Médéric Jeanne

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 78 citations · Full text

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Mendelian Disorder +13

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT

Charlotte Zelin, Wendy K. Chung, Médéric Jeanne et al. · Journal of Biomedical Informatics · 2024 · 28 citations · Full text

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Robert Olaso et al. · European Journal of Human Genetics · 2021 · 21 citations · Full text

Sequencing, Next-generation Sequencing, Pediatric Intensive Care +11

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon et al. · Frontiers in Genetics · 2023 · 21 citations · Full text