Publications by authors named "Marc Pybus"

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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Antoni Riera-Escamilla, Mohamed M Arafa, Ginevra Farnetani, Miguel J Xavier, Manon S Oud, Marc Pybus

Hum Reprod Open· September 2025

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When should the nephrologist think about genetics in patients with glomerular diseases?
Roser Torra, Xoana Barros, Montserrat Díaz-Encarnación, Leonor Fayos, Mónica Furlano, Marc Pybus

Clin Kidney J· March 2025

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Gut IgA functionally interacts with systemic IgG to enhance antipneumococcal vaccine responses.
Cindy Gutzeit, Emilie K Grasset, Dean B Matthews, Paul J Maglione, Graham J Britton, Marc Pybus

Sci Adv· February 2025

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Immunomolecular and reactivity landscapes of gut IgA subclasses in homeostasis and inflammatory bowel disease.
Sonia Tejedor Vaquero, Hadas Neuman, Laura Comerma, Xavi Marcos-Fa, Celia Corral-Vazquez, Marc Pybus

J Exp Med· December 2024

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Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
Mónica Furlano, Melissa Pilco-Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona

Nephrol Dial Transplant· August 2024

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A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the Gene.
Gloria Fraga, M Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran

Genes (Basel)· May 2024

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Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Andrea Domingo-Gallego, Marc Pybus, Leire Madariaga, Juan Alberto Piñero-Fernández, Sara González-Pastor

Nephrol Dial Transplant· September 2022

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Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J Xavier, Albert Carbonell, Marc Pybus

Am J Hum Genet· August 2022

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Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.
Javier Naranjo, Mónica Furlano, Ferran Torres, Jonathan Hernandez, Marc Pybus

Clin Kidney J· May 2022

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich, Mónica Furlano, Laia Ejarque-Vila

Nephrol Dial Transplant· March 2022

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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Mónica Furlano, Victor Martínez, Marc Pybus, Yolanda Arce, Jaume Crespí

Am J Kidney Dis· October 2021

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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Sawssan Ammar, Houda Kanoun, Khawla Kammoun, Andrea Domingo-Gallego, Patricia Ruiz, Marc Pybus

J Hum Genet· August 2021

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Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Csilla Krausz, Antoni Riera-Escamilla, Daniel Moreno-Mendoza, Kaylee Holleman, Francesca Cioppi, Marc Pybus

Genet Med· December 2020

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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Andrea Domingo-Gallego, Mónica Furlano, Marc Pybus, Daniel Barraca, Ana Belén Martínez

BMC Nephrol· April 2019

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Effect of Collapsed Duplications on Diversity Estimates: What to Expect.
Diego A Hartasánchez, Marina Brasó-Vives, Jose Maria Heredia-Genestar, Marc Pybus, Arcadi Navarro

Genome Biol Evol· November 2018

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Genomes reveal marked differences in the adaptive evolution between orangutan species.
Maja P Mattle-Greminger, Tugce Bilgin Sonay, Alexander Nater, Marc Pybus, Tariq Desai

Genome Biol· November 2018

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Secreted IgD Amplifies Humoral T Helper 2 Cell Responses by Binding Basophils via Galectin-9 and CD44.
Meimei Shan, Jorge Carrillo, Ada Yeste, Cindy Gutzeit, Daniel Segura-Garzón, Marc Pybus

Immunity· October 2018

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Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species.
Alexander Nater, Maja P Mattle-Greminger, Anton Nurcahyo, Matthew G Nowak, Marc de Manuel, Marc Pybus

Curr Biol· November 2017

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mTOR intersects antibody-inducing signals from TACI in marginal zone B cells.
Jordi Sintes, Maurizio Gentile, Shuling Zhang, Yolanda Garcia-Carmona, Giuliana Magri, Marc Pybus

Nat Commun· November 2017

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Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species.
Alexander Nater, Maja P Mattle-Greminger, Anton Nurcahyo, Matthew G Nowak, Marc de Manuel, Marc Pybus

Curr Biol· November 2017

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Human Secretory IgM Emerges from Plasma Cells Clonally Related to Gut Memory B Cells and Targets Highly Diverse Commensals.
Giuliana Magri, Laura Comerma, Marc Pybus, Jordi Sintes, David Lligé

Immunity· July 2017

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Natural Selection in the Great Apes.
Alexander Cagan, Christoph Theunert, Hafid Laayouni, Gabriel Santpere, Marc Pybus

Mol Biol Evol· December 2016

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Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation.
Mayukh Mondal, Ferran Casals, Tina Xu, Giovanni M Dall'Olio, Marc Pybus

Nat Genet· September 2016

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Hierarchical boosting: a machine-learning framework to detect and classify hard selective sweeps in human populations.
Marc Pybus, Pierre Luisi, Giovanni Marco Dall'Olio, Manu Uzkudun, Hafid Laayouni

Bioinformatics· December 2015

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Recent positive selection has acted on genes encoding proteins with more interactions within the whole human interactome.
Pierre Luisi, David Alvarez-Ponce, Marc Pybus, Mario A Fares, Jaume Bertranpetit

Genome Biol Evol· April 2015

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