Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening ofCOL1A1andCOL1A2point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2genes

(2011) Heather L Hondow et al.   BMC CANCER

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

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

High-Resolution Melting Analysis Is a More Effective Approach for Screening TSC Genes Mutations

(2011) Tz-Shiu Tsai et al.   Genetic Testing and Molecular Biomarkers

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

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

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complete COL1A1 allele deletions in osteogenesis imperfecta

(2010) Fleur S van Dijk et al.   GENETICS IN MEDICINE

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

(2009) Sonia Garritano et al.   BMC GENETICS

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY

Classification of Osteogenesis Imperfecta revisited

(2009) F.S. Van Dijk et al.   European Journal of Medical Genetics

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application toMLH1germline mutations in Lynch syndrome

(2009) Etienne Rouleau et al.   HUMAN MUTATION

Spectrum ofPEX6mutations in Zellweger syndrome spectrum patients

(2009) Merel S. Ebberink et al.   HUMAN MUTATION

Rapid detection of carriers with BRCA1 and BRCA2mutations using high resolution melting analysis

(2008) Elena A Takano et al.   BMC CANCER

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations

(2008) Inmaculada de Juan et al.   BREAST CANCER RESEARCH AND TREATMENT

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION