Targeted Sequencing of a Pediatric Metabolic Bone Gene Panel Using a Desktop Semiconductor Next-Generation Sequencer

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

(2013) Shawna M. Pyott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

(2013) A. N. Abou Tayoun et al.   CLINICAL CHEMISTRY

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

(2013) Julien Tarabeux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets

(2013) Moira Cheung et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck et al.   NEUROBIOLOGY OF AGING

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples

(2013) Juan Gómez et al.   Journal of Cardiovascular Translational Research

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

(2012) Johanna Korvala et al.   BMC Medical Genetics

Progress in Ion Torrent semiconductor chip based sequencing

(2012) Barry Merriman et al.   ELECTROPHORESIS

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

(2011) Fleur S van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A clinician's guide to X-linked hypophosphatemia

(2011) Thomas O Carpenter et al.   JOURNAL OF BONE AND MINERAL RESEARCH

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

(2010) Mary D. Ruppe et al.   CLINICAL ENDOCRINOLOGY

Genetic Disorders and Defects in Vitamin D Action

(2010) Peter J. Malloy et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Short- and Long-Term Outcome of Patients with Pseudo-Vitamin D Deficiency Rickets Treated with Calcitriol

(2010) T. Edouard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols