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 · 216 citations

Life Sciences, Genetics, Neuroscience +14

Adverse effects of prenatal methimazole exposure

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

Pharmacy, Toxicology, Developmental Toxicology +8

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 · 155 citations · Full text

Medicine, Genetics, Ophthalmology +17

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

Life Sciences, Genetics, Molecular Genetics +16

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

Michael J. B. Krieger, Andreas Roos, Claudia Stendel et al. · Brain · 2013 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15