Publications by authors named "Mariya Kozenko"

Claim this Profile
L
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Mariya A Kozenko

Brain· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Eva Berger, Robin-Tobias Jauss, Judith D Ranells, Emir Zonic, Lydia von Wintzingerode, Mariya Kozenko

Genet Med· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Mariya A Kozenko

medRxiv· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka, Mariya Kozenko

Am J Hum Genet· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Ryan Iverson, Monica Taljaard, Michael T Geraghty, Michael Pugliese, Kylie Tingley, Mariya Kozenko

BMC Pediatr· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Mariya Kozenko

Genet Med· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France, Mouna Barat-Houari, Mariya Kozenko

Am J Hum Genet· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A recurrent de novo variant is associated with hypomyelinating leukodystrophy.
Cagla Cömert, Lauren Brick, Debbie Ang, Johan Palmfeldt, Brandon F Meaney, Mariya Kozenko

Cold Spring Harb Mol Case Stud· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Defining the clinical phenotype of Saul-Wilson syndrome.
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, Andrea Merker, Seth I Berger, Mariya Kozenko

Genet Med· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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.
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T Geraghty, Jonathan B Kronick, Mariya Kozenko

Orphanet J Rare Dis· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
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.
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Mariya Kozenko

Acta Neuropathol· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, , Mouna Barat-Houari, Mariya Kozenko

Am J Hum Genet· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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.
Mark Tarnopolsky, Mariya Kozenko, Kevin Jones

J Child Neurol· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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.
Manveen Virdee, Eroshini Swarnalingam, Mariya Kozenko, Mark Tarnopolsky, Kevin Jones

J Child Neurol· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Sangmoon Lee, Dillon Y Chen, Maha S Zaki, Reza Maroofian, Henry Houlden, Mariya Kozenko

Am J Hum Genet· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Mariya Kozenko

PLoS Genet· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, David A Parry, Mariska Davids, Mariya Kozenko

Am J Hum Genet· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline A C Goos, Melissa M Lees, Mariya Kozenko

Am J Hum Genet· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
Ilana Hanes, Mariya Kozenko, David J A Callen

Pediatr Neurol· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).
Ivan Stevic, Mariya Kozenko, Robert Lostracco, Anthony K C Chan, Howard H W Chan

Biochem Genet· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Bobby G Ng, Kati J Buckingham, Kimiyo Raymond, Martin Kircher, Emily H Turner, Mariya Kozenko

Am J Hum Genet· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Potential teratogenic effects of allopurinol: a case report.
Mariya Kozenko, David Grynspan, Titi Oluyomi-Obi, Daniel Sitar, Alison M Elliott

Am J Med Genet A· September 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis