Author
Amsterdam Reproduction DevelopmentORCID 0000-0002-2283-7405Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson…·Guang Yang
The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.
María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin
This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden
The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.