Janneke Schuurs-Hoeijmakers

Presence of Genetic Variants Among Young Men With Severe COVID-19

Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers et al. · JAMA · 2020 · 832 citations · Full text

Life Sciences, Genetics, Immunology +13

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 820 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 758 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16