Erika M. Kvikstad, Ph.D.

Affiliations: 
Universite Lyon 1, Villeurbanne, Auvergne-Rhône-Alpes, France 
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"Erika Kvikstad"

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Kateryna Makova grad student 2003-2009 Penn State
 (Mechanisms of insertion and deletion mutations: Rate variation, context specificity, and impact on primate sex chromosome evolution.)
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Publications

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Pagnamenta AT, Camps C, Giacopuzzi E, et al. (2023) Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. Genome Medicine. 15: 94
Szustakowski JD, Balasubramanian S, Kvikstad E, et al. (2021) Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank. Nature Genetics
Kosmicki JA, Horowitz JE, Banerjee N, et al. (2021) Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals. American Journal of Human Genetics
Schwarze K, Buchanan J, Fermont JM, et al. (2019) The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Lenglet M, Robriquet F, Schwarz K, et al. (2018) New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease. Blood
Schuh A, Dreau H, Knight SJL, et al. (2018) Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing. Cold Spring Harbor Molecular Case Studies. 4
Kvikstad EM, Piazza P, Taylor JC, et al. (2018) A high throughput screen for active human transposable elements. Bmc Genomics. 19: 115
Kvikstad EM, Duret L. (2014) Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome. Molecular Biology and Evolution. 31: 23-36
Montgomery SB, Goode DL, Kvikstad E, et al. (2013) The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Research. 23: 749-61
Kvikstad EM, Makova KD. (2010) The (r)evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important. Genome Research. 20: 600-13
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