An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer, +195

Genome biology

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner, +51

The American Journal of Human Genetics

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Giedré Grigelioniené, Hiroshi Suzuki, Fulya Taylan, +17

Nature Medicine

Developmental BiologyHuman Skeletal DysplasiaGeneticsMedicineSkeletal Biology +5

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira, Zhi‐Jie Xia, Aurélie Clément, +51

The American Journal of Human Genetics

Signal TransductionGlycosylationAltered Proteoglycan GlycosylationDisrupted Vesicular TraffickingGlycobiology +9

Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes

Anna Lindstrand, Giedré Grigelioniené, Daniel Nilsson, +17

Journal of Medical Genetics

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Ender Altıok, Figen Aksoy, Yıldız Perk, +6

Clinical Immunology

InflammationNovel MutationCytokineMaternal ImmunizationAutoimmune Disease +8

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Anders Kämpe, Alice Costantini, Riikka E. Mäkitie, +8

Osteoporosis International

<i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Anders Kämpe, Alice Costantini, Yael Levy‐Shraga, +12

Journal of Bone and Mineral Research

Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum

Fulya Taylan, Alice Costantini, Nicole Coles, +9

Journal of Bone and Mineral Research

The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians

Samina Asad, M.C.G. Winge, Carl‐Fredrik Wahlgren, +4

Journal of the European Academy of Dermatology and Venereology