Yumi Kasai

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 444 citations

Ocular Disease, C-terminal Truncations, Retina +8

Massive parallel sequencing uncovers actionable FGFR2–PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma

Daniela Sia, Bojan Losic, Agrin Moeini et al. · Nature Communications · 2015 · 284 citations · Full text

Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia

Michael H. Tomasson, Zhifu Xiang, Richard A. Walgren et al. · Blood · 2008 · 221 citations · Full text

Novel <i>MEK1</i> Mutation Identified by Mutational Analysis of Epidermal Growth Factor Receptor Signaling Pathway Genes in Lung Adenocarcinoma

Jenifer L. Marks, Yixuan Gong, Dhananjay Chitale et al. · Cancer Research · 2008 · 207 citations · Full text

Analytical validation of whole exome and whole genome sequencing for clinical applications

Michael D. Linderman, Tracy Brandt, Lisa Edelmann et al. · BMC Medical Genomics · 2014 · 122 citations · Full text