Learn more about the published work on genetic variants in TCF7L2 in association with neurodevelopmental disorders:

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH. 

Am J Med Genet A (2021), 185(8): 2384-90.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism.

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, (…), Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD.

Cell (2020), 180: 568-584.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, (…), Cutler Dj, Roeder K, Devlin B, Daly MJ, Buxbaum JD.

Nature (2014), 515: 209-2015.

Learn more about the published work on natural history of subjects with genetic variants of TCF7L2:

Family history of menstrual irregularity or diabetes mellitus enhances the susceptibility to polycystic ovary syndrome among subjects harboring rs7903146 genetic variant to TCF7L2.

Rashid R, Shah IA, Asrar MM, Godha M, Ganai BA, Ganie MA.

J Diabetes Metab Disord (2022), 21: 769-776.

Learn more about the published work on the association of TCF7L2 single nucleotide polymorphisms with human diseases:

Accumulating evidence for a role of TCF7L2 variants in bipolar disorder with elevated body mass index.

Cuellar-Barboza AB, Winham SJ, McElroy SL, Geske JR, Jenkins GD, Colby CL, Prieto ML, Ryu E, Cunningham JM, Frye MA, Biernacka JM.

Bipolar Disorders (2016).

Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.

Winham SJ, Cuellar-Barboza AB, Oliveros A, McElroy SL, Crow S, Colby C, Choi D-S, Chauhan M, Frye M, Biernacka JM.

Molecular Psychiatry (2014), 19: 1010-1016.

Learn more about the published work on TCF7L2 gene expression and function in the brain in animal models:

TCF7L2, a nuclear marker that labels premyelinating oligodendrocytes and promotes oligodendroglial lineage progression.

Guo F, Wang Y.

Glia (2022).