Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

M. Ye, Karyn M. Berry-Wynne, Mika Asai-Coakwell, +12

Human Molecular Genetics

Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

Tim Footz, Polly Brinkman-Mills, Graham Banting, +22

Genome Research

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma

Adrian Lahola-Chomiak, Tim Footz, Kim Nguyen-Phuoc, +15

Human Molecular Genetics

Ocular DiseaseDevelopmental BiologyPigmentary GlaucomaOphthalmologyNon-synonymous Variants +13

Severe Molecular Defects of a Novel<i>FOXC1 W152G</i>Mutation Result in Aniridia

Yoko Itō, Tim Footz, Fred B. Berry, +4

Investigative Ophthalmology & Visual Science

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system

Tim Footz, Jill L. Johnson, Stéphane Dubois, +3

Human Molecular Genetics

GeneticsMolecular BiologyFunctional DefectsMolecular GeneticsGlaucoma-associated Wdr36 Variants +16

FGF19 is a target for FOXC1 regulation in ciliary body-derived cells

Yahya Tamimi, Jonathan M. Skarie, Tim Footz, +3

Human Molecular Genetics

Fractalkine signaling regulates oligodendroglial cell genesis from SVZ precursor cells

Adrianne E. S. Watson, Monique Marylin Alves de Almeida, Nicole L. Dittmann, +8

Stem Cell Reports

Analysis of Mutations of the<i>PITX2</i>Transcription Factor Found in Patients with Axenfeld-Rieger Syndrome

Tim Footz, Faisal Idrees, Moulinath Acharya, +2

Investigative Ophthalmology & Visual Science

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma

Meredith Protas, Eric Weh, Tim Footz, +8

Human Molecular Genetics

Conserved Non-coding ElementsOcular DiseaseGene DesertGeneticsGenomic Mechanism +19

<i>FOXF2</i>is required for cochlear development in humans and mice

Güney Bademci, Clemer Abad, Armağan İncesulu, +19

Human Molecular Genetics

GeneticsGenomic MechanismHuman CochleaGene CharacterizationMolecular Genetics +17