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Page 1
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 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.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Votýpka P, Krebsová A, Norambuena-Poustková P, Peldová P, Pohlová Kučerová Š, Kulvajtová M, Dohnalová P, Bílek M, Stufka V, Rücklová K, Grossová I, Wünschová H, Tavačová T, Hašková J, Segeťová M, Štoček J, Gřegořová A, Zoubková V, Petřková J, Dobiáš M, Makuša M, Blanková A, Vajtr D, Řehulka H, Šubrt I, Pilin A, Tomášek P, Janoušek J, Kautzner J, Macek M Jr. Votýpka P, et al. Int J Legal Med. 2023 Nov;137(6):1787-1801. doi: 10.1007/s00414-023-03007-z. Epub 2023 May 13. Int J Legal Med. 2023. PMID: 37178278 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: 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.
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.
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.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1359-1368. doi: 10.1038/s41431-021-00900-2. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075211 Free PMC article.
13 results