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G. Melloni · SciRah

Researcher profile · Semantic Scholar

G. Melloni

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G. Melloni — researcher profile on SciRah

h-index: 8
Works: 16
Citations: 671

Most-cited papers

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
F. Couch, Xian-Shu Wang, L. McGuffog, Andrew Lee +259 more
2013PLoS Genetics411 citations Open access
Semantic Scholar
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.
F. Viola, E. Villani, F. Natacci, A. Selicorni +6 more
2012Ophthalmology (Rochester, Minn.)141 citations Open access
Semantic Scholar
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis
C. Cesaretti, G. Melloni, Donatella Quagliarini, R. Fogliani +5 more
2013American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort
G. Melloni, M. Eoli, C. Cesaretti, Donatella Bianchessi +12 more
2019Cancers25 citations Open access
Semantic Scholar
Chiari I malformation in defined genetic syndromes in children: are there common pathways?
V. Saletti, I. Viganò, G. Melloni, C. Pantaleoni +2 more
2019Child's Nervous System19 citations
Semantic Scholar
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
Donatella Bianchessi, M. Ibba, V. Saletti, Stefania Blasa +9 more
2020Genes11 citations Open access
Semantic Scholar
The absence that makes the difference: choroidal abnormalities in Legius syndrome
A. Tucci, V. Saletti, F. Menni, C. Cesaretti +10 more
2017Journal of Human Genetics11 citations
Semantic Scholar
Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations
C. Cesaretti, B. Gentilin, V. Bianchi, G. Melloni +5 more
2011Clinical Dysmorphology10 citations
Semantic Scholar
Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue
F. Natacci, G. Melloni, Francesca Motta, R. Silipigni +4 more
2015Cytogenetic and Genome Research5 citations
Semantic Scholar
Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?
S. Gana, B. Gentilin, V. Bianchi, S. Gorla +3 more
2013Clinical Dysmorphology4 citations
Semantic Scholar
Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome
A. Tucci, V. Saletti, F. Menni, C. Cesaretti +10 more
2018Journal of Human Genetics2 citations Open access
Semantic Scholar
Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases
G. Melloni, M. Bedeschi, C. Cesaretti, D. Milani +5 more
20132 citations
Semantic Scholar
Correlation Between Angular Position and Pathological Changes in Impacted Lower Third Molars: A Systematic Review and Meta-Analysis
S. Kaleci, Pierantonio Bellini, Giacomo Setti, G. Melloni +2 more
2025Dental journal1 citations Open access
Semantic Scholar
The absence that makes the difference: choroidal abnormalities in Legius syndrome
A. Tucci, V. Saletti, F. Menni, C. Cesaretti +10 more
2017Journal of Human Genetics0 citations
Semantic Scholar
P.139 - A novel mutation in FHL1 gene causing hypertrophic cardiomyopathy associated with myopathy
Roberta Petillo, P. D'Ambrosio, C. de Luca, A. Papa +5 more
20170 citations
Semantic Scholar
University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,
F. Couch, Xian-Shu Wang, L. McGuffog, Andrew Lee +179 more
20130 citations
Semantic Scholar

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