Biallelic COLGALT1 variants are associated with cerebral small vessel disease

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

(2017) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

A Rapid Molecular Approach for Chromosomal Phasing

(2015) John F. Regan et al.   PLoS One

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

(2011) Yi-Chinn Weng et al.   ANNALS OF NEUROLOGY

Identification of Domains and Amino Acids Essential to the Collagen Galactosyltransferase Activity of GLT25D1

(2011) Claire Perrin-Tricaud et al.   PLoS One

The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein

(2010) Jolanda MP Liefhebber et al.   BMC CELL BIOLOGY

Core Glycosylation of Collagen Is Initiated by Two  (1-O)Galactosyltransferases

(2008) B. Schegg et al.   MOLECULAR AND CELLULAR BIOLOGY