Fortunato Lonardo

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

Oncogenic potential of erbB-2 in human mammary epithelial cells.

Pierce Jh, Paul Arnstein, E DIMARCO et al. · PubMed · 1991 · 141 citations

Medicine, Molecular Biology, Oncology +14

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

Medicine, Molecular Genetics, Neurology +11

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates et al. · Genetics in Medicine · 2020 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>SNORD116</i> deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly

Paolo Fontana, Marina Grasso, Fabio Acquaviva et al. · Clinical Genetics · 2017 · 62 citations

Life Sciences, Genetics, Molecular Genetics +16