A5015687085- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Religious, Philosophical, and Educational Studies
- Genetics and Neurodevelopmental Disorders
- Linguistics and language evolution
- Cancer Genomics and Diagnostics
- Cardiomyopathy and Myosin Studies
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Genetic factors in colorectal cancer
- Byzantine Studies and History
- RNA modifications and cancer
- Eastern European Communism and Reforms
- Sarcoidosis and Beryllium Toxicity Research
- Neurogenetic and Muscular Disorders Research
- Ovarian function and disorders
- Classical Antiquity Studies
- Prenatal Screening and Diagnostics
- Reproductive System and Pregnancy
- Genetic Neurodegenerative Diseases
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
- Multiple Sclerosis Research Studies
- Cardiovascular Effects of Exercise
- Epigenetics and DNA Methylation
Ljubljana University Medical Centre
2016-2025
University of Ljubljana
2015-2025
University of Maribor
2011-2024
University Medical Center
2022-2024
Royal Historical Society
2021-2022
Institute for Water of the Republic of Slovenia
2022
Ministry of Culture of the Republic of Croatia
2022
University of Udine
2022
University of Tübingen
2017-2021
Mikroelektronika (Czechia)
2021
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
<h3>Objective:</h3> To examine whether gene expression analysis of a large-scale Parkinson disease (PD) patient cohort produces robust blood-based PD signature compared to previous studies that have used relatively small cohorts (≤220 samples). <h3>Methods:</h3> Whole-blood profiles were collected from total 523 individuals. After preprocessing, the data contained 486 (n = 205 PD, n 233 controls, 48 other neurodegenerative diseases) partitioned into training, validation, and independent test...
Dysfunction of motile monocilia, altering the leftward flow at embryonic node essential for determination left-right body asymmetry, is a major cause laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple cilia airway and responsible destructive disease. Outer dynein arms (ODAs) ciliary beat generation, human respiratory contain different ODA heavy chains (HCs): panaxonemally distributed γ-HC DNAH5, proximally located...
Objective Voltage‐gated sodium (Na + ) channels underlie action potential generation and propagation hence are central to the regulation of excitability in nervous system. Mutations genes SCN1A, SCN2A , SCN8A encoding Na channel pore‐forming (α) subunits Nav1.1, 1.2, 1.6, respectively, SCN1B accessory subunit β 1 established causes genetic epilepsies. SCN3A Nav1.3, is known be highly expressed brain, but has not previously been linked early infantile epileptic encephalopathy. Here, we...
Background: Preterm delivery (PTD) represents an important public health and therapeutic challenge. Despite the reported link between composition of vaginal microbiome PTD, previous studies were inconsistent in their conclusions utilized non-uniform designs. We performed independent case-control study carried out on Slovenian population, where we re-evaluated role PTD. Methods: Vaginal microbiomes pregnant women who delivered preterm compared to those at term examine differences microbial...
Abstract According to a rough estimate, one in fifteen people worldwide is affected by rare disease. Rare diseases are therefore common clinical practice; however, timely diagnosis of still challenging. Introduction novel methods based on next-generation sequencing (NGS) technology offers successful genetically heterogeneous disorders, even case unclear diagnostic hypothesis. However, the application differs among centres and health systems significantly. Our goal discuss impact...
The genetic etiology and the contribution of rare variation in multiple sclerosis (MS) has not yet been elucidated. Although familial forms MS have described, no convincing penetrant variants reported to date. We aimed characterize sporadic identified a family with two sibs affected by concomitant malignant melanoma (MM). performed whole exome sequencing this primary 38 multiplex families 44 cases transcriptional immunologic assessment variants. potentially causative homozygous missense...
Although genetic revolution of recent years has vastly expanded a list genes implicated in epilepsies, complex architecture epilepsy genetics is still largely unknown, consequently, universally accepted workflows for testing clinical practice are missing. We present comprehensive NGS‐based diagnostic approach addressing both the and heterogeneity disorders involving or seizures. A bioinformatic panel 862 epilepsy‐ seizure‐associated was applied to Mendeliome (4813 genes) whole‐exome...
