Skip to Main Content

Author Details

Mariya Kozenko
2010
18
10
PMIDPaper TitleJournal TitlePublished Year
35980381Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.Genet Med2022
32532876A recurrent de novo variant is associated with hypomyelinating leukodystrophy.Cold Spring Harbor molecular case studies2020
31684799Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.Journal of Child Neurology2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
32109418Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.Am J Hum Genet2020
31820119Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.Acta Neuropathol2020
30929737Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.Am J Hum Genet2019
31585108Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.Am J Hum Genet2019
31282308Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.Journal of Child Neurology2019
29861108De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.Am J Hum Genet2018
30500825De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.PLoS Genet2018
30290151A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.Am J Hum Genet2018
27014572Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease.Molecular Genetics and Metabolism Reports2016
26483087Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?Pediatric Neurology2015
24504995Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).Biochemical Genetics2014
23561849Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.Am J Hum Genet2013
21815259Potential teratogenic effects of allopurinol: a case report.American Journal of Medical Genetics, Part A2011
20095984Genetic implications and health consequences following the Chernobyl nuclear accident.Clinical Genetics2010
  • 1 - 18 of 18

Recommended Authors

Collaborators

Co-authored papers 9
Co-authored papers 3
Co-authored papers 3
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
University of Minnesota
Co-authored papers 2
Vanderbilt University Medical Center
Co-authored papers 2
Vanderbilt University Medical Center
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2