Publications:

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature Communications

Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF

Publication Date: 2022-07-26

Variant appearance in text: SCN1A: 5555T>C; Met1852Thr

PubMed Link: 35882841

Variant Present in the following documents:

• 41467_2022_31446_MOESM7_ESM.xlsx, sheet 4
• 41467_2022_31446_MOESM1_ESM.pdf

View BVdb publication page

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: M1852T

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience

Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M

Publication Date: 2019

Variant appearance in text: SCN1A: 5555T>C; M1852T; rs121918783

PubMed Link: 31780880

Variant Present in the following documents:

• Main text
• fnins-13-01135.pdf

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: 5555T>C; Met1852Thr

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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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: M1852T

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: M1852T; rs121918783

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: M1852T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Human Mutation

Xu, Xiaojing X; Yang, Xiaoxu X; Wu, Qixi Q; Liu, Aijie A; Yang, Xiaoling X; Ye, Adam Yongxin AY; Huang, August Yue AY; Li, Jiarui J; Wang, Meng M; Yu, Zhe Z; Wang, Sheng S; Zhang, Zhichao Z; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2015-09

Variant appearance in text: SCN1A: 5555T>C; M1852T

PubMed Link: 26096185

Variant Present in the following documents:

• Main text
• HUMU-36-861.pdf

View BVdb publication page

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Solution structure of the NaV1.2 C-terminal EF-hand domain.

The Journal Of Biological Chemistry

Miloushev, Vesselin Z VZ; Levine, Joshua A JA; Arbing, Mark A MA; Hunt, John F JF; Pitt, Geoffrey S GS; Palmer, Arthur G AG

Publication Date: 2009-03-06

Variant appearance in text: Nav1.1: M1852T

PubMed Link: 19129176

Variant Present in the following documents:

• Main text

View BVdb publication page

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Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Rusconi, Raffaella R; Scalmani, Paolo P; Cassulini, Rita Restano RR; Giunti, Giulia G; Gambardella, Antonio A; Franceschetti, Silvana S; Annesi, Grazia G; Wanke, Enzo E; Mantegazza, Massimo M

Publication Date: 2007-10-10

Variant appearance in text: SMEI: M1852T

PubMed Link: 17928445

Variant Present in the following documents:

• Main text

View BVdb publication page

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