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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: porter lf. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Among authors: porter lf. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.
Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
Porter LF, Saptarshi N, Fang Y, Rathi S, den Hollander AI, de Jong EK, Clark SJ, Bishop PN, Olsen TW, Liloglou T, Chavali VRM, Paraoan L. Porter LF, et al. Clin Epigenetics. 2019 Jan 14;11(1):6. doi: 10.1186/s13148-019-0608-2. Clin Epigenetics. 2019. PMID: 30642396 Free PMC article.
Clinical and Virological Follow-Up of a Cohort of 76 COVID-19 Older Hospitalized Adults.
Meyer M, Calabrese L, Meyer A, Constancias F, Porter LF, Muller M, Leitner M, Leitner A, Michaud A, Kaltenbach G, Schmitt E, Karcher P, Sauleau E, Chayer S, Zeyons F, Riou M, Abdo SEG, Blanc F, Fafi-Kremer S, Velay A, Vogel T. Meyer M, et al. Among authors: porter lf. J Am Geriatr Soc. 2021 May;69(5):1167-1170. doi: 10.1111/jgs.17023. Epub 2021 Jan 11. J Am Geriatr Soc. 2021. PMID: 33368150 No abstract available.
Personalized ophthalmology.
Porter LF, Black GC. Porter LF, et al. Clin Genet. 2014 Jul;86(1):1-11. doi: 10.1111/cge.12389. Clin Genet. 2014. PMID: 24665880 Free PMC article. Review.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C. Rohrbach M, et al. Among authors: porter lf. Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26. Mol Genet Metab. 2013. PMID: 23680354 Free PMC article.
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