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Genetics and Epigenetics

Genetics and Epigenetics

“Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging”

Genome Research, 29(7):1057–1066, 2019. doi: 10.1101/gr.243584.118.
A.R. Jeffries et al.

“DNMT3A haploinsufficiency results in behavioral deficits and global epigenomic dysregulation shared across neurodevelopmental disorders”

Cell Reports, 33:108416, 2020.
D.L. Christian et al.

“Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders”

The American Journal of Human Genetics, 106:P356–370, 2020.
E. Aref-Eshghi et al.

“Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype”

PNAS, 118(16):e2022760118, 2021. doi: 10.1073/pnas.2022760118.
D.Y. Chen et al.

“Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome”

Nature Communications, 12:4549, 2021.
A.M. Smith et al.

“The Epigenetic Role of Vitamin C in Neurodevelopment”

International Journal of Molecular Sciences, 23(3):1208, 2022. doi: 10.3390/ijms23031208.
S.J. Coker et al.

“Epigenetic Causes of Overgrowth Syndromes”

Journal of Clinical Endocrinology & Metabolism, 109(2):312–320, 2024. doi: 10.1210/clinem/dgad420.
J.C. Lui, J. Baron

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Clinical findings

diagnostic features, case studies, cardiac findings, stature

Neuropsychiatric and behavioral

intellectual disability, autism, memory formation

Cancer and blood disorders

leukemia risk, hematopoietic mutations, R882 mutation
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