Bill H. Diplas

TERT PROMOTER MUTATIONS OCCUR FREQUENTLY IN GLIOMAS AND A SUBSET OF TUMORS DERIVED FROM CELLS WITH LOW RATES OF SELF-RENEWAL

Hai Yan, Patrick Killela, Zachary J. Reitman et al. · Neuro-Oncology · 2014 · 533 citations · Full text

Neuro-oncology, Lineage Plasticity, Somatic Variant +15

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Mutations in <i>IDH1</i>, <i>IDH2</i>, and in the <i>TERT</i> promoter define clinically distinct subgroups of adult malignant gliomas

Patrick Killela, Christopher J. Pirozzi, Patrick Healy et al. · Oncotarget · 2014 · 255 citations · Full text

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

Dongsheng Huang, Zhaohui Wang, Xujun He et al. · European Journal of Cancer · 2015 · 190 citations · Full text

Tumor Biology, Somatic Variant, Tumor Heterogeneity +11

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Sheikh Riazuddin, Norann A. Zaghloul, Amr Al‐Saif et al. · The American Journal of Human Genetics · 2010 · 185 citations · Full text

Missense Mutations, Chromosome 9P, Genetic Disorder +6