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Research Interests

Papers共 107 篇Author StatisticsCo-AuthorSimilar Experts

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The Importance of Using Qcarrier Plus® Extended Compatibility Test to Reduce Residual Risks in the Field of Reproductive Medicine
Andrea Domingo Gallego, Anna Borgia, Lydia Madrid Cortes, Raquel Garcia,Lidia Carreno, Neus Fornes, Nina Bosch Pages, Maria Segura-Puimedon,Lluis Armengol
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 358-359
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Liquid biopsy for early tumor relapse detection
Pau Rodriguez-Sodupe,Jairo Rodriguez,Lluis Armengol,Luis Perez-Jurado, Marco Telford
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 582-582
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0
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Diagnostic Yield of NGS Data Reanalysis on a Cohort of Patients with Intellectual Disability
Marta Carreno, Maria Segura-Puimedon, Raquel Garcia, Olaya Villa Marcos, Monica Vall,Lidia Carreno, Hector San Nicolas,Cesar Arjona, Raquel Munoz Siles, Emma Lorente Ruiz,Lluis Armengol
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 475-475
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Unexpected Complexity in the Molecular Diagnosis of Spastic Paraplegia 11
Irene Mademont-Soler,Susanna Esteba-Castillo, Aida Jimenez-Xifra, Berta Alemany,Nuria Ribas-Vidal, Maria Cutillas,Monica Coll, Mel lina Pinsach,Sara Pagans,Mireia Alcalde,Marina Vinas-Jornet, Mercedes Montero-Vale, Marta de Castro-Miro,Jairo Rodriguez,Lluis Armengol,Xavier Queralt,Maria Obon
Molecular Genetics & Genomic Medicineno. 6 (2024)
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The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance
Stefano Medaglia, Jaume Reig-Palou, Ariadna Belles, Nerea Moreno-Ruiz,Jairo Rodriguez, Xavier Armengol,Juan Ignacio Arostegui,Lluis Armengol, Juan Jose Guillen,Hafid Laayouni,Ferran Casals
Clinical geneticsno. 3 (2024): 323-327
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CERT1 Mutations Perturb Human Development by Disrupting Sphingolipid Homeostasis
Charlotte Gehin,Museer A. Lone,Winston Lee,Laura Capolupo,Sylvia Ho, Adekemi M. Adeyemi,Erica H. Gerkes,Alexander P. A. Stegmann,Estrella Lopez-Martin,Eva Bermejo-Sanchez,Beatriz Martinez-Delgado,Christiane Zweier,Cornelia Kraus,Bernt Popp,Vincent Strehlow,Daniel Graefe, Ina Knerr, Eppie R. Jones,Stefano Zamuner,Luciano A. Abriata,Vidya Kunnathully,Brandon E. Moeller,Anthony Vocat,Samuel Rommelaere, Jean-Philippe Bocquete,Evelyne Ruchti,Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat,Petra Henklein,Christian Gilissen,Bregje W. van Bon,Rolph Pfundt,Marjolein H. Willemsen,Jolanda H. Schieving,Emanuela Leonardi,Fiorenza Soli,Alessandra Murgia,Hui Guo,Qiumeng Zhang,Kun Xia,Christina R. Fagerberg,Christoph P. Beier,Martin J. Larsen,Irene Valenzuela,Paula Fernandez-alvarez,Shiyi Xiong,Robert Smigiel,Vanesa Lopez-Gonzalez,Lluis Armengol,Manuela Morleo,Angelo Selicorni,Annalaura Torella,Moira Blyth,Nicola S. Cooper,Valerie Wilson,Renske Oegema,Yvan Herenger,Aurore Garde,Ange-Line Bruel,Frederic Tran Mau-Them,Alexis B. R. Maddocks,Jennifer M. Bain,Musadiq A. Bhat,Gregory Costain,Peter Kannu,Ashish Marwaha,Neena L. Champaigne,Michael J. Friez, Ellen B. Richardson,Vykuntaraju K. Gowda,Varunvenkat M. Srinivasan,Yask Gupta,Tze Y. Lim,Simone Sanna-Cherchi,Bruno Lemaitre,Toshiyuki Yamaji,Kentaro Hanada,John E. Burke, Ana Marjia Jaksic,Brian D. McCabe,Paolo De Los Rios,Thorsten Hornemann,Giovanni D'Angelo,Vincenzo A. Gennarino
Journal of Clinical Investigation（2023）
Cited11Views0WOSBibtex
11
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype
Monica Roldan, Gregorio Alexander Nolasco,Lluis Armengol, Marcos Frias,Marta Morell,Manel Garcia-Aragones, Florencia Epifani,Jordi Muchart, Maria Luisa Ramirez-Almaraz,Loreto Martorell,Cristina Hernando-Davalillo,Roser Urreizti,Mercedes Serrano
International Journal of Molecular Sciencesno. 18 (2023): 13699-13699
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Author Statistics

#Papers: 107

#Citation: 10746

H-Index: 33

G-Index: 64

Sociability: 7

Diversity: 3

Activity: 10

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