Publications by authors named "Pierre Marijon"

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Pierre Marijon

Am J Hum Genet· November 2025

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SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.
Anna Lokchine, Fang Zhang, Laurence Cluzeau, Lorrie Le Page, Marc-Antoine Belaud-Rotureau, Pierre Marijon

Hum Reprod· November 2025

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Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).
Lucie Menguy, Laurent Hudier, Mohamad Zaidan, Bertrand Knebelmann, John A Sayer, Pierre Marijon

Kidney Int· October 2025

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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia, Zahra Assouline, Pierre Marijon

Pediatr Nephrol· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Pierre Marijon

medRxiv· September 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Pierre Marijon

Nat Genet· June 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Pierre Marijon

medRxiv· April 2025

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Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.
David Haïm, Nathalie Roux, Lucile Boutaud, Laure Verlin, Chloé Quélin, Pierre Marijon

Eur J Hum Genet· March 2025

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Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Guillaume Dorval, Gérald Le Gac, Vincent Morinière, Chandran Ka, Claire Goursaud, Pierre Marijon

Kidney Int· September 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Pierre Marijon

Am J Hum Genet· August 2024

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A draft human pangenome reference.
Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Pierre Marijon

Nature· May 2023

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The K-mer File Format: a standardized and compact disk representation of sets of k-mers.
Yoann Dufresne, Teo Lemane, Pierre Marijon, Pierre Peterlongo, Amatur Rahman

Bioinformatics· September 2022

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Critical Assessment of Metagenome Interpretation: the second round of challenges.
Fernando Meyer, Adrian Fritz, Zhi-Luo Deng, David Koslicki, Till Robin Lesker, Pierre Marijon

Nat Methods· April 2022

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Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.
Sacha Schutz, Charles Monod-Broca, Lucas Bourneuf, Pierre Marijon, Tristan Montier

Bioinform Adv· November 2021

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Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
David Porubsky, Peter Ebert, Peter A Audano, Mitchell R Vollger, William T Harvey, Pierre Marijon

Nat Biotechnol· March 2021

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yacrd and fpa: upstream tools for long-read genome assembly.
Pierre Marijon, Rayan Chikhi, Jean-Stéphane Varré

Bioinformatics· June 2020

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Graph analysis of fragmented long-read bacterial genome assemblies.
Pierre Marijon, Rayan Chikhi, Jean-Stéphane Varré

Bioinformatics· November 2019

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