Mutations inSIPA1L3cause eye defects through disruption of cell polarity and cytoskeleton organization

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

(2015) Christina Evers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

(2015) Brett Deml et al.   PLoS Genetics

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

(2014) Joe Rainger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

(2014) Rachel L. Gillespie et al.   OPHTHALMOLOGY

Scrib is required for epithelial cell identity and prevents epithelial to mesenchymal transition in the mouse

(2013) Idella F. Yamben et al.   DEVELOPMENTAL BIOLOGY

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

(2013) Ivan Prokudin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Rac1 GTPase-deficient mouse lens exhibits defects in shape, suture formation, fiber cell migration and survival

(2011) Rupalatha Maddala et al.   DEVELOPMENTAL BIOLOGY

The ocular lens: a classic model for development, physiology and disease

(2011) I. M. Wormstone et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

RapGAPs in brain: multipurpose players in neuronal Rap signalling

(2010) Christina Spilker et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A cell polarity protein aPKCλ is required for eye lens formation and growth

(2009) Yuki Sugiyama et al.   DEVELOPMENTAL BIOLOGY

Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival

(2009) Giuseppe F. Pontoriero et al.   DEVELOPMENTAL BIOLOGY

Pitx3 controls multiple aspects of lens development

(2009) Olga Medina-Martinez et al.   DEVELOPMENTAL DYNAMICS

Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies

(2009) Sibel Ugur Iseri et al.   HUMAN MUTATION

The basics of epithelial-mesenchymal transition

(2009) Raghu Kalluri et al.   JOURNAL OF CLINICAL INVESTIGATION

Phosphorylation of Rap1GAP, a striatally enriched protein, by protein kinase A controls Rap1 activity and dendritic spine morphology

(2009) T. McAvoy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cell–cell junction formation: The role of Rap1 and Rap1 guanine nucleotide exchange factors

(2008) Willem-Jan Pannekoek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Transparent Adult Zebrafish as a Tool for In Vivo Transplantation Analysis

(2008) Richard Mark White et al.   Cell Stem Cell

Identification of adherens junction-associated GTPase activating proteins by the fluorescence localization-based expression cloning

(2007) Miho Matsuda et al.   EXPERIMENTAL CELL RESEARCH