Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

(2017) Zornitza Stark et al.   GENETICS IN MEDICINE

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

(2016) Karin Pichler et al.   Scientific Reports

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

Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.

(2015) R Nishikomori et al.   Pediatric Rheumatology

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations inMAFB, a negative regulator of RANKL-induced osteoclastogenesis

(2014) Steven Mumm et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The identification ofMAFBmutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability

(2013) Cybel Mehawej et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

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

The expanding scope of DNA sequencing

(2012) Jay Shendure et al.   NATURE BIOTECHNOLOGY

Inherited multicentric osteolysis: case report of three siblings treated with bisphosphonate

(2010) Senq-J Lee et al.   Pediatric Rheumatology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS