Publications:

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: 1338C>A; Asp446Glu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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The genomic and epigenomic evolutionary history of papillary renal cell carcinomas.

Nature Communications

Zhu, Bin B; Poeta, Maria Luana ML; Costantini, Manuela M; Zhang, Tongwu T; Shi, Jianxin J; Sentinelli, Steno S; Zhao, Wei W; Pompeo, Vincenzo V; Cardelli, Maurizio M; Alexandrov, Boian S BS; Otlu, Burcak B; Hua, Xing X; Jones, Kristine K; Brodie, Seth S; Dabrowska, Malgorzata Ewa ME; Toro, Jorge R JR; Yeager, Meredith M; Wang, Mingyi M; Hicks, Belynda B; Alexandrov, Ludmil B LB; Brown, Kevin M KM; Wedge, David C DC; Chanock, Stephen S; Fazio, Vito Michele VM; Gallucci, Michele M; Landi, Maria Teresa MT

Publication Date: 2020-06-18

Variant appearance in text: KCNQ1: D446E

PubMed Link: 32555180

Variant Present in the following documents:

• 41467_2020_16546_MOESM7_ESM.xlsx, sheet 1

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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm

Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ

Publication Date: 2018-04

Variant appearance in text: KCNQ1: D446E

PubMed Link: 29197658

Variant Present in the following documents:

• Main text

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Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.

Journal Of Cardiovascular Translational Research

Kapplinger, Jamie D JD; Tseng, Andrew S AS; Salisbury, Benjamin A BA; Tester, David J DJ; Callis, Thomas E TE; Alders, Marielle M; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2015-04

Variant appearance in text: KCNQ1: D446E

PubMed Link: 25854863

Variant Present in the following documents:

• Main text

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