| # | Title | Journal | Year | Citations |
|---|
| 1 | A genome-wide association study of anorexia nervosa | Molecular Psychiatry | 2014 | 282 |
| 2 | Mitochondrial dysfunction in inherited renal disease and acute kidney injury | Nature Reviews Nephrology | 2016 | 276 |
| 3 | p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas | European Journal of Human Genetics | 2015 | 113 |
| 4 | A novel CRYAB mutation resulting in multisystemic disease | Neuromuscular Disorders | 2012 | 84 |
| 5 | Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 83 |
| 6 | Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 72 |
| 7 | Prevalence, characteristics, and survival of children with esophageal atresia: A 32‐year population‐based study including 1,417,724 consecutive newborns | Birth Defects Research Part A: Clinical and Molecular Teratology | 2016 | 66 |
| 8 | Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 61 |
| 9 | Expanding the mutational spectrum of LZTR1 in schwannomatosis | European Journal of Human Genetics | 2015 | 58 |
| 10 | In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy | Autophagy | 2018 | 51 |
| 11 | Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function | Human Mutation | 2018 | 43 |
| 12 | Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure | European Journal of Human Genetics | 2015 | 42 |
| 13 | Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations | Orphanet Journal of Rare Diseases | 2017 | 39 |
| 14 | Molecular diagnosis of coenzyme Q10 deficiency: an update | Expert Review of Molecular Diagnostics | 2018 | 33 |
| 15 | Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 31 |
| 16 | Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations | Journal of Biological Chemistry | 2009 | 30 |
| 17 | No Difference in 5-HTTLPR and Stin2 Polymorphisms Frequency Between Premature Ejaculation Patients and Controls | Journal of Sexual Medicine | 2012 | 28 |
| 18 | Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 27 |
| 19 | A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents | Genetics in Medicine | 2010 | 26 |
| 20 | Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 26 |
| 21 | The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas | Molecular Genetics & Genomic Medicine | 2019 | 26 |
| 22 | Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies | World Journal of Biological Psychiatry | 2016 | 24 |
| 23 | Migraine therapy during pregnancy and lactation | Expert Opinion on Drug Safety | 2010 | 23 |
| 24 | Functional Analysis of Missense Mutations ofOAT, Causing Gyrate Atrophy of Choroid and Retina | Human Mutation | 2013 | 23 |
| 25 | Clinical and genetic correlates of decision making in anorexia nervosa | Journal of Clinical and Experimental Neuropsychology | 2016 | 22 |
| 26 | Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma | Acta Ophthalmologica | 2018 | 22 |
| 27 | A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome | European Journal of Human Genetics | 2017 | 20 |
| 28 | Tana1, a new putatively active Tc1-like transposable element in the genome of sturgeons | Molecular Phylogenetics and Evolution | 2013 | 17 |
| 29 | Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content | European Journal of Human Genetics | 2016 | 17 |
| 30 | Molecular diagnosis of coenzyme Q10deficiency | Expert Review of Molecular Diagnostics | 2015 | 16 |
| 31 | Is CFTR 621+3 A>G a cystic fibrosis causing mutation? | Journal of Human Genetics | 2010 | 14 |
| 32 | Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration | Ophthalmology Retina | 2018 | 14 |
| 33 | CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis | European Journal of Neurology | 2012 | 9 |
| 34 | Is there a link between COQ6 and schwannomatosis? | Genetics in Medicine | 2015 | 7 |
| 35 | RETINAL VASCULAR ABNORMALITIES RELATED TO NEUROFIBROMATOSIS TYPE 1 | Retina | 2021 | 7 |
| 36 | 6q27 subtelomeric deletions: Is there a specific phenotype? | American Journal of Medical Genetics, Part A | 2011 | 6 |
| 37 | Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 6 |
| 38 | High‐Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Journal of Clinical Laboratory Analysis | 2014 | 2 |
| 39 | P3.52 Risk of dysrythmic cardiomyopathy may be considered in patients with adult onset Pompe diasease | Neuromuscular Disorders | 2011 | 0 |
| 40 | Response to: Papetti et al., “The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome” | American Journal of Medical Genetics, Part A | 2016 | 0 |
| 41 | P0084DIGENIC INHERITANCE: TWO RARE CASES OF GITELMAN SYNDROME | Nephrology Dialysis Transplantation | 2020 | 0 |
