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Mariya Kozenko

Observed names: Kozenko, Mariya, M Kozenko, M. Kozenko, Mariya A Kozenko, Maryia Kozenko
OpenAlex ID: A5087907468
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020 · Erfan Aref-Eshghi, Jennifer Kerkhof, et al. · The American Journal of Human Genetics · 333
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
2019 · Erfan Aref-Eshghi, Eric G. Bend, et al. · The American Journal of Human Genetics · 201
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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
2013 · Bobby G. Ng, Kati J. Buckingham, et al. · The American Journal of Human Genetics · 133
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
2018 · Carlos R. Ferreira, Zhi-Jie Xia, et al. · The American Journal of Human Genetics · 76
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Loss 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
2019 · Elena Perenthaler, Anita Nikoncuk, et al. · Acta Neuropathologica · 70
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
2018 · Margot R.F. Reijnders, Kerry A. Miller, et al. · The American Journal of Human Genetics · 43
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2021 · Erfan Aref-Eshghi, Jennifer Kerkhof, et al. · The American Journal of Human Genetics · 35
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 · Susan M. Hiatt, Matthew B. Neu, et al. · PLoS Genetics · 34
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Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder?
2015 · Ilana Hanes, Mariya Kozenko, et al. · Pediatric Neurology · 30
Potential teratogenic effects of allopurinol: A case report
2011 · Mariya Kozenko, David Grynspan, et al. · American Journal of Medical Genetics Part A · 30
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
2019 · Sangmoon Lee, Dillon Y. Chen, et al. · The American Journal of Human Genetics · 23
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
2022 · Alexander M. Holtz, Rachel VanCoillie, et al. · Genetics in Medicine · 22
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
2020 · Kylie Tingley, Monica Lamoureux, et al. · Orphanet Journal of Rare Diseases · 22
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Defining the clinical phenotype of Saul–Wilson syndrome
2020 · Carlos R. Ferreira, Wadih M. Zein, et al. · Genetics in Medicine · 18
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy
2020 · Cagla Cömert, Lauren Brick, et al. · Molecular Case Studies · 13
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Expanding 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
2019 · Manveen Virdee, Eroshini Swarnalingam, et al. · Journal of Child Neurology · 13
Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
2015 · A.A. Mhanni, M. Kozenko, et al. · Molecular Genetics and Metabolism Reports · 13
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
2025 · Ivana Lessel, Anja Baresic, et al. · The American Journal of Human Genetics · 7
Genetic implications and health consequences following the Chernobyl nuclear accident
2010 · M Kozenko, AE Chudley · Clinical Genetics · 6
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
2025 · Marissa J Maroni, Melissa Barton, et al. · Brain · 4
Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)
2014 · Ivan Stevic, Mariya Kozenko, et al. · Biochemical Genetics · 4
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
2024 · Ryan Iverson, Monica Taljaard, et al. · BMC Pediatrics · 3
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Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
2024 · Eva Berger, Robin-Tobias Jauss, et al. · Genetics in Medicine · 1
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Expanding 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
2019 · Mark Tarnopolsky, Mariya Kozenko, et al. · Journal of Child Neurology · 1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
2025 · Kubisch, Christian, Cogne, Benjamin, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Works count: 36
Citation count: 1,132
H-index: 14
I10-index: 17
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