Rita Fischetto

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 · 354 citations · Full text

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

Marcella Zollino, Rosetta Lecce, Rita Fischetto et al. · The American Journal of Human Genetics · 2003 · 268 citations · Full text

Wolf-hirschhorn Syndrome Phenotype, Developmental Biology, Mendelian Disorder +8

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Developmental Biology, Genetic Disorder, Epigenetic Change +7

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Daniel Kelberman, Sandra C. de Castro, Shuwen Huang et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 179 citations · Full text

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John J. Reynolds, Louise S. Bicknell, Paula Carroll et al. · Nature Genetics · 2017 · 109 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8