A5024106603- Genomics and Rare Diseases
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Liver Disease Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Peptidase Inhibition and Analysis
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Nutritional Studies and Diet
- RNA and protein synthesis mechanisms
- Cancer Genomics and Diagnostics
- Cardiac Structural Anomalies and Repair
- Congenital Diaphragmatic Hernia Studies
- Genetic Syndromes and Imprinting
- Vascular Anomalies and Treatments
- Statistical Methods in Clinical Trials
- Lysosomal Storage Disorders Research
- Transport and Logistics Innovations
- Congenital heart defects research
- Genetic Associations and Epidemiology
- Ultrasound and Hyperthermia Applications
- Complement system in diseases
- Blood Coagulation and Thrombosis Mechanisms
- Protease and Inhibitor Mechanisms
Emory University
2008-2025
CS Diagnostics
2023-2024
Centogene (Germany)
2016-2019
Bucharest Emergency University Hospital
2019
Clinical Emergency Hospital Bucharest
2011-2019
University of Cologne
2003-2008
The Ohio State University
2008
University of Bonn
2003
Homozygous deletion of the survival motor neuron 1 gene ( SMN1 ) causes spinal muscular atrophy (SMA), most frequent genetic cause early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying same mutations as their affected siblings, thereby suggesting influence modifier genes. We discovered that unaffected -deleted females exhibit significantly higher expression plastin 3 PLS3 than SMA-affected counterparts. demonstrated is important for axonogenesis...
The ability to discover genetic variants in a patient runs far ahead of the interpret them. Databases with accurate descriptions causal relationship between and phenotype are valuable since these critical tools clinical diagnostics. Here, we introduce comprehensive global genotype-phenotype database focusing on rare diseases.This (CentoMD ®) is browser-based tool that enables access comprehensive, independently curated system utilizing stringent high-quality criteria quickly growing...
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de novo mutations in neuronally expressed genes are common scenario. These can be best identified exome sequencing of parent-offspring trios. De the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding Gβ1 subunit heterotrimeric G proteins,...
Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delayed speech language development, or ID according to Human Phenotype Ontology (HPO) terms. All had previously undergone whole exome as part diagnostic genetic testing focus in genes implicated disorders up January 2017. This resulted diagnosis 1336 the...
Next-generation sequencing (NGS) is rapidly replacing Sanger in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying parallel. Utilizing this strategy, we aimed at optimizing exome (ES)-based diagnostics a clinically diverse patient population.Consecutive DNA samples unrelated patients with suspected disease were exome-sequenced; comparatively nonstringent criteria applied variant calling. One thousand forty-eight...
Abstract The purpose of this study is to determine whether esophageal varices (EV) can be identified through the evaluation spleen stiffness (SSM) via acoustic radiation force impulse (ARFI). A total 135 patients suffering from cirrhosis underwent a clinical exam, laboratory tests, abdominal ultrasound, liver (LSM) measurement, SSM and upper gastrointestinal endoscopy. Based on endoscopy results, were classified into three groups: those with no evident EV, small EV needing treatment (VNT)....
Abstract The ADAT2/ADAT3 (ADAT) complex catalyzes the adenosine to inosine modification at wobble position of eukaryotic tRNAs. Mutations in ADAT3, catalytically inactive subunit complex, have been identified patients presenting with severe neurodevelopmental disorders. Yet, physiological function during brain development remains totally unknown. Here, we investigated role cortical development. First, reported 21 disorders carrying biallelic variants ADAT3. Second, used structural,...
The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants tRNA-modification enzymes have been implicated wide range human neurodevelopmental neurological disorders. However, the molecular basis for many these disorders remains unknown. Here, we describe comprehensive cohort 43 individuals from 31 unrelated families with bi-allelic methyltransferase 1 (TRMT1). These present disorder universally characterized by developmental delay...
Studies on genomic secondary findings (SFs) are diverse in participants’ characteristics, sequencing methods, and versions of the ACMG SF list. Based whole genome version 3.1 list, we studied SFs 863 individuals from five different regions Pakistan. We identified 24 23 (2.7%) individuals: 18 were related to cardiovascular disease four cancer syndromes. In addition SFs, 16 (1.9%) participants with pathogenic likely variants genes that not clinical conditions but clear medical actionability...
Biological material from the oral cavity is an excellent source of samples for genetic diagnostics. This because collection quick, easy-to-access, and non-invasive. We have set-up clinical whole genome sequence testing patients with suspected hereditary disease. Beside quality human DNA that can be isolated such samples, we observed presence non-human sequences at varying percentages. investigated proportion mapped reads (NHMR) sequenced buccal swabs saliva, type microbial genomes which they...
Abstract The post-transcriptional modification of tRNAs plays a key role in tRNA folding and function to ensure proper levels protein synthesis during growth development. Pathogenic variants enzymes have been implicated diverse human neurodevelopmental neurological disorders. However, the molecular basis for many these disorders remains unknown, thereby limiting our understanding potential treatment pathologies linked modification. Here, we describe an extensive cohort 31 individuals from 24...
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 2, which are involved in ribosomal homeostasis. Pathogenic variants were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked GTPBP1. Here, we describe individuals carrying bi-allelic that display identical with characterize the overall spectrum protein (1/2)-related disorders. In this study, 20 from 16 families distinct NDDs...
Bartos, D.; Badila, E.; Oprea, G.; Ghiorghe, S.; Lungu, R.; Hostiuc, M.; Nastac, A. Author Information
Abstract Hydrocephalus and Dandy–Walker malformation are amongst the most common congenital brain anomalies. We identified three consanguineous families with both obstructive hydrocephalus malformation. To understand molecular basis of these anomalies, we conducted genome-wide sequencing in families. homozygous truncating variants PLAT gene four affected family members. All them showed tetraventricular hydrocephalus. In two individuals, a membrane at inferior aspect fourth ventricle was...
Abstract Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents clinical molecular details of third fourth reported patients with biallelic variants in MYMX , gene that encodes Myomixer. We identified a homozygous truncating variant [c.107 T > A (p.Leu36Ter)] stop-codon loss [c.255 G (p.Ter85TrpextTer41)] both associated complex neuromuscular syndrome...
Dorobantu, M.; Bartos, D.; Badila, E.; Oprea, G.; Ghiorghe, S.; Lungu, R.; Hostiuc, Nastac, A. Author Information