M. Kozenko

发表

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

A. Chan, I. Stević, H. Chan, 2014, Biochemical Genetics.

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

M. Tarnopolsky, Kevin Jones, M. Kozenko, 2019, Journal of child neurology.

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

M. Tarnopolsky, Kevin Jones, M. Kozenko, 2019, Journal of child neurology.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

D. Callen, Ilana Hanes, M. Kozenko, 2015, Pediatric neurology.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

A. Chan, I. Stević, H. Chan, 2014, Biochemical Genetics.

Potential teratogenic effects of allopurinol: A case report

A. Elliott, D. Grynspan, D. Sitar, 2011, American journal of medical genetics. Part A.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

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

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

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

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

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

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Kiely N. James, Dillon Y. Chen, G. Mancini, 2019, American journal of human genetics.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

K., Lin, H., 2020, European Journal of Human Genetics.

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

C. Georgopoulos, P. Bross, D. Ang, 2020, Cold Spring Harbor molecular case studies.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

Genetic implications and health consequences following the Chernobyl nuclear accident

A. Chudley, M. Kozenko, 2010, Clinical genetics.