Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

(2019) Margherita Maioli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review

(2019) Yang-Jia Cao et al.   Frontiers in Endocrinology

Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

(2018) Fatemeh Maghami et al.   BMC Medical Genetics

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

(2018) Julia Mrosk et al.   BONE

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

(2016) Luisa Mackenroth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

(2015) Katarina Lindahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

(2015) Joshi Stephen et al.   European Journal of Medical Genetics

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

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

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

Mutation spectrum ofCOL1A1andCOL1A2genes in Indian patients with osteogenesis imperfecta

(2014) Joshi Stephen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

(2014) R.M. Patel et al.   CLINICAL 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

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

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

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH