Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Robusto · SciRah

Researcher profile · Semantic Scholar

M. Robusto

Share profile

M. Robusto — researcher profile on SciRah

h-index: 10
Works: 17
Citations: 370

Most-cited papers

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
G. Soldà, M. Robusto, P. Primignani, P. Castorina +5 more
2011Human Molecular Genetics108 citations Open access
Semantic Scholar
First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
G. Soldà, S. Caccia, M. Robusto, C. Chiereghin +4 more
2015Journal of Human Genetics46 citations Open access
Semantic Scholar
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency
R. Asselta, M. Platé, M. Robusto, M. Borhany +7 more
2014Thrombosis and Haemostasis40 citations
Semantic Scholar
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ‐module
R. Asselta, M. Robusto, P. Braidotti, F. Peyvandi +6 more
2015Journal of Thrombosis and Haemostasis36 citations Open access
Semantic Scholar
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
M. Robusto, M. Fang, R. Asselta, P. Castorina +13 more
2014European Journal of Human Genetics31 citations Open access
Semantic Scholar
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
C. Chiereghin, M. Robusto, A. Mastrangelo, P. Castorina +5 more
2017PLoS ONE27 citations Open access
Semantic Scholar
Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.
R. Asselta, M. Robusto, M. Platé, C. Santoro +2 more
2015Thrombosis Research23 citations
Semantic Scholar
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases
A. Mastrangelo, M. Giani, E. Groppali, P. Castorina +6 more
2020Frontiers in Medicine18 citations Open access
Semantic Scholar
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
C. Chiereghin, M. Robusto, Valentina Massa, P. Castorina +3 more
2022Cells17 citations Open access
Semantic Scholar
DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease
M. Vecellio, E. Paraboschi, A. Ceribelli, N. Isailovic +11 more
2021Frontiers in Cell and Developmental Biology10 citations Open access
Semantic Scholar
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
C. Chiereghin, M. Robusto, L. Mauri, P. Primignani +5 more
2021Frontiers in Genetics9 citations Open access
Semantic Scholar
In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
C. Chiereghin, M. Robusto, Morag A. Lewis, Susana Caetano +7 more
2023PLoS ONE3 citations Open access
Semantic Scholar
INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE
M. Robusto
20141 citations
Semantic Scholar
Pharmacological screening identified promising combination partners in marginal zone lymphoma models with secondary resistance to BTK and PI3K inhibitors
A. Arribas, S. Vultaggio, A. Andronache, M. Robusto +10 more
2022European Journal of Cancer0 citations Open access
Semantic Scholar
congenital fibrinogen deficiency in Pakistan and identification of five novel mutations : Ff02
M. Borhany, M. Robusto, N. Fatima, T. Shamsi +3 more
20140 citations
Semantic Scholar
Identification by exome sequencing and functional characterization of novel deafness-causing mutations in PRPS1
M. Robusto, R. Asselta, S. Lancellotti, P. Primignani +5 more
20120 citations
Semantic Scholar
Exome sequencing identifies PRPS1 as a major locus for X-linked nonsyndromic hearing loss in the Italian population
M. Robusto, J. Zhang, R. Asselta, J. Liang +9 more
20120 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

R. Asselta×14
Invite
R. Asselta — researcher profile on SciRah
S. Duga×13
Invite
S. Duga — researcher profile on SciRah
G. Soldà×11
Invite
G. Soldà — researcher profile on SciRah
P. Castorina×10
Invite
P. Castorina — researcher profile on SciRah

×8

Invite

U. Ambrosetti — researcher profile on SciRah

P. Primignani×5

Invite

P. Primignani — researcher profile on SciRah

Invite

S. Caccia — researcher profile on SciRah

C. Chiereghin×5

Invite

C. Chiereghin — researcher profile on SciRah

Invite

F. Peyvandi — researcher profile on SciRah

Elena Benzoni×2

Invite

Elena Benzoni — researcher profile on SciRah

Invite

A. Cesarani — researcher profile on SciRah

Invite

M. Platé — researcher profile on SciRah