The Revolution in Human Monogenic Disease Mapping

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

The phenotype and genotype of fibrodysplasia ossificans progressiva in China: A report of 72 cases

(2013) Wei Zhang et al.   BONE

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

(2013) Aideen M. McInerney-Leo et al.   CLINICAL ENDOCRINOLOGY

Hunting human disease genes: lessons from the past, challenges for the future

(2013) Liam R. Brunham et al.   HUMAN GENETICS

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

(2013) Karen A. Hunt et al.   NATURE

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

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

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

(2013) S. Lazarus et al.   OSTEOPOROSIS INTERNATIONAL

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

(2012) Andreas Zankl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

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

Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

(2011) Evgeny A. Glazov et al.   PLoS Genetics

Challenges of sequencing human genomes

(2010) D. C. Koboldt et al.   BRIEFINGS IN BIOINFORMATICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Inherited human diseases of heterotopic bone formation

(2010) Eileen M. Shore et al.   Nature Reviews Rheumatology

Probabilistic resolution of multi-mapping reads in massively parallel sequencing data using MuMRescueLite

(2009) T. Hashimoto et al.   BIOINFORMATICS

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

(2008) Frederick S. Kaplan et al.   HUMAN MUTATION