| # | Title | Journal | Year | Citations |
|---|
| 1 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia | Nature | 2022 | 929 |
| 2 | Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans | Nature Genetics | 2003 | 375 |
| 3 | The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues | European Journal of Human Genetics | 2006 | 137 |
| 4 | Role of carnitine and its derivatives in the development and management of type 2 diabetes | Nutrition and Diabetes | 2018 | 121 |
| 5 | Knobloch syndrome: Novel mutations inCOL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin | Human Mutation | 2004 | 89 |
| 6 | Towards a European consensus for reporting incidental findings during clinical NGS testing | European Journal of Human Genetics | 2015 | 85 |
| 7 | Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs | Molecular Genetics and Metabolism | 2015 | 69 |
| 8 | Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | European Journal of Human Genetics | 2013 | 64 |
| 9 | Variants of the IL23R Gene are Associated with Ankylosing Spondylitis but not with Sjögren Syndrome in Hungarian Population Samples | Scandinavian Journal of Immunology | 2009 | 61 |
| 10 | Complete molecular genome analyses of equine rotavirus A strains from different continents reveal several novel genotypes and a largely conserved genotype constellation | Journal of General Virology | 2012 | 56 |
| 11 | Similarities in Serum Acylcarnitine Patterns in Type 1 and Type 2 Diabetes Mellitus and in Metabolic Syndrome | Annals of Nutrition and Metabolism | 2013 | 48 |
| 12 | Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152 | Forensic Science International: Genetics | 2011 | 47 |
| 13 | Evaluation of a Partial Genome Screening of Two Asthma Susceptibility Regions Using Bayesian Network Based Bayesian Multilevel Analysis of Relevance | PLoS ONE | 2012 | 47 |
| 14 | Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients | World Journal of Gastroenterology | 2010 | 46 |
| 15 | Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study | Lancet Neurology, The | 2020 | 41 |
| 16 | Investigation of JAK2, STAT3 and CCR6 polymorphisms and their gene–gene interactions in inflammatory bowel disease | International Journal of Immunogenetics | 2012 | 40 |
| 17 | On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3 | Brain Pathology | 2017 | 36 |
| 18 | Detection and characterization of a divergent avian reovirus strain from a broiler chicken with central nervous system disease | Archives of Virology | 2013 | 34 |
| 19 | Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias | Journal of Neurology | 2018 | 34 |
| 20 | Genetic Variability and Haplotype Profile of MDR1 (ABCB1) in Roma and Hungarian Population Samples with a Review of the Literature | Drug Metabolism and Pharmacokinetics | 2011 | 33 |
| 21 | Hailey-Hailey disease as an orthodisease of PMR1 deficiency inSaccharomyces cerevisiae | FEBS Letters | 2005 | 32 |
| 22 | Interethnic differences of CYP2C9 alleles in healthy Hungarian and Roma population samples: Relationship to worldwide allelic frequencies | Blood Cells, Molecules, and Diseases | 2009 | 32 |
| 23 | Functional Variants of the Interleukin-23 Receptor Gene in Non-Gastrointestinal Autoimmune Diseases | Current Medicinal Chemistry | 2009 | 29 |
| 24 | Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn’s disease and psoriasis | Inflammation Research | 2013 | 27 |
| 25 | Spinocerebellar Ataxia Type 2 (SCA2): Identification of Early Brain Degeneration in One Monozygous Twin in the Initial Disease Stage | Cerebellum | 2011 | 26 |
| 26 | A Polymorphism within the Fructosamine-3-kinase Gene is Associated with HbA1c Levels and the Onset of Type 2 Diabetes Mellitus | Experimental and Clinical Endocrinology and Diabetes | 2010 | 25 |
| 27 | Detection of novel porcine bocaviruses in fecal samples of asymptomatic pigs in Cameroon | Infection, Genetics and Evolution | 2013 | 25 |
| 28 | The Undiagnosed Diseases Network International: Five years and more! | Molecular Genetics and Metabolism | 2020 | 25 |
| 29 | Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype | American Journal of Medical Genetics, Part A | 2017 | 24 |
| 30 | Initiating an undiagnosed diseases program in the Western Australian public health system | Orphanet Journal of Rare Diseases | 2017 | 24 |
| 31 | DNA profiling of Hungarian King Béla III and other skeletal remains originating from the Royal Basilica of Székesfehérvár | Archaeological and Anthropological Sciences | 2019 | 24 |
| 32 | Functional Variants of Glucokinase Regulatory Protein and Apolipoprotein A5 Genes in Ischemic Stroke | Journal of Molecular Neuroscience | 2010 | 22 |
| 33 | Polymorphisms of the IL23R Gene Are Associated with Psoriasis but not with Immunoglobulin A Nephropathy in a Hungarian Population | Inflammation | 2011 | 22 |
| 34 | High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature | Molecular Biology Reports | 2013 | 22 |
| 35 | Assessment of DNA methylation at the interferon regulatory factor 5 (IRF5) promoter region in inflammatory bowel diseases | International Journal of Colorectal Disease | 2010 | 19 |
| 36 | Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients | Pediatric Obesity | 2011 | 19 |
| 37 | Rett networked database: An integrated clinical and genetic network of rett syndrome databases | Human Mutation | 2012 | 19 |
| 38 | Cardiac Arrest in Kearns–Sayre Syndrome | JIMD Reports | 2011 | 18 |
| 39 | Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn’s disease and ankylosing spondylitis | Molecular Biology Reports | 2013 | 18 |
| 40 | Infantile hemangiomas and retinopathy of prematurity: clues to the regulation of vasculogenesis | European Journal of Pediatrics | 2013 | 17 |
| 41 | Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy | Neuromuscular Disorders | 2014 | 17 |
| 42 | MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin | PLoS ONE | 2015 | 17 |
| 43 | Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients | Inflammation Research | 2010 | 16 |
| 44 | Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke | European Journal of Neurology | 2010 | 16 |
| 45 | Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2) | Neuropathology and Applied Neurobiology | 2013 | 16 |
| 46 | Triglyceride Level Affecting Shared Susceptibility Genes in Metabolic Syndrome and Coronary Artery Disease | Current Medicinal Chemistry | 2010 | 15 |
| 47 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations | Journal of Human Genetics | 2011 | 15 |
| 48 | The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome | Clinical Genetics | 2016 | 15 |
| 49 | Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis | Current Molecular Medicine | 2020 | 15 |
| 50 | Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees | NeuroMolecular Medicine | 2010 | 14 |
