mutations in GRIP1 cause Fraser syndrome.

Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation.

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.

Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling.

Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.

Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

A coming of age: advanced imaging technologies for characterising the developing mouse.

Novel exomphalos genetic mouse model: the importance of accurate phenotypic classification.

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus.

In amnio MRI of mouse embryos.

Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1.

The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Neural crest-derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation.

A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development.

Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

22q11.2 deletion syndrome.

Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus.

HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.