Publications by authors named "Sebastian Menazzi"

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[Ondine syndrome: myth meets reality].
Martín Ingrisani, Eduardo Borsini, Sebastián Menazzi, María Ana Redal, Bethy Camargo

Medicina (B Aires)· May 2025

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Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.
Eugenia Conti, Sebastián Menazzi, Ana Mariel Finkelsteyn, María de Lourdes Figuerola

Rev Fac Cien Med Univ Nac Cordoba· March 2024

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Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records.
Mauricio Brunner, Matias Butti, Sebastián Menazzi, Hernan Chanfreau, Matias Tajerian

Stud Health Technol Inform· January 2024

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[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
Hernán Amartino, Carolina Azcona, Cristian Calandra, Consuelo Durand, Sebastián Fortini, Sebastián Menazzi

Medicina (B Aires)· August 2023

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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).
Paula I Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro

PLoS One· February 2023

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Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer.
Juan Rosa, Matias Tajerian, Yael Zin, Mauricio Brunner, Natalia Lopez, Sebastián Menazzi

Stud Health Technol Inform· June 2022

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Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region.
Federico José Basbus, Federico Andrés Cremona, Francisco Lucero Saá, Pablo Alberto Chiaradía, Liliana Francipane, Sebastián Menazzi

Cornea· April 2022

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Multiomix: a cloud-based platform to infer cancer genomic and epigenomic events associated with gene expression modulation.
Genaro Camele, Sebastian Menazzi, Hernán Chanfreau, Agustin Marraco, Waldo Hasperué

Bioinformatics· January 2022

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Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Paula I Buonfiglio, Carlos D Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi

Sci Rep· January 2022

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Analysis of complex structural variants in the DMD gene in one family.
Leonela Luce, Martín M Abelleyro, Micaela Carcione, Chiara Mazzanti, Liliana Rossetti, Sebastián Menazzi

Neuromuscul Disord· March 2021

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2 and 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Paula Buonfiglio, Carlos D Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi

Genes (Basel)· October 2020

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First custom next-generation sequencing infertility panel in Latin America: design and first results.
Daniela Lorenzi, Cecilia Fernández, Melina Bilinski, Mónica Fabbro, Micaela Galain, Sebastián Menazzi

JBRA Assist Reprod· May 2020

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[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].
María Soledad Andersen, Sebastián Menazzi, Paloma Brun, Cecilia Cocah, Giuseppe Merla

Arch Argent Pediatr· February 2014

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