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| 37943122 | A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy. | Epilepsia Open | 2024 |
| 38008000 | Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel. | Eur J Paediatr Neurol | 2024 |
| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 36307226 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>. | Neurology | 2023 |
| 37812946 | Genetic testing in children enrolled in epilepsy surgery program. A real-life study. | Eur J Paediatr Neurol | 2023 |
| 36548033 | A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation. | Am J Med Genet A | 2023 |
| 36844206 | A founder <i>COL4A4</i> pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people. | Front Med (Lausanne) | 2023 |
| 36840359 | A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation. | Mol Genet Genomic Med | 2023 |
| 36683559 | A progressive KY myopathy could be caused by a missense pathogenic variant. | Clin Genet | 2023 |
| 36504316 | COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria. | Epilepsia Open | 2023 |
| 34837145 | In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review. | Neurogenetics | 2022 |
| 36324633 | Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study. | Neurol Genet | 2022 |
| 33461085 | GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? | Eur J Paediatr Neurol | 2021 |
| 33590706 | A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy. | Am J Med Genet A | 2021 |
| 34415467 | Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review. | Neurogenetics | 2021 |
| 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. | Am J Hum Genet | 2021 |
| 34174466 | Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant. | Eur J Med Genet | 2021 |
| 32384607 | The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis. | Metabolites | 2020 |
| 31897644 | Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome. | Acta Neuropathol | 2020 |
| 32811771 | Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration. | Eur J Paediatr Neurol | 2020 |
| 31353023 | De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. | Am J Hum Genet | 2019 |
| 31587868 | Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. | Am J Hum Genet | 2019 |
| 29341480 | Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. | Am J Med Genet A | 2018 |
| 29444535 | Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins. | Neuropediatrics | 2018 |
| 29720203 | Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. | Orphanet J Rare Dis | 2018 |
| 29405539 | Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly. | Hum Mutat | 2018 |
| 29790359 | [Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment]. | Cas Lek Cesk | 2018 |
| 29739006 | Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers. | Cytogenet Genome Res | 2018 |
| 29760779 | A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature. | Mol Cytogenet | 2018 |
| 29307790 | Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. | Eur J Med Genet | 2018 |
| 28872899 | Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy. | Genet Test Mol Biomarkers | 2017 |
| 28339176 | Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach. | Autism Res | 2017 |
| 26841933 | Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. | Clin Genet | 2016 |
| 27283035 | Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. | Clin Exp Ophthalmol | 2016 |
| 25348648 | Deletions of 9q21.3 including NTRK2 are associated with severe phenotype. | Am J Med Genet A | 2015 |
| 26370006 | A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. | Eur J Med Genet | 2015 |
| 26173643 | Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. | Hum Mutat | 2015 |
| 25938782 | BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. | J Clin Invest | 2015 |
| 25740848 | HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. | Hum Mol Genet | 2015 |
| 24909117 | Monozygotic twins with 17q21.31 microdeletion syndrome. | Twin Res Hum Genet | 2014 |
| 23266801 | Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. | Gene | 2013 |
| 20969982 | Array comparative genome hybridization in patients with developmental delay: two example cases. | N Biotechnol | 2012 |
| 22271700 | Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases. | Pediatrics | 2012 |
| 22156400 | Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing. | Cytogenet Genome Res | 2012 |
| 20425835 | FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. | Am J Med Genet A | 2010 |
| 18199438 | Pharmaceutical applications of isoelectric focusing on microchip with imaged UV detection. | J Chromatogr A | 2008 |
| 17223116 | Determination of cationic neurotransmitters and metabolites in brain homogenates by microchip electrophoresis and carbon nanotube-modified amperometry. | J Chromatogr A | 2007 |
| 16052664 | Enzymatic sensitivity enhancement of biogenic monoamines on a chip. | Electrophoresis | 2005 |
| 16143979 | Effects of the limited analyte solubility on its mobility and zone shape: electrophoretic behavior of sanguinarine and chelerythrine around pH 7. | Electrophoresis | 2005 |
| 15812846 | Capillary zone electrophoretic studies of interactions of some quaternary isoquinoline alkaloids with DNA constituents and DNA. | Electrophoresis | 2005 |