Publications:

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Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Brain : A Journal Of Neurology

Suetterlin, Karen K; Matthews, Emma E; Sud, Richa R; McCall, Samuel S; Fialho, Doreen D; Burge, James J; Jayaseelan, Dipa D; Haworth, Andrea A; Sweeney, Mary G MG; Kullmann, Dimitri M DM; Schorge, Stephanie S; Hanna, Michael G MG; Männikkö, Roope R

Publication Date: 2022-04-18

Variant appearance in text: ClC-1: Thr268Met

PubMed Link: 34529042

Variant Present in the following documents:

• Main text
• awab344.pdf
• awab344_supplementary_data.pdf

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CLCN1: T268M

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

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Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Plos One

Zhao, Chenyu C; Tang, DongFang D; Huang, Hui H; Tang, Haiyan H; Yang, Yuan Y; Yang, Min M; Luo, Yingying Y; Tao, Huai H; Tang, Jianguang J; Zhou, Xi X; Shi, Xiaoliu X

Publication Date: 2020

Variant appearance in text: CLCN1: T268M

PubMed Link: 32407401

Variant Present in the following documents:

• Main text
• pone.0233017.pdf

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Myotonic disorders and pregnancy.

Obstetric Medicine

Morton, Adam A

Publication Date: 2020-03

Variant appearance in text: CLCN1: Thr268Met

PubMed Link: 32284727

Variant Present in the following documents:

• Main text

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An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.

Frontiers In Neurology

Morales, Fernando F; Pusch, Michael M

Publication Date: 2019

Variant appearance in text: CLCN1: 803C>T

PubMed Link: 32010054

Variant Present in the following documents:

• Main text
• fneur-10-01404.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CLCN1: 803C>T; T268M

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012).

Plos One

Zierath, Sharon S; Hughes, Angela M AM; Fretwell, Neale N; Dibley, Mark M; Ekenstedt, Kari J KJ

Publication Date: 2017

Variant appearance in text: CLCN1: T268M

PubMed Link: 29166669

Variant Present in the following documents:

• Main text
• pone.0188543.pdf

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Canine and Feline Models of Human Genetic Diseases and Their Contributions to Advancing Clinical Therapies
.

The Yale Journal Of Biology And Medicine

Gurda, Brittney L BL; Bradbury, Allison M AM; Vite, Charles H CH

Publication Date: 2017-09

Variant appearance in text: CLCN1: 803C>T

PubMed Link: 28955181

Variant Present in the following documents:

• Main text
• yjbm_90_3_417.pdf

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: CLCN1: T268M; rs80356687

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

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DNA testing in neurologic diseases.

Journal Of Veterinary Internal Medicine

O'Brien, D P DP; Leeb, T T

Publication Date: 2014

Variant appearance in text: CLCN1: 803C>T

PubMed Link: 24962505

Variant Present in the following documents:

• Main text

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CLCN1: T268M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Plos One

Skálová, Daniela D; Zídková, Jana J; Voháňka, Stanislav S; Mazanec, Radim R; Mušová, Zuzana Z; Vondráček, Petr P; Mrázová, Lenka L; Kraus, Josef J; Réblová, Kamila K; Fajkusová, Lenka L

Publication Date: 2013

Variant appearance in text: CLCN1: 803C>T

PubMed Link: 24349310

Variant Present in the following documents:

• Main text
• pone.0082549.pdf

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Involvement of helices at the dimer interface in ClC-1 common gating.

The Journal Of General Physiology

Duffield, Michael M; Rychkov, Grigori G; Bretag, Allan A; Roberts, Michael M

Publication Date: 2003-02

Variant appearance in text: ClC-1: T268M

PubMed Link: 12566541

Variant Present in the following documents:

• Main text
• 20028741.pdf

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