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Bioinformatics (Oxford, England)|March 29, 2019
Graph analysis of fragmented long-read bacterial genome assembliesPierre Marijon, Rayan Chikhi, Jean-Stéphane Varré
Bioinformatics (Oxford, England)|April 22, 2020
yacrd and fpa: upstream tools for long-read genome assemblyPierre Marijon, Rayan Chikhi, Jean-Stéphane Varré
Bioinformatics Advances|January 26, 2023
Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF fileSacha Schutz, Charles Monod-Broca, Lucas Bourneuf, et al.
Bioinformatics (Oxford, England)|July 29, 2022
The K-mer File Format: a standardized and compact disk representation of sets of k-mersYoann Dufresne, Teo Lemane, Pierre Marijon, et al.
European Journal of Human Genetics : EJHG|February 15, 2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesisDavid Haïm, Nathalie Roux, Lucile Boutaud, et al.
Pediatric Nephrology (Berlin, Germany)|May 14, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninismLuisa Marsili, Matthieu Mantecon, Christelle Arrondel, et al.
Kidney International|October 8, 2025
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)Lucie Menguy, Laurent Hudier, Mohamad Zaidan, et al.
Respiratory Medicine and Research|May 11, 2026
The preponderance of genetic variations in paediatric pulmonary hypertensionJulien Grynblat, Mélanie Eyries, Marine Ambar-Akkaoui, et al.
Nature Biotechnology|December 8, 2020
Fully phased human genome assembly without parental data using single-cell strand sequencing and long readsDavid Porubsky, Peter Ebert, Peter A Audano, et al.
Human Reproduction (Oxford, England)|September 24, 2025
SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI geneAnna Lokchine, Fang Zhang, Laurence Cluzeau, et al.
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