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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: kennedy jc. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
Loss of FLCN inhibits canonical WNT signaling via TFE3.
Kennedy JC, Khabibullin D, Hougard T, Nijmeh J, Shi W, Henske EP. Kennedy JC, et al. Hum Mol Genet. 2019 Oct 1;28(19):3270-3281. doi: 10.1093/hmg/ddz158. Hum Mol Genet. 2019. PMID: 31272105 Free PMC article.
Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.
Kerman BJ, Zawatsky CBL, Fieg E, Frank NY, Donnelly RS, Green RC, Kennedy JC, Lakdawala N, Licurse AM, Perez EF, Preys CL, Krier JB, Rana HQ, Zettler B, Vassy JL. Kerman BJ, et al. Among authors: kennedy jc. Genet Med Open. 2024 Feb 21;2:101831. doi: 10.1016/j.gimo.2024.101831. eCollection 2024. Genet Med Open. 2024. PMID: 39669592 Free PMC article.
159 results