Michela Robusto

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Giulia Soldà, Michela Robusto, Paola Primignani et al. · Human Molecular Genetics · 2011 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Giulia Soldà, Sonia Caccia, Michela Robusto et al. · Journal of Human Genetics · 2015 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Rosanna Asselta, Manuela Platé, Michela Robusto et al. · Thrombosis and Haemostasis · 2014 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

Michela Robusto, Mingyan Fang, Rosanna Asselta et al. · European Journal of Human Genetics · 2014 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ‐module

Rosanna Asselta, Michela Robusto, Paola Braidotti et al. · Journal of Thrombosis and Haemostasis · 2015 · 36 citations · Full text

Medicine, Genetics, Molecular Genetics +13