Author

Nino Spataro

Universitat Autònoma de BarcelonaORCID 0000-0002-2127-2238Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anna RuiziD· 3 shared Neus BaenaiD· 2 shared Núria CapdevilaiD· 2 shared A. Micheil InnesiD· 1 shared Agatha SchlüteriD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alejandra DamiániD· 1 shared Alice GoldenbergiD· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetics

Anna RuizORCID

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3 papers

Recent·Most cited

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián, Juan R. Tejedor, Carlos Ruiz-Arenas, Mario Cazalla, Rosario Carmona, Jorge Amigo, Ibai Goicoechea, Raúl Tonda, Gemma Bullich, Sergi Beltrán, Noemí Toro-Barrios, Virginia Aquino, , Mireia del Toro

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

medRxiv · Sep 16, 2025 · PreprintGenetic & Genomic Medicine

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman, Karen E. Wain, Zöe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombre, Chloé Angelini, Vincent Michaud, Julien Van‐Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, , Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Journal of Medical Genetics · Dec 15, 2021Peer-reviewedGenetics

New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré, Carme Brun i Gasca, Jana Domínguez‐Carral, Verónica Delgadillo, Steven Laurie, Sophia V. Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Míriam Guitart, Anna Ruiz

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.

PLoS ONE · Oct 15, 2021Peer-reviewedGenetics