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Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: gay m. medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267. medRxiv. 2023. PMID: 37662408 Free PMC article. Preprint.
Top-Down Proteomics Applied to Human Cerebrospinal Fluid.
Gay M, Sánchez-Jiménez E, Villarreal L, Vilanova M, Huguet R, Arauz-Garofalo G, Díaz-Lobo M, López-Ferrer D, Vilaseca M. Gay M, et al. Methods Mol Biol. 2019;2044:193-219. doi: 10.1007/978-1-4939-9706-0_12. Methods Mol Biol. 2019. PMID: 31432414
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: gay m. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Biomarker candidates for progression and clinical management of COVID-19 associated pneumonia at time of admission.
Calvet J, Berenguer-Llergo A, Gay M, Massanella M, Domingo P, Llop M, Sánchez-Jiménez E, Arévalo M, Carrillo J, Albiñana N, Arauz-Garofalo G, Orellana C, Delgado JF, Serrano A, Llobell A, Graell E, García-Manrique M, Moreno M, Galisteo C, Casado E, Navarro N, Gómez A, Garcia-Cirera S, Rusiñol M, Costa E, Clotet B, Vilaseca M, Blanco J, Gratacós J. Calvet J, et al. Among authors: gay m. Sci Rep. 2022 Jan 12;12(1):640. doi: 10.1038/s41598-021-04683-w. Sci Rep. 2022. PMID: 35022497 Free PMC article.
337 results