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: SCN10A: 4568G>A

PubMed Link: 37175987

Variant Present in the following documents:

• Main text
• ijms-24-08278.pdf

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SCN10A: C1523Y; rs142217269

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: SCN10A: 4568G>A; Cys1523Tyr

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine

Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH

Publication Date: 2020-08

Variant appearance in text: SCN10A: 4568G>A; C1523Y

PubMed Link: 32449611

Variant Present in the following documents:

• MGG3-8-e1309-s002.xlsx, sheet 1
• MGG3-8-e1309-s002.xlsx, sheet 2

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SCN10A: 4568G>A; Cys1523Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: SCN10A: C1523Y; rs142217269

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

---

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: rs142217269

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Clinical Genetics

Abou Ziki, M D MD; Seidelmann, S B SB; Smith, E E; Atteya, G G; Jiang, Y Y; Fernandes, R G RG; Marieb, M A MA; Akar, J G JG; Mani, A A

Publication Date: 2018-04

Variant appearance in text: SCN10A: C1523Y; rs142217269

PubMed Link: 28407228

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.

Case Reports In Neurological Medicine

Cannon, Ashley A; Kurklinsky, Svetlana S; Guthrie, Kimberly J KJ; Riegert-Johnson, Douglas L DL

Publication Date: 2016

Variant appearance in text: Nav1.8: 4568G>A

PubMed Link: 27525141

Variant Present in the following documents:

• CRINM2016-9212369.pdf

View BVdb publication page

---

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: SCN10A: 4568G>A; C1523Y; rs142217269

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SCN10A: C1523Y

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: SCN10A: C1523Y

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

Journal Of Cardiovascular Translational Research

Te Riele, Anneline S J M AS; James, Cynthia A CA; Murray, Brittney B; Tichnell, Crystal C; Amat-Alarcon, Nuria N; Burks, Kathleen K; Tandri, Harikrishna H; Calkins, Hugh H; Polydefkis, Michael M; Judge, Daniel P DP

Publication Date: 2016-02

Variant appearance in text: SCN10A: 4568G>A; C1523Y

PubMed Link: 26733327

Variant Present in the following documents:

• Main text

View BVdb publication page

---

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: SCN10A: C1523Y; rs142217269

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

---

Common and rare variants in SCN10A modulate the risk of atrial fibrillation.

Circulation. Cardiovascular Genetics

Jabbari, Javad J; Olesen, Morten S MS; Yuan, Lei L; Nielsen, Jonas B JB; Liang, Bo B; Macri, Vincenzo V; Christophersen, Ingrid E IE; Nielsen, Nikolaj N; Sajadieh, Ahmad A; Ellinor, Patrick T PT; Grunnet, Morten M; Haunsø, Stig S; Holst, Anders G AG; Svendsen, Jesper H JH; Jespersen, Thomas T

Publication Date: 2015-02

Variant appearance in text: SCN10A: C1523Y; rs142217269

PubMed Link: 25691686

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Cardiovascular Research

Behr, Elijah R ER; Savio-Galimberti, Eleonora E; Barc, Julien J; Holst, Anders G AG; Petropoulou, Evmorfia E; Prins, Bram P BP; Jabbari, Javad J; Torchio, Margherita M; Berthet, Myriam M; Mizusawa, Yuka Y; Yang, Tao T; Nannenberg, Eline A EA; Dagradi, Federica F; Weeke, Peter P; Bastiaenan, Rachel R; Ackerman, Michael J MJ; Haunso, Stig S; Leenhardt, Antoine A; Kääb, Stefan S; Probst, Vincent V; Redon, Richard R; Sharma, Sanjay S; Wilde, Arthur A; Tfelt-Hansen, Jacob J; Schwartz, Peter P; Roden, Dan M DM; Bezzina, Connie R CR; Olesen, Morten M; Darbar, Dawood D; Guicheney, Pascale P; Crotti, Lia L; , ; Jamshidi, Yalda Y

Publication Date: 2015-06-01

Variant appearance in text: rs142217269

PubMed Link: 25691538

Variant Present in the following documents:

• Main text

View BVdb publication page

---

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.

Cardiovascular Research

Savio-Galimberti, Eleonora E; Weeke, Peter P; Muhammad, Raafia R; Blair, Marcia M; Ansari, Sami S; Short, Laura L; Atack, Thomas C TC; Kor, Kaylen K; Vanoye, Carlos G CG; Olesen, Morten Salling MS; LuCamp, ; Yang, Tao T; George, Alfred L AL; Roden, Dan M DM; Darbar, Dawood D

Publication Date: 2014-11-01

Variant appearance in text: SCN10A: C1523Y

PubMed Link: 25053638

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Gain-of-function Nav1.8 mutations in painful neuropathy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Faber, Catharina G CG; Lauria, Giuseppe G; Merkies, Ingemar S J IS; Cheng, Xiaoyang X; Han, Chongyang C; Ahn, Hye-Sook HS; Persson, Anna-Karin AK; Hoeijmakers, Janneke G J JG; Gerrits, Monique M MM; Pierro, Tiziana T; Lombardi, Raffaella R; Kapetis, Dimos D; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG

Publication Date: 2012-11-20

Variant appearance in text: SCN10A: 4568G>A

PubMed Link: 23115331

Variant Present in the following documents:

• Main text

View BVdb publication page

---