Mariya Kozenko

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

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond et al. · The American Journal of Human Genetics · 2013 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 et al. · The American Journal of Human Genetics · 2018 · 75 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16

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 et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 et al. · The American Journal of Human Genetics · 2018 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17