Jayne Y. Hehir‐Kwa

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

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 germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, C. Marleen Kets et al. · Nature Genetics · 2015 · 379 citations

Life Sciences, Genetics, Molecular Genetics +17

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression

Roland P. Kuiper, Eric Schoenmakers, S V van Reijmersdal et al. · Leukemia · 2007 · 360 citations

Life Sciences, Genetics, Molecular Genetics +14

The Genome of the Netherlands: design, and project goals

Dorret I. Boomsma, Cisca Wijmenga, P. Eline Slagboom et al. · European Journal of Human Genetics · 2013 · 284 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17