Author
University of Social Welfare and Rehabilitation SciencesORCID 0000-0001-8989-5741Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos…·Alexandre Reymond
The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.
Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli…·Konrad Platzer
The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.
Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha…·Muhammad Ansar
The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.