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1.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36681873
2.
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Int J Legal Med
; 137(6): 1787-1801, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37178278
3.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Hum Mutat
; 43(12): 1824-1828, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35819173
4.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34281165
5.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32427345
6.
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
J Am Heart Assoc
; 13(10): e033565, 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38757491
7.
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.
Front Med (Lausanne)
; 10: 1320054, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38170106
8.
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.
Front Med (Lausanne)
; 9: 1020096, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36703897
9.
Patients with hypertrophic obstructive cardiomyopathy after alcohol septal ablation have favorable long-term outcome irrespective of their genetic background.
Cardiovasc Diagn Ther
; 10(2): 193-200, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32420099
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