Margherita Silengo

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Angela Sparago, Flavia Cerrato, Maria Vernucci et al. · Nature Genetics · 2004 · 366 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe et al. · PLoS Genetics · 2011 · 336 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 329 citations

Life Sciences, Genetics, Molecular Genetics +15