Gabriele Lorenzo Capone

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>FANCM</i>c.5791C&gt;T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Paolo Peterlongo, Irene Catucci, Mara Colombo et al. · Human Molecular Genetics · 2015 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Irene Paganini, Vivian Y. Chang, Gabriele Lorenzo Capone et al. · European Journal of Human Genetics · 2014 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

Rosario Caltabiano, Gaetano Magro, Agata Polizzi et al. · Child s Nervous System · 2017 · 66 citations

Medicine, Neuroscience, Oncology +12

A novel <i><scp>PAX1</scp></i> null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

Irene Paganini, Roberta Sestini, Gabriele Lorenzo Capone et al. · Clinical Genetics · 2017 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17