Alicia Vaglio

Different <i>TBX5</i> interactions in heart and limb defined by Holt–Oram syndrome mutations

Craig T. Basson, Taosheng Huang, Robert C. Lin et al. · Proceedings of the National Academy of Sciences · 1999 · 365 citations

Life Sciences, Genetics, Molecular Genetics +17

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Matthew J. Rock, Jean Prenen, Vincent Funari et al. · Nature Genetics · 2008 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Eugen‐Matthias Strehle, Linbo Yu, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 121 citations

Life Sciences, Genetics, Molecular Genetics +17

Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available

Roberto Quadrelli, Andrea Quadrelli, Búrix Mechoso et al. · Prenatal Diagnosis · 2006 · 44 citations

Life Sciences, Genetics, Obstetrics +17

Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles

R Vignale, Alejandra Yusín, Ana Panuncio et al. · Pediatric Dermatology · 2002 · 22 citations

Medicine, Dermatology, Pathology +17