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#	Title	Journal	Year	Citations
1	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies	Nature Genetics	2010	445
2	Genetic Structure of Europeans: A View from the North–East	PLoS ONE	2009	279
3	Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease	Human Mutation	2008	172
4	Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies	Nature Genetics	2011	148
5	Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways	Cell Death and Disease	2015	107
6	Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder	Thrombosis and Haemostasis	2010	81
7	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype	European Journal of Human Genetics	2010	71
8	Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways	Journal of Medical Genetics	2011	71
9	Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity	European Journal of Human Genetics	2013	64
10	Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations	Nature Communications	2017	64
11	Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations	Haematologica	2007	53
12	Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion	Brain	2016	51
13	Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations	Journal of Medical Genetics	2007	47
14	Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?	European Journal of Human Genetics	2009	35
15	Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological	British Journal of Haematology	2012	33
16	MYH9 related disease: four novel mutations of the tail domain of myosin‐9 correlating with a mild clinical phenotype	European Journal of Haematology	2010	32
17	Salt-inducible kinase 3, SIK3, is a new gene associated with hearing	Human Molecular Genetics	2014	30
18	Molecular epidemiology of Usher syndrome in Italy	Molecular Vision	2011	27
19	A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia	Leukemia	2007	21
20	Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant	Orphanet Journal of Rare Diseases	2013	21
21	Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate	Human Mutation	2010	19
22	Age-related hearing loss in four Italian genetic isolates: An epidemiological study	International Journal of Audiology	2009	17
23	Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci	Molecular Psychiatry	2020	17
24	Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene	European Journal of Medical Genetics	2009	16
25	Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road	Audiological Medicine	2011	15
26	Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population	European Journal of Human Genetics	2011	13
27	MYH9related disease: A novel missense Ala95Asp mutation of theMYH9gene	Platelets	2009	10
28	ACASQ1founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia	Journal of Medical Genetics	2015	10
29	Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans	PLoS ONE	2013	9
30	MYH9-related disease: Report on five German families and description of a novel mutation	Annals of Hematology	2010	8
31	Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate	European Journal of Oral Sciences	2008	4
32	Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin	Platelets	2009	4
33	Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study	Molecular Genetics & Genomic Medicine	2021	2

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