Dysosteosclerosis is also caused by TNFRSF11A mutation

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

(2017) Zheng Wang et al.   JOURNAL OF HUMAN GENETICS

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

(2017) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

(2016) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

(2016) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

(2014) S. Miyatake et al.   CLINICAL GENETICS

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Equilibrative Nucleoside Transporter 3 Deficiency Perturbs Lysosome Function and Macrophage Homeostasis

(2011) C.-L. Hsu et al.   SCIENCE

Expanding the clinical spectrum of SLC29A3 gene defects

(2010) Ronen Spiegel et al.   European Journal of Medical Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

(2009) T Furuichi et al.   JOURNAL OF MEDICAL GENETICS

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

(2008) Vered Molho-Pessach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS