Publications by authors named "Mathys Weber"

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Genetic screening of the RNA-binding protein RBM24 and its binding sites in the 3' untranslated region in a cohort of 50 patients with micro-anophthalmia.
Julien Noero, Mathys Weber, Nicolas Chassaing, Véronique Gaston, Julie Plaisancié

Ophthalmic Genet· June 2025

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans

Genet Med· November 2023

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner, Mathys Weber

Genet Med· July 2023

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans

Genet Med· October 2022

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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Flavien Rouxel, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael Levy, Mathys Weber

Genet Med· May 2022

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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Smitha Kumble, Amanda M Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew

Hum Mutat· February 2022

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