Tamison Jewett, MD

Professor, Pediatrics - Medical Genetics

Tamison Jewett, MD

Professor, Pediatrics - Medical Genetics

Research

Publications

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE. Kidney Int. 2019 Jun; 95(6):1494-1504.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Ann. Neurol. 2018 06; 83(6):1075-1088.
Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report. Thurtle DP, Huck MB, Zeller KA, Jewett T. J Med Case Rep. 2018 Mar; 12(1):56.
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities. May PA, Chambers CD, Kalberg WO, Zellner J, Feldman H, Buckley D, Kopald D, Hasken JM, Xu R, Honerkamp-Smith G, Taras H, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Vaux K, Jewett T, Elliott AJ, Kable JA, Akshoomoff N, Falk D, Arroyo JA, Hereld D, Riley EP, Charness ME, Coles CD, Warren KR, Jones KL, Hoyme HE. JAMA. 2018 02; 319(5):474-482.
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. Hum. Genet. 2014 Jul; 133(7):939-49.

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Tamison Jewett, MD

Tamison Jewett, MD