Publications

• Pubmed
• Google Scholar
• orcid.org/0000-0002-2730-4472

New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease Blood (submitted).

Anna Schuh, Helene Dreau, Samantha JL Knight, Rosanna T Mizani, Richard Colling, Dimitris Vavoulis, Kate Ridout, Pavlos Antoniou, Erika M. Kvikstad, Melissa M. Pentony, Angela Hamblin, Andrew Protheroe, Marina Parton, Ketan A Shah, Orosz Zsolt, Nick Athanasou, Bass Hassan, Adrienne M Flanagan, Ahmed Ahmed, Stuart Winter, Adrian Harris, I Tomlinson, Niko Popitsch, David Church, Jenny C Taylor. (2018) Whole Genome Sequencing reveals clinically actionable mutation profiles in patients with cancer. Molecular Case Studies (accepted).

Kvikstad, E.M., Piazza, P., Taylor, J.C., Lunter, G. (2018) A high throughput screen for active human transposable elements. BMC Genomics 19: 115.

Kvikstad E.M., Piazza P., Taylor J.C., Lunter, G. (2017) A high throughput screen for active human transposable elements. bioRxiv doi: 10.1101/192708.

Kvikstad E.M., Duret L. (2014) Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations. Molecular Biology and Evolution 31(1):23-36.

Kvikstad E.M., Makova K.D. (2013) Rapid evolution of genes on the human X-chromosome version 2.0. In: Encyclopedia of Life Sciences. John Wiley & Sons, Ltd: Chichester.

Montgomery S.B.*, Goode D*, Kvikstad E*, Albers K, Zhang Z, Mu XJ, Ananda G, Howie B, The 1000 Genomes Pilot Project Consortium, Sidow A, Duret L, Gerstein M, Makova K, Marchini J, McVean G, Lunter G. (2013) The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Research 23(5): 749-61. * joint first authors

Kvikstad E.M., Makova K.D. (2010) The (r)evolution of SINE vs. LINE distributions in primate genomes: Sex chromosomes are important. Genome Research 20: 600-613. featured cover

Kvikstad E.M., Chiaromonte F., Makova K.D. (2009) Ride the wavelet: Scale specific dynamics of genomic contexts flanking small insertions and deletions. Genome Research 19: 1153-1164.

Kvikstad E.M., Makova K.D. (2008) Rapid evolution of genes on the human X-chromosome. In: Encyclopedia of Life Sciences. John Wiley & Sons, Ltd: Chichester.

Kvikstad E.M., Tyekucheva S., Chiaromonte F., Makova K.D. (2007) A macaque’s-eye view of human insertions and deletions: Differences in mechanisms. PLoS Comp Bio 3(9): e176.

Zhou S, Kile A, Bechner M, Place M, Kvikstad E, Deng W, Wei J, Severin J, Runnheim R, Churas C, Forrest D, Dimalanta ET, Lamers C, Burland V, Blattner FR, Schwartz DC. (2004) Single-molecule approach to bacterial genomic comparisons via optical mapping. J Bacteriol. 186(22): 7773-82.

Zhou S, Kile A, Kvikstad E, Bechner M, Severin J, Forrest D, Runnheim R, Churas C, Anantharaman TS, Myler P, Vogt C, Ivens A, Stuart K, Schwartz DC. (2004) Shotgun optical mapping of the entire Leishmania major Friedlin genome. Mol Biochem Parasitol. 138(1):97-106.

Zhou S, Kvikstad E, Kile A, Severin J, Forrest D, Runnheim R, Churas C, Hickman JW, Mackenzie C, Choudhary M, Donohue T, Kaplan S, Schwartz DC. (2003) Whole-genome shotgun optical mapping of Rhodobacter sphaeroides strain 2.4.1 and its use for whole genome shotgun sequence assembly. Genome Research 13(9): 2142-51.

Zhou S, Deng W, Anantharaman TS, Lim A, Dimalanta ET, Wang J, Wu T, Chunhong T, Creighton R, Kile A, Kvikstad E, Bechner M, Yen G, Garic-Stankovic A, Severin J, Forrest D, Runnheim R, Churas C, Lamers C, Perna NT, Burland V, Blattner FR, Mishra B, Schwartz DC. (2002) A Whole Genome Shotgun Optical Map of Yersinia Pestis Strain KIM. Applied and Environmental Microbiology 68: 6321-6331.