Author
Hôpital Necker-Enfants MaladesORCID 0000-0001-5973-4728Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce…·Lenka Nosková
The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.
Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill
The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.
Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel…·Isabelle Perrault
This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.
Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang…·Erwin Brosens
The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.