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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: macek m. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: macek m. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Standards for the care of people with cystic fibrosis (CF); Planning for a longer life.
Gramegna A, Addy C, Allen L, Bakkeheim E, Brown C, Daniels T, Davies G, Davies JC, De Marie K, Downey D, Felton I, Hafkemeyer S, Hamouda S, Kendall V, Lindberg U, Macek M, Mayell S, Pearlsman O, Schechter MS, Salvatori L, Sands D, Schwarz C, Shteinberg M, Taylor J, Taylor-Cousar JL, Taylor-Robinson D, Watkins B, Verkleij M, Bevan A, Castellani C, Drevinek P, Gartner S, Lammertyn E, Landau EEC, Middleton PG, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Burgel PR, Southern KW. Gramegna A, et al. Among authors: macek m. J Cyst Fibros. 2024 May 23:S1569-1993(24)00070-5. doi: 10.1016/j.jcf.2024.05.007. Online ahead of print. J Cyst Fibros. 2024. PMID: 38789317
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J, Rowin EJ, Chan RH, Chin MT, Puchnerova V, Polakova E, Macek M Jr, Votypka P, Batorsky R, Perera G, Koethe B, Veselka J, Maron BJ, Maron MS. Bonaventura J, et al. Among authors: macek m jr. J Am Heart Assoc. 2024 May 21;13(10):e033565. doi: 10.1161/JAHA.123.033565. Epub 2024 May 17. J Am Heart Assoc. 2024. PMID: 38757491 Free article.
595 results