Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization

(2012) V. S. Tagliabracci et al.   SCIENCE

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Wnt Signaling in Mammalian Development: Lessons from Mouse Genetics

(2012) J. Wang et al.   Cold Spring Harbor Perspectives in Biology

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

(2012) Xiaofang Wang et al.   PLoS Genetics

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene

(2011) Tasuku Saito et al.   BONE

The expanding family of hypophosphatemic syndromes

(2011) Thomas O. Carpenter   JOURNAL OF BONE AND MINERAL METABOLISM

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

(2010) Bettina Lorenz-Depiereux et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent

(2010) Gurpreet Singh Kochar et al.   CLINICAL DYSMORPHOLOGY

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

(2010) M Fradin et al.   CLINICAL GENETICS

Effect of smoking on the serum levels of 25-hydroxyvitamin D depends on the assay employed

(2010) Guri Grimnes et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

(2010) Outi Mäkitie 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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice

(2009) Guoying Liang et al.   CALCIFIED TISSUE INTERNATIONAL

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

(2009) MA Simpson et al.   CLINICAL GENETICS

Species-Specific Differences in the Expression of the HNF1A, HNF1B and HNF4A Genes

(2009) Lorna W. Harries et al.   PLoS One

Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients

(2008) Itsuro Endo et al.   BONE

Endocrine functions of bone in mineral metabolism regulation

(2008) L. Darryl Quarles   JOURNAL OF CLINICAL INVESTIGATION

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

(2008) Martin J Barron et al.   Orphanet Journal of Rare Diseases

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

(2008) Murat Bastepe et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS