Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance

Authors: Corey L. Anderson, Emma R. Langer, Timothy C. Routes, Seamus F. McWilliams, Igor Bereslavskyy, Timothy J. Kamp, Lee L. Eckhardt

Source: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/cb36d873da8841c288bf1a7f3c726247

How Functional Genomics Can Keep Pace With VUS Identification

Authors: Corey L. Anderson, Saba Munawar, Louise Reilly, Timothy J. Kamp, Craig T. January, Brian P. Delisle, Lee L. Eckhardt

Source: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Subject Terms: functional genomics, VUS classification, cardiac genetics, high through put screening, inherited arrhythmia, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2022.900431/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/ae94dfc1a53e416cbf25d2dfb342f9e2

Molecular pathogenesis of long QT syndrome type 2

Authors: Jennifer L. Smith, Corey L. Anderson, Don E. Burgess, Claude S. Elayi, Craig T. January, Brian P. Delisle

Source: Journal of Arrhythmia, Vol 32, Iss 5, Pp 373-380 (2016)

Subject Terms: Long QT syndrome, Ion channel, Trafficking, KCNH2, hERG, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1880427615001726; https://doaj.org/toc/1880-4276

Access URL: https://doaj.org/article/d1d285f11e3e4d959b2f9c7343ba81c9

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients

Authors: Makoto Ono, Don E. Burgess, Elizabeth A. Schroder, Claude S. Elayi, Corey L. Anderson, Craig T. January, Bin Sun, Kalyan Immadisetty, Peter M. Kekenes-Huskey, Brian P. Delisle

Source: Biomolecules, Vol 10, Iss 8, p 1144 (2020)

Subject Terms: long QT syndrome, ion channel, trafficking, KCNH2, hERG, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/10/8/1144; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/d221839e65a84164b8bd586edb236d23

Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2

Authors: Allison R. Hall, Corey L. Anderson, Jennifer L. Smith, Tooraj Mirshahi, Claude S. Elayi, Craig T. January, Brian P. Delisle

Source: Frontiers in Physiology, Vol 9 (2018)

Subject Terms: K+ channel, trafficking, long QT syndrome, arrhythmia, Kv11.1, hERG, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fphys.2018.00584/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/ef6660bea61a4ea193dc4062ec3e564d