This study surveys 3,000 French individuals to assess their knowledge and misconceptions about medical genetics, revealing limited understanding and significant gaps in awareness of genetic testing limitations and legal frameworks.

medRxiv · Jul 19, 2026 · PreprintGenetic & Genomic Medicine

Mapping the temporal and functional landscape of Sonic Hedgehog signaling reveals new insights into early human forebrain development

Veranika Panasenkava, Jules Garreau, Hélène Guyodo, Farah Diab, Ariane Mahieux, Wilfrid Carré, Yann Verrès, Emmanuelle Jullion, Sylvie Odent, Christèle Dubourg, Paul Rollier, Lauryane Dubos, Vanessa Ribes, Anne Camus, Marie de Tayrac, Valérie Dupé

This study maps the temporal and functional landscape of Sonic Hedgehog signaling in human forebrain development using stem cell models and identifies new markers of regionalization.

bioRxiv · May 20, 2025 · PreprintDevelopmental Biology

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu, Matheus Vernet Machado Bressan Wilke, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen, Susan Starling Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie‐José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, , Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

medRxiv · Apr 24, 2024 · PreprintGenetic & Genomic Medicine

Deficiency of U4atac snRNA secondarily results in ciliary defects

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie Alice Dupont, Clara Benoit‐Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert‐Bellanger, Pierre Blanc, Thomas Rambaud, , Marion Delous

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

Proceedings of the National Academy of Sciences · Feb 21, 2023Peer-reviewedGenetic & Genomic Medicine

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, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat‐Houari, Brad Angle, Nicolas Chatron, the DDD study, Anne‐Sophie Denommé‐Pichon, Orrin Devinsky, , Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

Genetics in Medicine · Jul 14, 2022Peer-reviewedGenetic & Genomic Medicine

Gene editing is suitable to treat GM1 Gangliosidosis: a proof-of-concept study

Delphine Leclerc, Louise Goujon, Sylvie Jaillard, Bénédicte Nouyou, Laurence Cluzeau, Léna Damaj, Christèle Dubourg, Amandine Etcheverry, Thierry Levade, Roseline Froissart, Stéphane Dréano, X. Guillory, Leif Axel Eriksson, Erika Launay, F. Mouriaux, , David Gilot

This study shows that adenine base editors can correct 41% of GLB1 pathogenic SNVs in patient-derived fibroblasts, restoring β-gal activity without significant off-target effects.

bioRxiv · Apr 17, 2022 · PreprintGenetics

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Manickavasagam Amudhavalli, Siddarth Banka, Frederique Sloan Bena, Bruria Ben‐Zeev, Vincent Robert Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, , Lisenka E.L.M. Vissers

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

The American Journal of Human Genetics · Jan 28, 2021Peer-reviewedGenetics