Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 592A>G; Ile198Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.

Journal Of The American Heart Association

Resdal Dyssekilde, Johnni J; Frederiksen, Tanja Charlotte TC; Christiansen, Morten Krogh MK; Hasle Sørensen, Rikke R; Pedersen, Lisbeth Nørum LN; Loof Møller, Peter P; Christensen, Lene Svendstrup LS; Larsen, Jacob Moesgaard JM; Thomsen, Kristian Korsgaard KK; Lindhardt, Tommi Bo TB; Böttcher, Morten M; Molsted, Stig S; Havndrup, Ole O; Fischer, Thomas T; Møller, Dorthe Svenstrup DS; Henriksen, Finn Lund FL; Johansen, Jens Brock JB; Nielsen, Jens Cosedis JC; Bundgaard, Henning H; Nygaard, Mette M; Jensen, Henrik Kjærulf HK

Publication Date: 2022-05-03

Variant appearance in text: KCNQ1: 592A>G; Ile198Val

PubMed Link: 35470684

Variant Present in the following documents:

• Main text

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 592A>G; Ile198Val; rs199472700

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNQ1: 592A>G; Ile198Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: I198V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf
• Table_1.xlsx, sheet 1

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association

Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM

Publication Date: 2020-02-04

Variant appearance in text: KCNQ1: Ile198Val

PubMed Link: 32009526

Variant Present in the following documents:

• Main text
• JAH3-9-e013808.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199472700

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: KCNQ1: 592A>G; I198V; rs199472700

PubMed Link: 27650965

Variant Present in the following documents:

• Main text

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Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Bmc Medical Genetics

Christiansen, Michael M; Hedley, Paula L PL; Theilade, Juliane J; Stoevring, Birgitte B; Leren, Trond P TP; Eschen, Ole O; Sørensen, Karina M KM; Tybjærg-Hansen, Anne A; Ousager, Lilian B LB; Pedersen, Lisbeth N LN; Frikke-Schmidt, Ruth R; Aidt, Frederik H FH; Hansen, Michael G MG; Hansen, Jim J; Bloch Thomsen, Poul E PE; Toft, Egon E; Henriksen, Finn L FL; Bundgaard, Henning H; Jensen, Henrik K HK; Kanters, Jørgen K JK

Publication Date: 2014-03-07

Variant appearance in text: KCNQ1: I198V

PubMed Link: 24606995

Variant Present in the following documents:

• Main text
• 1471-2350-15-31.pdf

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: KCNQ1: I198V

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

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