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M. Grasso · SciRah

Researcher profile · Semantic Scholar

M. Grasso

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M. Grasso — researcher profile on SciRah

h-index: 16
Works: 44
Citations: 1,157

Most-cited papers

Mutations in GDI1 are responsible for X-linked non-specific mental retardation
P. D'Adamo, A. Menegon, C. L. Nigro, M. Grasso +11 more
1998Nature Genetics320 citations
Semantic Scholar
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Ivan Ivanovski, O. Djuric, S. Caraffi, Daniela Santodirocco +76 more
2018Genetics in Medicine88 citations Open access
Semantic Scholar
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M. Cecconi, F. Forzano, Donatella Milani, S. Cavani +18 more
2005American Journal of Medical Genetics. Part A71 citations
Semantic Scholar
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.
P. Chiurazzi, M. Genuardi, L. Kozák, M. Giovannucci-Uzielli +8 more
1996American journal of medical genetics56 citations
Semantic Scholar
Neuroimaging Findings in Mowat-Wilson Syndrome: A Study of 54 Patients
L. Garavelli, Ivan Ivanovski, S. Caraffi, Daniela Santodirocco +54 more
2016Genetics in Medicine55 citations Open access
Semantic Scholar
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.
M. Grasso, E. Boon, S. Filipovic-Sadic, Patrick A. van Bunderen +5 more
2014Journal of Molecular Diagnostics52 citations Open access
Semantic Scholar
Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype
D. Cordelli, L. Garavelli, S. Savasta, A. Guerra +36 more
2013American Journal of Medical Genetics. Part A48 citations
Semantic Scholar
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
P. D'Adamo, A. Menegon, C. L. Nigro, M. Grasso +11 more
1998Nature Genetics42 citations Open access
Semantic Scholar
Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling
V. Viassolo, S. Previtali, E. Schiatti, G. Magnani +5 more
2008Clinical Genetics41 citations
Semantic Scholar
14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
M. Piccione, G. Serra, V. Consiglio, A. Di Fiore +6 more
2012American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly
Paolo Fontana, M. Grasso, F. Acquaviva, E. Gennaro +5 more
2017Clinical Genetics31 citations
Semantic Scholar
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
M. Grasso, F. Faravelli, C. L. Nigro, Pietro Chiurazzi +9 more
1999American journal of medical genetics28 citations
Semantic Scholar
Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene
M. Cecconi, F. Forzano, L. Garavelli, C. Pantaleoni +5 more
2008American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey
A. Sensi, S. Cavani, N. Villa, M. Pomponi +19 more
2004Prenatal Diagnosis24 citations
Semantic Scholar
Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation
G. Corsello, E. Salzano, D. Vecchio, Vincenzo Antona +6 more
2015American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Isochromosome not translocation in trisomy 21q21q
M. Grasso, M. L. Giovannucci Uzielli, Mauro Pierluigi, F. Tavellini +2 more
1989Human Genetics17 citations
Semantic Scholar
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
V. Gatta, E. Gennaro, S. Franchi, M. Cecconi +6 more
2013BMC Medical Genetics15 citations Open access
Semantic Scholar
Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.
F. D. Bricarelli, Mauro Pierluigi, M. Grasso, P. Strigini +1 more
2005American journal of medical genetics. Supplement15 citations
Semantic Scholar
Effect of x-rays on chromosome 21 nondisjunction.
P. Strigini, Mauro Pierluigi, G. Forni, R. Sansone +3 more
2005American journal of medical genetics. Supplement14 citations
Semantic Scholar
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome
B. Testa, G. Conteduca, M. Grasso, M. Cecconi +7 more
2023Genes13 citations Open access
Semantic Scholar
FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
E. Fernandez, E. Gennaro, F. Pirozzi, C. Baldo +7 more
2018Frontiers in Genetics12 citations Open access
Semantic Scholar
FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother
C. L. Nigro, F. Faravelli, S. Cavani, L. Perroni +4 more
2000European Journal of Human Genetics12 citations
Semantic Scholar
Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139))
P. D'Adamo, A. Menegon, C. Nigro, M. Grasso +11 more
199812 citations
Semantic Scholar
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.
L. Perroni, M. Grasso, A. Argusti, C. L. Nigro +4 more
1996American journal of medical genetics12 citations
Semantic Scholar
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother
S. Cavani, P. Prontera, M. Grasso, C. Ardisia +6 more
