Richard van Jaarsveld

Assistant Professor

Recent publications

Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey Jasper J. van der Smagt, Angeliki P. Lampri, Iris de Lange, Mariëlle Alders, Michiel L. Houben, Marco J. Koudijs, Richard H. van Jaarsveld
European Journal of Medical Genetics, 2024, vol. 69
HNRNPH1-related syndromic intellectual disability Sara C. Reichert, Rachel Li, Scott A. Turner, Richard H. van Jaarsveld, Maarten P.G. Massink, Marie José H. van den Boogaard, Mireia del Toro, Agustí Rodríguez-Palmero, Stéphane Fourcade, Agatha Schlüter, Laura Planas-Serra, Aurora Pujol, Maria Iascone, Silvia Maitz, Lucy Loong, Helen Stewart, Elisa De Franco, Sian Ellard, Julie Frank, Raymond Lewandowski
Clinical Genetics, 2020, vol. 98, p.91-98