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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: gurnett ca. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
MET mutation causes muscular dysplasia and arthrogryposis.
Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. Zhou H, et al. EMBO Mol Med. 2019 Mar;11(3):e9709. doi: 10.15252/emmm.201809709. EMBO Mol Med. 2019. PMID: 30777867 Free PMC article.
DICER1 mutations in familial pleuropulmonary blastoma.
Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. Hill DA, et al. Among authors: gurnett ca. Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25. Science. 2009. PMID: 19556464 Free PMC article.
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Olfson E, et al. Among authors: gurnett ca. PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015. PLoS One. 2015. PMID: 26332594 Free PMC article.
148 results