Djie Tjwan Thung

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

Intellectual Impairment, Genetics, Severe Intellectual Disability +4

Characteristics of de novo structural changes in the human genome

Wigard P. Kloosterman, Laurent C. Francioli, Fereydoun Hormozdiari et al. · Genome Research · 2015 · 136 citations · Full text

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Jayne Y. Hehir‐Kwa, Tobias Marschall, Wigard P. Kloosterman et al. · Nature Communications · 2016 · 113 citations · Full text

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Djie Tjwan Thung, Joep de Ligt, Lisenka E.L.M. Vissers et al. · Genome biology · 2014 · 101 citations · Full text

BRCA Testing by Single-Molecule Molecular Inversion Probes

Kornelia Neveling, Arjen R. Mensenkamp, Ronny Derks et al. · Clinical Chemistry · 2016 · 63 citations · Full text