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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: porter lf. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
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.
Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adults.
Meyer M, Meyer A, Calabrese L, Constancias F, Porter LF, Muller M, Leitner M, Leitner A, Michaud A, Boussuge A, Kaltenbach G, Schmitt E, Karcher P, Sauleau E, Chayer S, 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):1170-1174. doi: 10.1111/jgs.17102. Epub 2021 Apr 1. J Am Geriatr Soc. 2021. PMID: 33792892 Free PMC article. No abstract available.
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.
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A, Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero KK, Kuo A, Shears SB, Rabinowitz YS, Liu Y. Khaled ML, et al. Among authors: porter lf. Sci Rep. 2019 Dec 18;9(1):19406. doi: 10.1038/s41598-019-55866-5. Sci Rep. 2019. PMID: 31852976 Free PMC article.
24 results