A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases

(2017) Shashank Gupta et al.   EXPERIMENTAL EYE RESEARCH

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex

(2016) Jing You et al.   AMERICAN JOURNAL OF HUMAN GENETICS

2- and 6-O-sulfated proteoglycans have distinct and complementary roles in cranial axon guidance and motor neuron migration

(2016) Miguel Tillo et al.   DEVELOPMENT

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

(2016) Michael J Friez et al.   BMJ Open

Genetic causes of intellectual disability in a birth cohort: A population-based study

(2015) Simone M. Karam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Role of heparan sulfate proteoglycans in optic disc and stalk morphogenesis

(2014) Zhigang Cai et al.   DEVELOPMENTAL DYNAMICS

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Down-regulated HS6ST2 in osteoarthritis and Kashin-Beck disease inhibits cell viability and influences expression of the genes relevant to aggrecan metabolism of human chondrocytes

(2011) W. Wang et al.   RHEUMATOLOGY

Heparan Sulfate Proteoglycans

(2011) S. Sarrazin et al.   Cold Spring Harbor Perspectives in Biology

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders