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Page 1
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: diez nb. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Genetic contribution to lipid target achievement with statin therapy: a prospective study.
Ruiz-Iruela C, Candás-Estébanez B, Pintó-Sala X, Baena-Díez N, Caixàs-Pedragós A, Güell-Miró R, Navarro-Badal R, Calmarza P, Puzo-Foncilla JL, Alía-Ramos P, Padró-Miquel A. Ruiz-Iruela C, et al. Among authors: baena diez n. Pharmacogenomics J. 2020 Jun;20(3):494-504. doi: 10.1038/s41397-019-0136-7. Epub 2019 Dec 6. Pharmacogenomics J. 2020. PMID: 31806882
KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment.
Ruiz-Iruela C, Padró-Miquel A, Pintó-Sala X, Baena-Díez N, Caixàs-Pedragós A, Güell-Miró R, Navarro-Badal R, Jusmet-Miguel X, Calmarza P, Puzo-Foncilla JL, Alía-Ramos P, Candás-Estébanez B. Ruiz-Iruela C, et al. Among authors: baena diez n. PLoS One. 2018 Oct 10;13(10):e0205430. doi: 10.1371/journal.pone.0205430. eCollection 2018. PLoS One. 2018. PMID: 30304062 Free PMC article.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, Baena-Díez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M. Vila Cuenca M, et al. Among authors: baena diez n. Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374. Int J Mol Sci. 2020. PMID: 32235485 Free PMC article.