Antonio Rausell
Paris, 75015, France
Last Updated: 09/26/2026
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Found 29 publications
NCBoost v2: a classifier for non-coding single-nucleotide variants in Mendelian diseases.
Journal: Bioinformatics (Oxford, England)
Published: August 18, 2025
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.
Journal: Genome medicine
Published: July 08, 2025
Federated learning for the pathogenicity annotation of genetic variants in multi-site clinical settings.
Journal: Bioinformatics (Oxford, England)
Published: March 21, 2025
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Journal: European journal of human genetics : EJHG
Published: January 18, 2024
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Journal: BMC medical genomics
Published: October 21, 2022
Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Journal: Cell reports. Medicine
Published: July 06, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Journal: American journal of human genetics
Published: November 16, 2021
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes.
Journal: Genome medicine
Published: June 10, 2021
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Journal: Nucleic acids research
Published: March 07, 2021
A DL-4- and TNFα-based culture system to generate high numbers of nonmodified or genetically modified immunotherapeutic human T-lymphoid progenitors.
Journal: Cellular & molecular immunology
Published: October 27, 2020
Last Updated: 09/26/2026