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Marc Ventayol‐Guirado

Observed names: M. Ventayol-Guirado, Marc Ventayol-Guirado, Ventayol-Guirado, Marc
ORCID: 0000-0003-4229-2737
Observed ORCID: 0000-0003-4229-2737
OpenAlex ID: A5106274584
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis
2025 · Marc Ventayol-Guirado, Eugenia Cisneros-Barroso, et al. · Scientific Reports · 4
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Revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus
2025 · Marc Ventayol-Guirado, Eugenia Cisneros-Barroso, et al. · Amyloid · 1
First follicular fluid cf-mtDNA sequencing unveils ovarian stimulation-induced mutations impacting oocyte quality and IVF success
2025 · Marc Ventayol-Guirado, Jessica Hernandez-Rodriguez, et al. · Journal of Assisted Reproduction and Genetics · 1
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Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
2024 · Marc Ventayol‐Guirado, Laura Torres, et al. · American Journal of Medical Genetics Part A · 1
1000 Genomes phased autosomal reference panels packaged for SHAPAGE: hg19 and hg38
2026 · Ventayol-Guirado, Marc · Zenodo (CERN European Organization for Nuclear Research)
SHAPAGE hg19 Reference Repository
2026 · Ventayol-Guirado, Marc · Zenodo (CERN European Organization for Nuclear Research)
SHAPAGE hg38 References Repository
2026 · Ventayol-Guirado, Marc · Zenodo (CERN European Organization for Nuclear Research)
Real-world effectiveness and clinical predictors of response to first-generation TTR silencers in variant ATTR amyloidosis with polyneuropathy
2026 · M. A. Ribot-Sansó, J. González-Moreno, et al. · Scientific Reports
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Natural history, hospitalizations and mortality causes in ATTRv V30M amyloidosis in an endemic European cohort
2026 · Paula Hernández-Sanjuán, Juan González-Moreno, et al. · Research Square
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Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis
2025 · Juan Antonio Jiménez-Barceló, Alexander Damián Heine-Suñer, et al. · Research Square
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Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS
2025 · Emilia Amengual-Cladera, Maria Victòria Llull-Alberti, et al. · International Journal of Molecular Sciences
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Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis: a prospective study
2025 · Juan Antonio Jiménez Barceló, Alexander Damià Heine-Suñer, et al.
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Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families
2025 · Oriol Barrachina-Esteve, Marc Ventayol-Guirado, et al. · Neuromuscular Disorders
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Works count: 13
Citation count: 7
H-index: 1
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