Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

(2016) Tomokazu Souma et al.   JOURNAL OF CLINICAL INVESTIGATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations

(2015) Laura Morales-Fernandez et al.   JOURNAL OF GLAUCOMA

Regulation of DEAH/RHA Helicases by G-Patch Proteins

(2015) Julien Robert-Paganin et al.   Biomed Research International

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

(2015) Cristina Medina-Trillo et al.   PLoS One

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Live image profiling of neural crest lineages in zebrafish transgenic lines

(2013) Jina Kwak et al.   MOLECULES AND CELLS

BMP Signaling Protects Telencephalic Fate by Repressing Eye Identity and Its Cxcr4-Dependent Morphogenesis

(2012) Holger Bielen et al.   DEVELOPMENTAL CELL

Newborn primary congenital glaucoma: Histopathologic features of the anterior chamber filtration angle

(2012) Lynn P. Perry et al.   JOURNAL OF AAPOS

Null CYP1B1 Genotypes in Primary Congenital and Nondominant Juvenile Glaucoma

(2012) María-Pilar López-Garrido et al.   OPHTHALMOLOGY

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

(2012) Yi Liu et al.   PLoS One

Chemokine-mediated migration of mesencephalic neural crest cells

(2011) Francine Rezzoug et al.   CYTOKINE

A Zebrafish Model of Axenfeld-Rieger Syndrome Reveals That pitx2 Regulation by Retinoic Acid Is Essential for Ocular and Craniofacial Development

(2011) B. L. Bohnsack et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma

(2011) Kerry N. Veth et al.   PLoS Genetics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A role for chemokine signaling in neural crest cell migration and craniofacial development

(2009) Eugenia C. Olesnicky Killian et al.   DEVELOPMENTAL BIOLOGY

ZIP: a novel transcription repressor, represses EGFR oncogene and suppresses breast carcinogenesis

(2009) Ruifang Li et al.   EMBO JOURNAL

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols