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Petr Vyleťal

Observed names: P Vylet'al, P. Vylet'al, P. Vyletal, P., Vylet’al, Petr Vylet'al, Petr Vyletal, Petr Vylet’al, Petr VyleÅ¥al, Vylet'al P, Vyleťal, P., Vyleťal, Petr
Observed institutions: Broad Institute, Harvard University, Charles University, General University Hospital in Prague, Centre for Applied Genomics, Massachusetts Institute of Technology
ORCID: 0000-0002-9357-1237
Observed ORCID: 0000-0002-9357-1237
OpenAlex ID: A5030012032
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
2013 · Andrew Kirby, Andreas Gnirke, et al. · Nature Genetics · 306
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Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
2009 · Martina Živná, Helena Hůlková, et al. · The American Journal of Human Genetics · 164
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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
2016 · Nikhita Ajit Bolar, Christelle Golzio, et al. · The American Journal of Human Genetics · 162
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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 · P. Vylet'al, M. Kublová, et al. · Kidney International · 126
Uromodulin Biology and Pathophysiology – An Update
2010 · Petr Vyletal, Anthony J. Bleyer, et al. · Kidney & Blood Pressure Research · 87
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Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
2014 · Anthony J. Bleyer, Stanislav Kmoch, et al. · Clinical Journal of the American Society of Nephrology · 81
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
2018 · Martina Živná, Kendrah Kidd, et al. · Journal of the American Society of Nephrology · 57
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Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
2010 · A.J. Bleyer, M. Zivná, et al. · Clinical Nephrology · 55
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes
2020 · Martina Živná, Kendrah Kidd, et al. · Kidney International · 50
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
2020 · Kendrah Kidd, Petr Vylet’al, et al. · Kidney International Reports · 50
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Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
2011 · Blanka Stiburkova, Jakub Krijt, et al. · Clinica Chimica Acta · 42
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 · Kateřina Hodaňová, Jacek Majewski, et al. · Kidney International · 36
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
2008 · P. Vylet'al, H. Hůlková, et al. · Journal of Inherited Metabolic Disease · 28
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes
2003 · Blanka Stibůrková, Jacek Majewski, et al. · European Journal of Human Genetics · 28
Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response
2024 · Martina Živná, Gabriela Dostálová, et al. · Journal of the American Society of Nephrology · 21
Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
2006 · Petr Vyletal, Jitka Sokolová, et al. · Human Mutation · 21
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Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
2019 · Anthony J. Bleyer, Anthony J. Bleyer, et al. · Genetics in Medicine · 19
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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
2023 · Tereza Kmochová, Kendrah O. Kidd, et al. · Kidney International · 18
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Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
2022 · Mark Sicking, Martina Živná, et al. · Life Science Alliance · 16
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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 · Ivana Jedličková, Maxime Cadieux-Dion, et al. · European Journal of Human Genetics · 16
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
2024 · Elhussein A.E. Elhassan, Tereza Kmochová, et al. · Kidney International Reports · 13
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
2021 · Petr Vylet’al, Kendrah Kidd, et al. · American Journal of Nephrology · 13
Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment
2024 · Stanley T. Crooke, Tracy Cole, et al. · medRxiv · 8
Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
2019 · Anthony J. Bleyer, Kendrah Kidd, et al. · Clinical Nephrology · 8
Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
2026 · Alena Vrbacká, Anna Přistoupilová, et al. · Journal of the American Society of Nephrology · 7
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Works count: 45
Citation count: 1,441
H-index: 18
I10-index: 22
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