Elisabet Ars

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Venues

Clinical journal of the American Society of Nephrology : CJASN

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Fundació Puigvert

Universitat de Barcelona (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Fundació Puigvert

Spain

Head of Molecular Biology Laboratory :: Molecular Biology Laboratory

Biokit SA

Spain

Researcher :: Latex R&D

Education History

Universitat de Barcelona

Spain

PHD

Universitat de Barcelona

Spain

BSC :: Biochemistry

Publications

Monica Furlano, Melissa Pilco Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona, Asunción Rius Peris, María Vanessa Pérez-Gómez, Gerson Berná, Jaime Mazon, Jonathan Hernández, Leonor Fayos de Arizón, Elizabet Viera, Ignasi Gich, Hugo Vergara Pérez, Elena Gomá-Garcés, José Luis Albero Dolon, Elisabet Ars, Roser Torra
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 39 (9) (2024)
Gloria Fraga, M Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M José García-Borau, Roser Torra, Elisabet Ars
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene. Genes 15 (6) (2024)
Gloria Fraga, M Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M José García-Borau, Roser Torra, Elisabet Ars
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene. Genes 15 (6) (2024)
Monica Furlano, Melissa Pilco Teran, Marc Pybus, Víctor Martínez, Miriam Aza-Carmona, Asunción Rius Peris, María Vanessa Pérez-Gómez, Gerson Berná, Jaime Mazon, Jonathan Hernández, Leonor Fayos de Arizón, Elizabet Viera, Ignasi Gich, Hugo Vergara Pérez, Elena Gomá-Garcés, José Luis Albero Dolon, Elisabet Ars, Roser Torra
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 39 (9) (2024)
Gloria Fraga, M Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M José García-Borau, Roser Torra, Elisabet Ars
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene. Genes 15 (6) (2024)
Krzysztof Kiryluk, Elena Sanchez, Xu-Jie Zhou, Francesca Zanoni, Lili Liu, Nikol Mladkova, Atlas Khan, Maddalena Marasa, Junying Zhang, Olivia Balderes, Simone Sanna-Cherchi, Andrew S Bomback, Pietro A Canetta, Gerald B Appel, Jai Radhakrishnan, Hernan Trimarchi, Ben Sprangers, Daniel C Cattran, Heather Reich, York Pei, Pietro Ravani, Kresimir Galesic, Dita Maixnerova, Vladimir Tesar, Benedicte Stengel, Marie Metzger, Guillaume Canaud, Nicolas Maillard, Francois Berthoux, Laureline Berthelot, Evangeline Pillebout, Renato Monteiro, Raoul Nelson, Robert J Wyatt, William Smoyer, John Mahan, Al-Akash Samhar, Guillermo Hidalgo, Alejandro Quiroga, Patricia Weng, Raji Sreedharan, David Selewski, Keefe Davis, Mahmoud Kallash, Tetyana L Vasylyeva, Michelle Rheault, Aftab Chishti, Daniel Ranch, Scott E Wenderfer, Dmitry Samsonov, Donna J Claes, Oleh M Akchurin, Dimitrios Goumenos, Maria J Stangou, Judit Nagy, Tibor Kovacs, Enrico Fiaccadori, Antonio Amoroso, Cristina Barlassina, Daniele Cusi, Lucia Del Vecchio, Giovanni Giorgio Battaglia, Monica Bodria, Emanuela Boer, Luisa Bono, Giuliano Boscutti, Gianluca Caridi, Francesca Lugani, Gian Marco Ghiggeri, Rosanna Coppo, Licia Peruzzi, Vittoria Esposito, Ciro Esposito, Sandro Feriozzi, Rosaria Polci, Giovanni Frasca, Marco Galliani, Maurizio Garozzo, Adele Mitrotti, Loreto Gesualdo, Simona Granata, Gianluigi Zaza, Francesco Londrino, Riccardo Magistroni, Isabella