Prevalence of multiple sclerosis varies with geographic latitude. We hypothesized that this fact might be partially associated the influence latitude on circadian rhythm and consequently genetic variability key regulators, ARNTL CLOCK genes, contribute to risk for sclerosis. Our aim was analyse selected polymorphisms CLOCK, their association A total 900 Caucasian patients 1024 healthy controls were compared signature at 8 SNPs, 4 each both genes. found a statistically significant difference...
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1-2 per 1000 newborns, and has genetic etiology in over 50% cases. It occurs either as part syndrome or isolation genetically very heterogeneous which poses challenge for clinical molecular diagnosis. We used exome sequencing to seek cause group 56 subjects (49 probands) HL: 32 non-syndromic non-GJB2 HL 17 syndromic HL. Following examination sequencing, etiological diagnosis was established 15 probands (15/49;...
Abstract The role of rare genetic variation and the innate immune system in etiology multiple sclerosis (MS) is being increasingly recognized. Recently, we described several variants NLRP1 gene, presumably conveying an increased risk for familial MS. In present study aimed to assess inflammasome regulatory network. We performed whole exome sequencing 319 probands, comprising patients with MS, sporadic MS control subjects. 62 genes involved NLRP1/NLRP3 regulation were screened potentially...
The circadian system has a major role in maintaining homeostasis and proper body functions including reproductive capacity. aim of this study was to examine whether there is an association between genetic variability the primary clock genes CLOCK ARNTL male infertility humans.We performed case-control study, where we searched for polymorphisms 961 Slovenian Serbian Caucasian men. group consisted 517 patients with idiopathic control 444 fertile A statistically significant difference found...
Clinical exome sequencing is currently being used in diagnostics of various genetic disorders, but studies supporting its application clinical setting are scarce. The aim this study was to establish diagnostic and utility patients with moderate severe global developmental delay/intellectual disability. diagnosis made 49 88 investigated patients, overall yield 55.7%. Molecular findings characterized detail, including the impact newly on management. Several previously unreported...
The etiology of preterm birth (PTB) is heterogeneous and not yet well known. Maternal periodontal disease has been investigated for decades a known risk factor adverse pregnancy outcomes. However, no particular bacterial species or higher taxonomic order found as causative PTB, leading to studies the whole oral microbiome. In determine if how composition microbiome associated with we performed large case-control study including women term (TB) PTB.We compared microbiomes in PTB TB, examine...
Abstract Background Titin truncating variants ( TTN tv-s) are the most common genetic cause of dilated cardiomyopathy (DCM). Only rare tv-s in constitutively expressed exons A-band protein titin associated with DCM according to guidelines, however, studies large cohorts patients suggest that region where is wider, extending at least into I-band. The aim this study was describe molecular pathology Slovenian and clinically characterise recurrent tv. Results We collected all identified using...
In human IVF procedures objective and reliable biomarkers of oocyte embryo quality are needed in order to increase the use single transfer (SET) thus prevent multiple pregnancies. During folliculogenesis there is an intense bi-directional communication between follicular cells. For this reason gene expression profile cells could be important indicator biomarker quality. The study was identify signature(s) granulosa (GC) cumulus (CC) predictive successful implantation fertilization. Forty-one...
Dementias are clinically and genetically heterogeneous group of neurodegenerative disorders. Often, dementias with genetic etiology indistinguishable from non-genetic ones. The aim this retrospective study was to evaluate the yield clinical exome sequencing in dementias, potentially associated monogenic predisposition.For purpose 20 consecutive patients younger than 65 years were studied period January 2014 December 2017; 14 diagnosis Frontotemporal dementia (FTD), 3 early-onset Alzheimer...
Background: The study presents a detailed examination and follow-up of Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype bilateral optic neuropathy in whom genetic analysis identified novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide the clinical examinations male from acute stage to 8 years follow-up. Complete ophthalmological exam, electrophysiology optical coherence tomography (OCT) segmentation were performed. genotype was performed...