Francesco Benedicenti

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 211 citations · Full text

Signal Transduction, Disease Mechanism, Genetic Disorder +7

Adverse effects of prenatal methimazole exposure

Elena Di Gianantonio, Christof Schaefer, P Mastroiacovo et al. · Teratology · 2001 · 208 citations

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson et al. · Human Mutation · 2011 · 152 citations · Full text

Pax2 Mutations, Urology, Mendelian Disorder +15

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Michael J. B. Krieger, Andreas Roos, Claudia Stendel et al. · Brain · 2013 · 85 citations · Full text

Rare Diseases, Mendelian Disorder, Autoimmune Disease +15