Roberto Quadrelli

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

Thalidomide, a current teratogen in South America

Eduardo E. Castilla, Patrícia Ashton‐Prolla, E. Barreda‐Mejia et al. · Teratology · 1996 · 104 citations

Medicine, Obstetrics, Pharmacology +13

Parental origin of apparently balanced <i>de novo</i> complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis

Martina Höckner, Houda Karmous‐Benailly, Desheng Liang et al. · Clinical Genetics · 2010 · 82 citations

Life Sciences, Genetics, Molecular Genetics +16

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