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Neuropsychiatric / Behavioral

Neuropsychiatric / Behavioral

“Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients”

European Journal of Human Genetics, 2019. doi: 10.1038/s41431-019-0485-3.
J. Tenorio

“Tatton‐Brown‐Rahman syndrome: cognitive and behavioural phenotypes”

Developmental Medicine & Child Neurology, 2019. doi: 10.1111/dmcn.14426.
C. Lane et al.

“Behavioral and dental management of a patient with Tatton-Brown-Rahman syndrome: Case report”

Spec Care Dentist, 40(6):597-604, 2020. doi: 10.1111/scd.12513.
M.-C. Paz-Alegría et al.

“Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis”

Neuromuscular Disorders, 33(6):484-489, 2023. doi: 10.1016/j.nmd.2023.04.002.
R. Ghaoui et al.

“Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome”

Journal of Psychopathology and Clinical Science, 132(6):768-778, 2023. doi: 10.1037/abn0000837.
H. Smith et al.

“Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits”

Cell Reports, 42(11):113411, 2023. doi: 10.1016/j.celrep.2023.113411.
D.C. Beard et al.

“An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy”

American Journal of Medical Genetics Part A, 194(4):e63484, 2024. doi: 10.1002/ajmg.a.63484.
A.A. AlSabah et al.

Back to Published Research

Clinical findings

diagnostic features, case studies, cardiac findings, stature

Genetics and epigenetics

DNA methylation, animal models, gene regulation

Cancer and blood disorders

leukemia risk, hematopoietic mutations, R882 mutation
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