Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

The Microfibril Hypothesis of Glaucoma: Implications for Treatment of Elevated Intraocular Pressure

(2014) John Kuchtey et al.   JOURNAL OF OCULAR PHARMACOLOGY AND THERAPEUTICS

Pediatric Glaucoma Surgery

(2014) Teresa C. Chen et al.   OPHTHALMOLOGY

Genomics and anterior segment dysgenesis: a review

(2013) Yoko A Ito et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Variations inCOL15A1andCOL18A1influence age of onset of primary open angle glaucoma

(2013) J L Wiggs et al.   CLINICAL GENETICS

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

Structural Analysis of Collagen Type I Interactions with Human Fibronectin Reveals a Cooperative Binding Mode

(2013) Michèle C. Erat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

(2012) Eranga N Vithana et al.   NATURE GENETICS

Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition

(2012) C. Widmer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Osteogenesis imperfecta und Glaukom

(2011) J. Rosbach et al.   OPHTHALMOLOGE

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia and secondary glaucoma

(2010) Julie Désir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Collagen-related genes influence the glaucoma risk factor, central corneal thickness

(2010) Eranga N. Vithana et al.   HUMAN MOLECULAR GENETICS

Glaucoma: genes, phenotypes, and new directions for therapy

(2010) Bao Jian Fan et al.   JOURNAL OF CLINICAL INVESTIGATION

CREB up-regulates long non-coding RNA, HULC expression through interaction with microRNA-372 in liver cancer

(2010) Jiayi Wang et al.   NUCLEIC ACIDS RESEARCH

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

(2009) Manir Ali et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Clinical and Molecular Genetic Study of German Patients with Primary Congenital Glaucoma

(2009) Nicole Weisschuh et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

(2009) David P. Dimasi et al.   HUMAN GENETICS

Structural changes of the trabecular meshwork in different kinds of glaucoma

(2008) Ozan-Yüksel Tektas et al.   EXPERIMENTAL EYE RESEARCH