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Top Articles

#TitleJournalYearCitations
1Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort ofKabuki Syndrome PatientsHuman Mutation201487
2Towards a European consensus for reporting incidental findings during clinical NGS testingEuropean Journal of Human Genetics201585
3Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumourHuman Molecular Genetics200876
4A current approach to heart failure in Duchenne muscular dystrophyHeart201775
5MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer199850
6BRCA1-Related Malignancies in a Family Presenting with von Recklinghausen's DiseaseGynecologic Oncology200239
7Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationHuman Mutation201539
8Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1Intensive Care Medicine200633
9Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experienceJournal of the Neurological Sciences201432
10Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2European Journal of Human Genetics199931
11A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndromeClinical Genetics201027
12Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predispositionJournal of Experimental and Clinical Cancer Research201519
13Lim Mineralization Protein 3 Induces the Osteogenic Differentiation of Human Amniotic Fluid Stromal Cells through Kruppel-Like Factor-4 Downregulation and Further Bone-Specific Gene ExpressionJournal of Biomedicine and Biotechnology201216
14Bradeion ( SEPT4 ) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene ExpressionJournal of Urology201210
15Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletionAmerican Journal of Medical Genetics, Part A20128
16Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literatureNeurological Sciences20136
17Excitatory amino acid stimulation of the survival of rat cerebellar granule cells in culture is associated with an increase in SMN, the spinal muscular atrophy disease gene productAmino Acids20001
18The Intestinal Polyposes: Clinical and Molecular Overview20160