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: SCN4B: 298C>T

PubMed Link: 37175987

Variant Present in the following documents:

• Main text
• ijms-24-08278.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: SCN4B: R100C; rs149497652

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SCN4B: R100C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: rs149497652

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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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: SCN4B: R100C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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