Lista de obras -

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

artículo científico publicado en 2017

A highly conserved Wnt-dependent TCF4 binding site within the proximal enhancer of the anti-myogenic Msx1 gene supports expression within Pax3-expressing limb bud muscle precursor cells

scientific journal article

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

artículo científico publicado en 2014

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

artículo científico publicado en 2011

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice ⬇️

artículo científico publicado el 2 de junio de 2011

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

scientific journal article

Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction ⬇️

artículo científico publicado el 26 de febrero de 2013

Diagnostic value of exome and whole genome sequencing in craniosynostosis

artículo científico publicado en 2016

Eeyore: a novel mouse model of hereditary deafness

artículo científico publicado en 2013

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

artículo científico publicado en 2015

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

scientific journal article

Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.

artículo científico publicado en 2012

Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

artículo científico publicado en 2012

Is there a functional link between gene interdigitation and multi-species conservation of synteny blocks?

artículo científico publicado en 2004

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.

artículo científico publicado en 2015

Postgenomic bioinformatic analysis of yeast artificial chromosome sequence.

artículo científico publicado en 2006

Prediction and characterisation of a highly conserved, remote and cAMP responsive enhancer that regulates Msx1 gene expression in cardiac neural crest and outflow tract.

artículo científico publicado en 2008

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

artículo científico publicado en 2015

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1

artículo científico publicado en 2013

Lista de obras de

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

A highly conserved Wnt-dependent TCF4 binding site within the proximal enhancer of the anti-myogenic Msx1 gene supports expression within Pax3-expressing limb bud muscle precursor cells

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice ⬇️

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

Characterization of a novel ENU-generated myosin VI mutant mouse strain with congenital deafness and vestibular dysfunction ⬇️

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Eeyore: a novel mouse model of hereditary deafness

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene.

Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

Is there a functional link between gene interdigitation and multi-species conservation of synteny blocks?

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Olfr603, an orphan olfactory receptor, is expressed in multiple specific embryonic tissues.

Postgenomic bioinformatic analysis of yeast artificial chromosome sequence.

Prediction and characterisation of a highly conserved, remote and cAMP responsive enhancer that regulates Msx1 gene expression in cardiac neural crest and outflow tract.

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1