PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, +57

JCI Insight

Trends in congenital anomalies in Europe from 1980 to 2012

Joan K. Morris, Anna Springett, Ruth Greenlees, +26

PLoS ONE

Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study

Joanne Given, Maria Loane, Ester Garne, +10

BMJ

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

Andreas Zankl, Emma L. Duncan, Paul Leo, +14

The American Journal of Human Genetics

SclerostinBone Morphogenic ProteinGeneticsBone RepairMolecular Biology +4

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry, +67

Nephron Physiology

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, +7

PLoS ONE

Prevention of Neural Tube Defects in Europe: A Public Health Failure

Joan K. Morris, Marie-Claude Addor, Elisa Ballardini, +29

Frontiers in Pediatrics

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Ester Garne, Marie-Claude Addor, Ingeborg Barišić, +27

European Journal of Medical Genetics

Ocular DiseaseOphthalmologyMaternal AgeSepto-optic DysplasiaPediatrics +5

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori, +19

Journal of Human Genetics

Mendelian DisorderGenetic DisorderGenetic EpidemiologyPathologyCfc Syndrome +5

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Claudio Reggiani, Sandra Coppens, Tayeb Sékhara, +25

Genome Medicine