Pisani, Andrea Magnano, Carmelita Marcantoni, Piergiorgio Messa, Renzo Mignani, Antonello Pani, Claudio Ponticelli, Dario Roccatello, Maurizio Salvadori, Erica Salvi, Domenico Santoro, Guido Gembillo, Silvana Savoldi, Donatella Spotti, Pasquale Zamboli, Claudia Izzi, Federico Alberici, Elisa Delbarba, Michał Florczak, Natalia Krata, Krzysztof Mucha, Leszek Pączek, Stanisław Niemczyk, Barbara Moszczuk, Malgorzata Pańczyk-Tomaszewska, Malgorzata Mizerska-Wasiak, Agnieszka Perkowska-Ptasińska, Teresa Bączkowska, Magdalena Durlik, Krzysztof Pawlaczyk, Przemyslaw Sikora, Marcin Zaniew, Dorota Kaminska, Magdalena Krajewska, Izabella Kuzmiuk-Glembin, Zbigniew Heleniak, Barbara Bullo-Piontecka, Tomasz Liberek, Alicja Dębska-Slizien, Tomasz Hryszko, Anna Materna-Kiryluk, Monika Miklaszewska, Shaji K Kumar, Katarzyna Dyga, Edyta Machura, Katarzyna Siniewicz-Luzeńczyk, Monika Pawlak-Bratkowska, Marcin Tkaczyk, Dariusz Runowski, Norbert Kwella, Dorota Drożdż, Ireneusz Habura, Florian Kronenberg, Larisa Prikhodina, David A van Heel, Bertrand Fontaine, Chris Cotsapas, Cisca Wijmenga, Andre Franke, Vito Annese, Peter K Gregersen, Sreeja Parameswaran, Matthew T Weirauch, Leah C Kottyan, John B Harley, Hitoshi Suzuki, Ichiei Narita, Shin Goto, Hajeong Lee, Dong-Ki Kim, Yon Su Kim, Jin Ho Park, BeLong Cho, Murim Choi, Ans Van Wijk, Ana Huerta, Elisabet Ars, Jose Ballarin, Sigrid Lundberg, Bruno Vogt, Laila-Yasmin Mani, Yasar Caliskan, Jonathan Barratt, Thilini Abeygunaratne, Philip A Kalra, Daniel P Gale, Ulf Panzer, Thomas Rauen, Jürgen Floege, Pascal Schlosser, Arif Bülent Ekici, Kai Uwe Eckardt, Nan Chen, Jingyuan Xie, Richard P Lifton, Ruth J F Loos, Eimear E Kenny, Iuliana Ionita-Laza, Anna Kottgen, Bruce A Julian, Jan Novak, Francesco Scolari, Hong Zhang, Ali G Gharavi
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature genetics (2023)
Monica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí-Fàbregas, María Del Prado Venegas, Jaume Crespi, Esther Roe, Roser Torra
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. Case reports in genetics 2022 (2022)
Monica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí-Fàbregas, María Del Prado Venegas, Jaume Crespi, Esther Roe, Roser Torra
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. Case reports in genetics 2022 (2022)
Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Stefania Lipska-Ziętkiewicz, Joel T Gibson
Digenic Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 17 (11) (2022)
Roser Torra, Monica Furlano, Alberto Ortiz Arduan, Elisabet Ars
Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports. Clinical kidney journal 14 (8) (2021)
Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Guidelines for Genetic Testing and Management of Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 17 (1) (2021)
Roser Torra, Monica Furlano, Elisabet Ars
How genomics reclassifies diseases: the case of Alport syndrome. Clinical kidney journal 13 (6) (2020)
Andrea Domingo-Gallego, Mónica Furlano, Marc Pybus, Daniel Barraca, Ana Belén Martínez, Emiliano Mora Muñoz, Roser Torra, Elisabet Ars
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. BMC nephrology 20 (1) (2019)

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Publication Activity (10 Years)

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Elisabet Ars