Danielle Perrin

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

Eliezer M. Van Allen, Nikhil Wagle, Petar Stojanov et al. · Nature Medicine · 2014 · 571 citations · Full text

Medicine, Oncology, Pathology +17

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

Maura Costello, Trevor J. Pugh, Timothy J. Fennell et al. · Nucleic Acids Research · 2013 · 568 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

MAP Kinase Pathway Alterations in <i>BRAF</i> -Mutant Melanoma Patients with Acquired Resistance to Combined RAF/MEK Inhibition

Nikhil Wagle, Eliezer M. Van Allen, Daniel J. Treacy et al. · Cancer Discovery · 2013 · 473 citations · Full text

Medicine, Oncology, Pharmacology +17

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe et al. · Nature Genetics · 2013 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12