| # | Title | Journal | Year | Citations |
|---|
| 1 | Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families | Blood | 2011 | 263 |
| 2 | EXCAVATOR: detecting copy number variants from whole-exome sequencing data | Genome Biology | 2013 | 213 |
| 3 | Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 | American Journal of Human Genetics | 2011 | 200 |
| 4 | Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy | Annals of Neurology | 2016 | 190 |
| 5 | MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations | Human Mutation | 2014 | 154 |
| 6 | Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes | American Journal of Human Genetics | 2016 | 146 |
| 7 | ANKRD26-related thrombocytopenia and myeloid malignancies | Blood | 2013 | 145 |
| 8 | A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3 | Human Mutation | 2018 | 116 |
| 9 | Inherited thrombocytopenias frequently diagnosed in adults | Journal of Thrombosis and Haemostasis | 2013 | 87 |
| 10 | Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study | Frontiers in Neurology | 2018 | 64 |
| 11 | HmtVar: a new resource for human mitochondrial variations and pathogenicity data | Nucleic Acids Research | 2019 | 58 |
| 12 | HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor | Nucleic Acids Research | 2017 | 52 |
| 13 | Narcolepsy is a common phenotype in HSAN IE and ADCA-DN | Brain | 2014 | 49 |
| 14 | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis | American Journal of Human Genetics | 2019 | 48 |
| 15 | Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum | American Journal of Human Genetics | 2020 | 48 |
| 16 | BRAF V600E and risk stratification of thyroid microcarcinoma: a multicenter pathological and clinical study | Modern Pathology | 2015 | 47 |
| 17 | Synergistic Effect of Mitochondrial and Lysosomal Dysfunction in Parkinson’s Disease | Cells | 2019 | 43 |
| 18 | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome | Genetics in Medicine | 2020 | 41 |
| 19 | The KIT Gene Is Associated with the English Spotting Coat Color Locus and Congenital Megacolon in Checkered Giant Rabbits (Oryctolagus cuniculus) | PLoS ONE | 2014 | 41 |
| 20 | FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype | Developmental Medicine and Child Neurology | 2011 | 39 |
| 21 | Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts | Journal of Medical Genetics | 2018 | 39 |
| 22 | Genetics of human enteric neuropathies | Progress in Neurobiology | 2012 | 36 |
| 23 | 5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia | Journal of Hematology and Oncology | 2017 | 33 |
| 24 | Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione | Oncotarget | 2017 | 32 |
| 25 | Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α | Cell Death and Disease | 2013 | 31 |
| 26 | Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 | Human Genetics | 2016 | 29 |
| 27 | XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments | BMC Genomics | 2017 | 29 |
| 28 | Anoctamin 1 is Apically Expressed on Thyroid Follicular Cells and Contributes to ATP- and Calcium-Activated Iodide Efflux | Cellular Physiology and Biochemistry | 2014 | 28 |
| 29 | Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy | Nephrology Dialysis Transplantation | 2014 | 28 |
| 30 | Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 | Molecular Genetics & Genomic Medicine | 2019 | 28 |
| 31 | EX-HOM (EXome HOMozygosity): A Proof of Principle | Human Heredity | 2011 | 27 |
| 32 | Messenger RNA processing is altered in autosomal dominant leukodystrophy | Human Molecular Genetics | 2015 | 27 |
| 33 | Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases | Genomics | 2017 | 27 |
| 34 | Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients | European Journal of Human Genetics | 2018 | 26 |
| 35 | A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma | Oncotarget | 2016 | 25 |
| 36 | Perchlorate transport and inhibition of the sodium iodide symporter measured with the yellow fluorescent protein variant YFP-H148Q/I152L | Toxicology and Applied Pharmacology | 2010 | 24 |
| 37 | Characterization and identification of hidden rare variants in the human genome | BMC Genomics | 2015 | 24 |
| 38 | Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis | Human Reproduction | 2017 | 24 |
| 39 | Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism | Frontiers in Neurology | 2019 | 24 |
| 40 | Intracellular anion fluorescence assay for sodium/iodide symporter substrates | Analytical Biochemistry | 2011 | 23 |
| 41 | A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype | Epilepsia | 2013 | 23 |
| 42 | A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme | International Journal of Biochemistry and Cell Biology | 2015 | 22 |
| 43 | PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy | Annals of Clinical and Translational Neurology | 2015 | 21 |
| 44 | A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman | Journal of Human Genetics | 2017 | 21 |
| 45 | T[20] repeat in the 3′-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer | International Journal of Colorectal Disease | 2012 | 20 |
| 46 | Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis | Journal of Dermatological Science | 2018 | 20 |
| 47 | ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia | British Journal of Haematology | 2018 | 16 |
| 48 | New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer | American Journal of Medical Genetics, Part A | 2016 | 15 |
| 49 | One-carbon pathway and cognitive skills in children with Down syndrome | Scientific Reports | 2021 | 15 |
| 50 | Prenatal diagnosis of Simpson–Golabi–Behmel syndrome | American Journal of Medical Genetics, Part A | 2016 | 14 |
