Publications:

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: SCN1A: T1250M

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: rs140731963

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SCN1A: T1250M

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: SCN1A: T1250M; rs140731963

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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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: SCN1A: 3749C>T; Thr1250Met

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: SCN1A: T1250M; rs140731963

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 3749C>T; Thr1250Met

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

Neurology

Cetica, Valentina V; Chiari, Sara S; Mei, Davide D; Parrini, Elena E; Grisotto, Laura L; Marini, Carla C; Pucatti, Daniela D; Ferrari, Annarita A; Sicca, Federico F; Specchio, Nicola N; Trivisano, Marina M; Battaglia, Domenica D; Contaldo, Ilaria I; Zamponi, Nelia N; Petrelli, Cristina C; Granata, Tiziana T; Ragona, Francesca F; Avanzini, Giuliano G; Guerrini, Renzo R

Publication Date: 2017-03-14

Variant appearance in text: SCN1A: Thr1250Met

PubMed Link: 28202706

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: T1250M

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SCN1A: 3749C>T; T1250M; rs140731963

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Audit of use of stiripentol in adults with Dravet syndrome.

Acta Neurologica Scandinavica

Balestrini, S S; Sisodiya, S M SM

Publication Date: 2017-01

Variant appearance in text: SCN1A: 3749C>T

PubMed Link: 27231140

Variant Present in the following documents:

• Main text
• ANE-135-73.pdf

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: SCN1A: T1250M

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s005.xlsx, sheet 1

View BVdb publication page

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

Plos One

Lal, Dennis D; Reinthaler, Eva M EM; Dejanovic, Borislav B; May, Patrick P; Thiele, Holger H; Lehesjoki, Anna-Elina AE; Schwarz, Günter G; Riesch, Erik E; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Steinböck, Hannelore H; Gruber-Sedlmayr, Ursula U; Neophytou, Birgit B; Zara, Federico F; Hahn, Andreas A; , ; , ; Gormley, Padhraig P; Becker, Felicitas F; Weber, Yvonne G YG; Cilio, Maria Roberta MR; Kunz, Wolfram S WS; Krause, Roland R; Zimprich, Fritz F; Lemke, Johannes R JR; Nürnberg, Peter P; Sander, Thomas T; Lerche, Holger H; Neubauer, Bernd A BA

Publication Date: 2016

Variant appearance in text: SCN1A: T1250M; rs140731963

PubMed Link: 26990884

Variant Present in the following documents:

• Main text
• pone.0150426.pdf

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs140731963

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Brain : A Journal Of Neurology

Catarino, Claudia B CB; Liu, Joan Y W JY; Liagkouras, Ioannis I; Gibbons, Vaneesha S VS; Labrum, Robyn W RW; Ellis, Rachael R; Woodward, Cathy C; Davis, Mary B MB; Smith, Shelagh J SJ; Cross, J Helen JH; Appleton, Richard E RE; Yendle, Simone C SC; McMahon, Jacinta M JM; Bellows, Susannah T ST; Jacques, Thomas S TS; Zuberi, Sameer M SM; Koepp, Matthias J MJ; Martinian, Lillian L; Scheffer, Ingrid E IE; Thom, Maria M; Sisodiya, Sanjay M SM

Publication Date: 2011-10

Variant appearance in text: SCN1A: 3749C>T

PubMed Link: 21719429

Variant Present in the following documents:

• Main text
• awr129.pdf

View BVdb publication page

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