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Published Research

Published Research

Tatton Brown Rahman Syndrome (TBRS) is an emerging area of study across clinical genetics, neurodevelopment, oncology, and epigenetics. The TBRS Community maintains a curated list of peer-reviewed publications to support research, clinical care, and family education.

Featured Open-Access Papers

These studies are freely available:

“Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation”

American Journal of Medical Genetics, 2016. doi: 10.1002/ajmg.a.37995.
R. Kosaki et al.

“Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation”

Journal of Medical Genetics, 54:805–808, 2017.
I.H.I.M. Hollink et al.

“The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies”

American Journal of Medical Genetics, 2017. doi: 10.1002/ajmg.a.38485.
W. Shen et al.

“The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome”

American Journal of Medical Genetics, 2019. doi: 10.1002/ajmg.a.61180.
K.J. Sweeney et al.

Research Categories

Publications span the following topics:

Clinical findings

diagnostic features, case studies, cardiac findings, stature

Neuropsychiatric and behavioral

intellectual disability, autism, memory formation

Genetics and epigenetics

DNA methylation, animal models, gene regulation

Cancer and blood disorders

leukemia risk, hematopoietic mutations, R882 mutation

Search TBRS on PubMed

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