Helger G. Yntema

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 519 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16