PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

(2016) Fulya Taylan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

(2015) Ludwig Heesen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

New Genetic Forms of Childhood-Onset Primary Osteoporosis

(2015) Anders J. Kämpe et al.   Hormone Research in Paediatrics

A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

(2015) Christine M Laine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

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

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions

(2014) Nick Bishop et al.   JOURNAL OF CLINICAL DENSITOMETRY

Identification and Selective Degradation of Neopeptide-Containing Truncated Mutant Proteins in the Tumors with High Microsatellite Instability

(2013) W. K. Kim et al.   CLINICAL CANCER RESEARCH

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

(2013) Alison N. Lyon et al.   HUMAN MOLECULAR GENETICS

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

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

PLS3 Mutations in X-Linked Osteoporosis with Fractures

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

Lessons learned from implementing a national infrastructure in Sweden for storage and analysis of next-generation sequencing data

(2013) Samuel Lampa et al.   GigaScience

Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study

(2012) Mervi K Mäyränpää et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Standardized nomenclature, symbols, and units for bone histomorphometry: A 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

(2012) David W Dempster et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bone biopsy findings and correlation with clinical, radiological, and biochemical parameters in children with fractures

(2011) Mervi K Mäyränpää et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoporosis in children: pediatric and pediatric rheumatology perspective: a review

(2009) Yosef Uziel et al.   Pediatric Rheumatology

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE