An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

Shona M. Kerr, Lucija Klaric, Mihail Halachev, Caroline Hayward, Thibaud S. Boutin, Alison M. Meynert, Colin A. Semple, Annukka M. Tuiskula, Heikki Swan, Javier Santoyo-Lopez, Veronique Vitart, Chris Haley, John Dean, Zosia Miedzybrodzka, Timothy J. Aitman, James F. Wilson

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Alkuperäiskielienglanti
Artikkeli10964
LehtiScientific Reports
Vuosikerta9
Sivumäärä11
ISSN2045-2322
DOI - pysyväislinkit
TilaJulkaistu - 29 heinäkuuta 2019
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

  • 1184 Genetiikka, kehitysbiologia, fysiologia
  • 3111 Biolääketieteet

Lainaa tätä

Kerr, S. M., Klaric, L., Halachev, M., Hayward, C., Boutin, T. S., Meynert, A. M., ... Wilson, J. F. (2019). An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort. Scientific Reports, 9, [10964]. https://doi.org/10.1038/s41598-019-47436-6
Kerr, Shona M. ; Klaric, Lucija ; Halachev, Mihail ; Hayward, Caroline ; Boutin, Thibaud S. ; Meynert, Alison M. ; Semple, Colin A. ; Tuiskula, Annukka M. ; Swan, Heikki ; Santoyo-Lopez, Javier ; Vitart, Veronique ; Haley, Chris ; Dean, John ; Miedzybrodzka, Zosia ; Aitman, Timothy J. ; Wilson, James F. / An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort. Julkaisussa: Scientific Reports. 2019 ; Vuosikerta 9.
@article{62385e60f5c2485c8aed06c7efc34421,
title = "An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort",
keywords = "CHANNEL MUTATIONS, GENETIC-VARIATION, HERG, STATEMENT, INFERENCE, SPECTRUM, ORIGIN, POLICY, KVLQT1, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine",
author = "Kerr, {Shona M.} and Lucija Klaric and Mihail Halachev and Caroline Hayward and Boutin, {Thibaud S.} and Meynert, {Alison M.} and Semple, {Colin A.} and Tuiskula, {Annukka M.} and Heikki Swan and Javier Santoyo-Lopez and Veronique Vitart and Chris Haley and John Dean and Zosia Miedzybrodzka and Aitman, {Timothy J.} and Wilson, {James F.}",
year = "2019",
month = "7",
day = "29",
doi = "10.1038/s41598-019-47436-6",
language = "English",
volume = "9",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",

}

Kerr, SM, Klaric, L, Halachev, M, Hayward, C, Boutin, TS, Meynert, AM, Semple, CA, Tuiskula, AM, Swan, H, Santoyo-Lopez, J, Vitart, V, Haley, C, Dean, J, Miedzybrodzka, Z, Aitman, TJ & Wilson, JF 2019, 'An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort', Scientific Reports, Vuosikerta 9, 10964. https://doi.org/10.1038/s41598-019-47436-6

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort. / Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F.

julkaisussa: Scientific Reports, Vuosikerta 9, 10964, 29.07.2019.

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

TY - JOUR

T1 - An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

AU - Kerr, Shona M.

AU - Klaric, Lucija

AU - Halachev, Mihail

AU - Hayward, Caroline

AU - Boutin, Thibaud S.

AU - Meynert, Alison M.

AU - Semple, Colin A.

AU - Tuiskula, Annukka M.

AU - Swan, Heikki

AU - Santoyo-Lopez, Javier

AU - Vitart, Veronique

AU - Haley, Chris

AU - Dean, John

AU - Miedzybrodzka, Zosia

AU - Aitman, Timothy J.

AU - Wilson, James F.

PY - 2019/7/29

Y1 - 2019/7/29

KW - CHANNEL MUTATIONS

KW - GENETIC-VARIATION

KW - HERG

KW - STATEMENT

KW - INFERENCE

KW - SPECTRUM

KW - ORIGIN

KW - POLICY

KW - KVLQT1

KW - 1184 Genetics, developmental biology, physiology

KW - 3111 Biomedicine

U2 - 10.1038/s41598-019-47436-6

DO - 10.1038/s41598-019-47436-6

M3 - Article

VL - 9

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

M1 - 10964

ER -