Margherita Lerone

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 704 citations

Medicine, Genetics, Molecular Genetics +16

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

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Stanislas Lyonnet, Alessandra Bolino, Anna Pelet et al. · Nature Genetics · 1993 · 192 citations

Life Sciences, Genetics, Molecular Genetics +8

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

Hamish S. Scott, Maarit Heino, Pärt Peterson et al. · Molecular Endocrinology · 1998 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Virginia Barone, Alessandra Bolino et al. · Human Mutation · 1997 · 137 citations

Life Sciences, Genetics, Molecular Genetics +16