Publications by authors named "Mariya Kozenko"

15Publications

A recurrent de novo variant is associated with hypomyelinating leukodystrophy.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, 8200, Aarhus N, Denmark.

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http://dx.doi.org/10.1101/mcs.a004879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304351PMC
June 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

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.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

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.

J Child Neurol 2020 02 4;35(2):176-177. Epub 2019 Nov 4.

Neurology Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073819881259DOI Listing
February 2020

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?

Pediatr Neurol 2015 Dec 12;53(6):535-40. Epub 2015 Sep 12.

Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.09.002DOI Listing
December 2015

Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).

Biochem Genet 2014 Jun 7;52(5-6):225-32. Epub 2014 Feb 7.

Department of Pediatrics, McMaster University, Hamilton, ON, Canada,

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http://dx.doi.org/10.1007/s10528-014-9642-0DOI Listing
June 2014

Potential teratogenic effects of allopurinol: a case report.

Am J Med Genet A 2011 Sep 3;155A(9):2247-52. Epub 2011 Aug 3.

Department of Pediatrics & Child Health and Biochemistry, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34139
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http://dx.doi.org/10.1002/ajmg.a.34139DOI Listing
September 2011