A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

(2014) Telma Palomo et al.   BONE

Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice

(2014) A. M. Muir et al.   HUMAN MOLECULAR GENETICS

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

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

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

(2013) Somayyeh Fahiminiya et al.   BONE

Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation

(2013) Heike Hoyer-Kuhn et al.   CALCIFIED TISSUE INTERNATIONAL

Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations inCOL1A1

(2013) I Mouna Ben Amor et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

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

Alternative cleavage and polyadenylation: extent, regulation and function

(2013) Ran Elkon et al.   NATURE REVIEWS GENETICS

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI

(2012) Frank Rauch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Pigment epithelium-derived factor as a new marker of metabolic syndrome in Caucasian population

(2010) D. Stejskal et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

(2009) N. Fratzl-Zelman et al.   BONE

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII

(2009) N. Fratzl-Zelman et al.   BONE

Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations

(2008) Paul Roschger et al.   CALCIFIED TISSUE INTERNATIONAL

3′ end mRNA processing: molecular mechanisms and implications for health and disease

(2008) Sven Danckwardt et al.   EMBO JOURNAL

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE