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2020 2
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Page 1
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: votypka p. 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.
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: votypka p. 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 PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Among authors: votypka p. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D, Zelinová M, Libik M, Geryk J, Votýpka P, Rajnochová Bloudíčková S, Krejčí K, Reiterová J, Jančová E, Machová J, Kollárová M, Rychík I, Havrda M, Horáčková M, Putzová M, Šafránek R, Kollár M, Macek M Jr. Thomasová D, et al. Among authors: votypka p. Front Med (Lausanne). 2023 Dec 19;10:1320054. doi: 10.3389/fmed.2023.1320054. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38170106 Free PMC article.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B. Rodrigues Bento J, et al. Among authors: votypka p. Hum Mutat. 2022 Dec;43(12):1824-1828. doi: 10.1002/humu.24433. Epub 2022 Jul 16. Hum Mutat. 2022. PMID: 35819173 Free PMC article.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Baumgartner D, Mušová Z, Zídková J, Hedvičáková P, Vlčková E, Joppeková L, Kramářová T, Fajkusová L, Stránecký V, Geryk J, Votýpka P, Mazanec R. Baumgartner D, et al. Among authors: votypka p. J Neuromuscul Dis. 2024;11(5):1035-1048. doi: 10.3233/JND-230236. J Neuromuscul Dis. 2024. PMID: 39058450 Free PMC article.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: votypka p. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345
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