Publications by authors named "Tristan Celse"

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Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.
Frederike L Harms, Christian Müller, Fanny Kortüm, Maja Hempel, Malik Alawi, Tristan Celse

Eur J Hum Genet· December 2025

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Rare features in Feingold syndrome type 1.
Fanny Ferroul, Sarah Snanoudj, Gaëlle Leterme, Kheira Mezouaghi, Marie Kieffer-Traversier, Tristan Celse

Eur J Med Genet· December 2025

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Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Jean-Luc Alessandri, Tristan Celse, Marta Spodenkiewicz, Anais Calaya, Coralie Dumont

Eur J Med Genet· June 2024

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duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec

J Med Genet· June 2023

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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Tristan Celse

J Med Genet· December 2022

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[Abstracts of the BIOMED J Congress, Paris].
Hichem Assami, Tristan Celse, Alexandre Regueme, Olivier Gaillot, Fabienne Soudre

Ann Biol Clin (Paris)· October 2021

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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Qunshan Shen, Guillaume Martinez, Hongbin Liu, Julie Beurois, Huan Wu, Tristan Celse

Hum Genet· September 2021

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Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Tristan Celse, Caroline Cazin, Flore Mietton, Guillaume Martinez, Delphine Martinez

Hum Genet· January 2021

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Genetics of teratozoospermia: Back to the head.
Julie Beurois, Caroline Cazin, Zine-Eddine Kherraf, Guillaume Martinez, Tristan Celse

Best Pract Res Clin Endocrinol Metab· December 2020

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