Sergi Beltran - Departament de Genètica, Universitat de Barcelona

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论文共 161 篇作者统计合作学者相似作者

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Danique Beijer,Brent Fogel,Sergi Beltran,Matt Danzi,Andrea Nemeth,Stephan Zuchner,Matthis Synofzik

CEREBELLUM（2024）

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David Lagorce, Emeline Lebreton,Leslie Matalonga, Oscar Hongnat, Maroua Chahdil,Davide Piscia,Ida Paramonov,Kornelia Ellwanger,Sebastian Köhler,Peter Robinson,Holm Graessner,Sergi Beltran,

European journal of human genetics : EJHG（2024）

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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell,Anna Codina, Carlos Ortez,Laura Carrera-García, Jessica Expósito-Escudero,Delia Yubero, Janet Hoenicka,Cristina Jou, Francesc Palau,Sergi Beltran,

Journal of neuromuscular diseasesno. 3 (2024): 647-653

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Towards cross-border access to human genomes and clinical information at scale for research and healthcare

Juan Arenas, Serena Scollen, Nikki Coutts,Ruben Kok, Toni Andreu, Jan Korbel, Denis Horgan,Regina Becker,Jasper Bovenberg,Ivo Gut, Jeroen Belien,Tommi Nyronen,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 643-644

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Systematic Pan-European reanalysis of 6004 genetically undiagnosed rare disease families yields 506 new diagnoses

Wouter Steyaert,Steven Laurie,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna Sommer,Anthony Brookes,Han Brunner,Holm Graessner,Olaf Riess,Katja Lohmann,Richarda de Voer,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 62-63

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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Iker Núñez-Carpintero,Maria Rigau,Mattia Bosio,Emily O’Connor,Sally Spendiff,Yoshiteru Azuma,Ana Topf,Rachel Thompson,Peter A. C. ’t Hoen,Teodora Chamova,Ivailo Tournev,Velina Guergueltcheva,

Nature Communicationsno. 1 (2024): 1-15

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov,Burcu Yaldiz,José Garcia-Pelaez,Elke de Boer,Nika Schuermans,Liedewei Van de Vondel, Ida Paramonov,Lennart F. Johansson,Francesco Musacchia,Elisa Benetti, Gemma Bullich,Karolis Sablauskas,

medrxiv（2023）

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B1MG D4.2 Secure data access demonstrator

Dylan Spalding, Tommi Nyrönen,Regina Becker, Wanyi Gu, Mallory Freeberg,Juan Arenas Marquez, Attila Patócs, Andreas Georg Scherer,Sergi Beltrán, Jeroen Beliën

Zenodo (CERN European Organization for Nuclear Research) (2023)

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Supplementary Figure S3 from Chromosome 12p Amplification in Triple-Negative/<i>BRCA1-</i>Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity

Jorge Gómez-Miragaya,Ander Díaz-Navarro,Raul Tonda,Sergi Beltran,Luis Palomero,Marta Palafox,Lacey E. Dobrolecki,Chen Huang,Suhas Vasaikar,Bing Zhang,Gerburg M. Wulf, Alejandro Collado-Sole,

crossref（2023）

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Treatabolome DB: linking gene and variants with treatments for rare diseases

A. Corvó, L. Matalonga,C. Hernandez-Ferrer, R. Thompson, L. Carmody,D. Piscia, A. Macaya, A. Lochmuller, A. Manta, B. Fontaine, S. Vicart,J. Desaphy,

HAL (Le Centre pour la Communication Scientifique Directe) (2023)

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