Kathy Williamson

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 259 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

The gene for the cyclin-dependent-kinase-4 inhibitor, CDKN2A, is preferentially deleted in malignant mesothelioma

Jan‐Bas Prins, Kathy Williamson, Marga Kamp et al. · International Journal of Cancer · 1998 · 92 citations · Full text

Life Sciences, Genetics, Oncology +17

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Miriam Schmidts, Yuqing Hou, Claudio R. Cortés et al. · Nature Communications · 2015 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

Judy Fantes, Kathy Oghene, Shelagh Boyle et al. · Genomics · 1995 · 59 citations

Life Sciences, Genetics, Molecular Genetics +11