Publications:

---

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

International Journal Of Molecular Sciences

Almomani, Rowida R; Sopacua, Maurice M; Marchi, Margherita M; Ślęczkowska, Milena M; Lindsey, Patrick P; de Greef, Bianca T A BTA; Hoeijmakers, Janneke G J JGJ; Salvi, Erika E; Merkies, Ingemar S J ISJ; Ferdousi, Maryam M; Malik, Rayaz A RA; Ziegler, Dan D; Derks, Kasper W J KWJ; Boenhof, Gidon G; Martinelli-Boneschi, Filippo F; Cazzato, Daniele D; Lombardi, Raffaella R; Dib-Hajj, Sulayman S; Waxman, Stephen G SG; Smeets, Hubert J M HJM; Gerrits, Monique M MM; Faber, Catharina G CG; Lauria, Giuseppe G; On Behalf Of The Propane Study Group,

Publication Date: 2023-05-05

Variant appearance in text: SCN1B: 457G>A

PubMed Link: 37175987

Variant Present in the following documents:

• Main text
• ijms-24-08278.pdf

View BVdb publication page

---

Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: SCN1B: 457G>A; Asp153Asn

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

---

Molecular Pathology of Sodium Channel Beta-Subunit Variants.

Frontiers In Pharmacology

Angsutararux, Paweorn P; Zhu, Wandi W; Voelker, Taylor L TL; Silva, Jonathan R JR

Publication Date: 2021

Variant appearance in text: SCN1B: D153N

PubMed Link: 34867379

Variant Present in the following documents:

• Main text
• fphar-12-761275.pdf

View BVdb publication page

---

Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: SCN1B: 457G>A; Asp153Asn

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: SCN1B: 457G>A; Asp153Asn; rs72550247

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN1B: D153N; rs72550247

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Frontiers In Physiology

Edokobi, Nnamdi N; Isom, Lori L LL

Publication Date: 2018

Variant appearance in text: SCN1B: D153N

PubMed Link: 29740331

Variant Present in the following documents:

• Main text
• fphys-09-00351.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN1B: 457G>A; Asp153Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Genome Research

Methner, D Nicole R DN; Scherer, Steven E SE; Welch, Katherine K; Walkiewicz, Magdalena M; Eng, Christine M CM; Belmont, John W JW; Powell, Mark C MC; Korchina, Viktoriya V; Doddapaneni, Harsha Vardhan HV; Muzny, Donna M DM; Gibbs, Richard A RA; Wolf, Dwayne A DA; Sanchez, Luis A LA; Kahn, Roger R

Publication Date: 2016-09

Variant appearance in text: SCN1B: D153N

PubMed Link: 27435932

Variant Present in the following documents:

• 1170.pdf

View BVdb publication page

---

Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review

Mahida, Saagar S

Publication Date: 2014-08

Variant appearance in text: SCN1B: D153N

PubMed Link: 26835069

Variant Present in the following documents:

• Main text

View BVdb publication page

---

On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.

Frontiers In Pharmacology

Baroni, Debora D; Moran, Oscar O

Publication Date: 2015

Variant appearance in text: SCN1B: D153N

PubMed Link: 26042039

Variant Present in the following documents:

• Main text
• fphar-06-00108.pdf

View BVdb publication page

---

Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: SCN1B: 457G>A; Asp153Asn

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Monogenic atrial fibrillation as pathophysiological paradigms.

Cardiovascular Research

Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT

Publication Date: 2011-03-01

Variant appearance in text: SCN1B: D153N

PubMed Link: 21123219

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Circulation. Arrhythmia And Electrophysiology

Watanabe, Hiroshi H; Darbar, Dawood D; Kaiser, Daniel W DW; Jiramongkolchai, Kim K; Chopra, Sameer S; Donahue, Brian S BS; Kannankeril, Prince J PJ; Roden, Dan M DM

Publication Date: 2009-06

Variant appearance in text:

PubMed Link: 19808477

Variant Present in the following documents:

• Main text

View BVdb publication page

---