Antonio Rausell

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 12

Top Topics

Dna Methylation

Top Venues

European journal of human genetics : EJHG

Cellular & molecular immunology

Nature biotechnology

Genome medicine

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

Publications

Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Barthelemy Caron, Etienne Patin, Maxime Rotival, Bruno Charbit, Matthew L Albert, Lluis Quintana-Murci, Darragh Duffy, Antonio Rausell, null null
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes. Genome medicine 14 (1) (2022)
Akira Cortal, Loredana Martignetti, Emmanuelle Six, Antonio Rausell
Gene signature extraction and cell identity recognition at the single-cell level with Cell-ID. Nature biotechnology 39 (9) (2021)
Francisco Requena, Hamza Hadj Abdallah, Alejandro García, Patrick Nitschké, Sergi Romana, Valérie Malan, Antonio Rausell
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. Nucleic acids research 49 (W1) (2021)
Ranjita Devi Moirangthem, Kuiying Ma, Sabrina Lizot, Anne Cordesse, Juliette Olivré, Corinne de Chappedelaine, Akshay Joshi, Agata Cieslak, John Tchen, Nicolas Cagnard, Vahid Asnafi, Antonio Rausell, Laura Simons, Julien Zuber, Tom Taghon, Frank J T Staal, Françoise Pflumio, Emmanuelle Six, Marina Cavazzana, Chantal Lagresle-Peyrou, Tayebeh Soheili, Isabelle André
A DL-4- and TNFα-based culture system to generate high numbers of nonmodified or genetically modified immunotherapeutic human T-lymphoid progenitors. Cellular & molecular immunology 18 (7) (2021)
Antonio Rausell, Yufei Luo, Marie Lopez, Yoann Seeleuthner, Franck Rapaport, Antoine Favier, Peter D Stenson, David N Cooper, Etienne Patin, Jean-Laurent Casanova, Lluis Quintana-Murci, Laurent Abel
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Proceedings of the National Academy of Sciences of the United States of America 117 (24) (2020)
Barthélémy Caron, Yufei Luo, Antonio Rausell
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. Genome biology 20 (1) (2019)
Sylvie Rato, Antonio Rausell, Miguel Muñoz, Amalio Telenti, Angela Ciuffi
Single-cell analysis identifies cellular markers of the HIV permissive cell. PLoS pathogens 13 (10) (2017)