2011American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey
V. Falbo, G. Floridia, F. Tosto, F. Censi +7 more
2008Genetic Testing10 citations
Semantic Scholar
Crossing over and chromosome 21 nondisjunction: a study of 60 families.
L. Perroni, F. D. Bricarelli, M. Grasso, Mauro Pierluigi +3 more
2005American journal of medical genetics. Supplement10 citations
Semantic Scholar
Array CGH defined interstitial deletion on chromosome 14: a new case
M. Piccione, Vincenzo Antona, V. Scavone, M. Malacarne +3 more
2010European Journal of Pediatrics9 citations
Semantic Scholar
Deletion of NSD1 exon 14 in Sotos syndrome: first description
M. Piccione, V. Consiglio, A. Di Fiore, M. Grasso +3 more
2011Journal Genetika8 citations
Semantic Scholar
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
M. Cecconi, F. Forzano, R. Rinaldi, S. Cappellacci +5 more
2008Journal of Molecular Diagnostics8 citations Open access
Semantic Scholar
Aortic dilation in Sotos syndrome: An underestimated feature?
Lidia Pezzani, L. Mauri, A. Selicorni, A. Peron +7 more
2020American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)
F. Censi, F. Tosto, G. Floridia, Manuela Marra +14 more
2013BioMed Research International7 citations Open access
Semantic Scholar
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
M. T. Ricci, L. Pennese, V. Gismondi, C. Perfumo +4 more
2013European Journal of Human Genetics7 citations Open access
Semantic Scholar
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
F. D. Bricarelli, M. Pierluigi, L. Perroni, M. Grasso +2 more
1988Human Genetics7 citations
Semantic Scholar
Workload measurement for molecular genetics laboratory: A survey study
E. Tagliafico, I. Bernardis, M. Grasso, M. D'Apice +14 more
2018PLoS ONE6 citations Open access
Semantic Scholar
Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.
Giorgio Filippi, Araxy Arslanian, Franca Dagna-Bricarelli, Mauro Pierluigi +4 more
1991American journal of medical genetics6 citations
Semantic Scholar
Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.
M. Grasso, L. Perroni, S. Colella, Giuseppe Piombo +6 more
1996American journal of medical genetics4 citations
Semantic Scholar
Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome
F. Nicita, L. Tarani, A. Spalice, M. Grasso +5 more
2011Journal Genetika2 citations
Semantic Scholar
Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.
M. Grasso, Lucia Perroni, Franca Dagna-Bricarelli, A. Rinaldi +3 more
1996American journal of medical genetics2 citations
Semantic Scholar
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
M. Grasso, M. Cecconi, S. Boni, F. Forzano +5 more
2010Molecular and Cellular Probes1 citations
Semantic Scholar
World Englishes and the Challenge of Teaching Phonetics and Phonology at Higher Education Levels
M. Grasso, Daniel J. Martino
20190 citations
Semantic Scholar
The role for fragile x premutation in essential tremor and spinocerebellar ataxia: findings from two cohorts of Italian patients.
E. Di Maria, M. Grasso, G. Abbruzzese, P. Barone +9 more
20040 citations
Semantic Scholar
Combined molecular and cytogenetic analysis for the rapid diagnosis of fragile X syndrome.
C. B. Mastellone, M. L. Giovannucci Uzielli, M. Grasso, Pietro Chiurazzi +2 more
1996Acta geneticae medicae et gemellologiae0 citations Open access
Semantic Scholar
[Monosomy 22pter-22q11.2 with monosomy 10q26.2-10qter without Di George syndrome].
A. Arslanian, G. Veneziano, M. Grasso, A. Brugo +1 more
1985Pathologica0 citations
Semantic Scholar

Frequent co-authors

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L. Perroni×11
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L. Perroni — researcher profile on SciRah
F. D. Bricarelli×11
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F. D. Bricarelli — researcher profile on SciRah
F. Faravelli×10
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F. Faravelli — researcher profile on SciRah
M. Cecconi×10
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M. Cecconi — researcher profile on SciRah

×5

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C. L. Nigro — researcher profile on SciRah

C. Pantaleoni×5

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F. Forzano — researcher profile on SciRah

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S. Cavani — researcher profile on SciRah

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D. Coviello — researcher profile on SciRah

Mauro Pierluigi×5

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B. Oostra — researcher profile on SciRah

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C. Baldo — researcher profile on SciRah