Publications:

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Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Jama Network Open

Huang, Zhongwen Z; Xiao, Feifan F; Xiao, Hui H; Lu, Yulan Y; Yang, Lin L; Zhuang, Deyi D; Chen, Liping L; Wei, Qiufen Q; Jiang, Yinmo Y; Li, Gang G; Wu, Bingbing B; Liu, Zhiwei Z; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2023-04-03

Variant appearance in text: KCNQ2: 620G>A; R207Q

PubMed Link: 37014641

Variant Present in the following documents:

• jamanetwopen-e236537-s001.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNQ2: 620G>A; Arg207Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: KCNQ2: R207Q; rs118192200

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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KCNQ2 Encephalopathy and Effect of Early Treatment on the Clinical Phenotype.

Annals Of Indian Academy Of Neurology

Kamate, Mahesh M; Reddy, Anuraag N AN; Detroja, Mayank M

Publication Date: 2022

Variant appearance in text: KCNQ2: Arg207Gln

PubMed Link: 35693682

Variant Present in the following documents:

• AIAN-25-289.pdf

View BVdb publication page

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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.

Jci Insight

Vanoye, Carlos G CG; Desai, Reshma R RR; Ji, Zhigang Z; Adusumilli, Sneha S; Jairam, Nirvani N; Ghabra, Nora N; Joshi, Nishtha N; Fitch, Eryn E; Helbig, Katherine L KL; McKnight, Dianalee D; Lindy, Amanda S AS; Zou, Fanggeng F; Helbig, Ingo I; Cooper, Edward C EC; George, Alfred L AL

Publication Date: 2022-03-08

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 35104249

Variant Present in the following documents:

• jciinsight-7-156314-s077.xlsx, sheet 1
• jciinsight-7-156314-s080.xlsx, sheet 2
• jciinsight-7-156314-s075.pdf
• jciinsight-7-156314-s080.xlsx, sheet 3
• jciinsight-7-156314-s079.xlsx, sheet 2
• jciinsight-7-156314-s078.xlsx, sheet 1
• jciinsight-7-156314-s077.xlsx, sheet 2
• jciinsight-7-156314-s078.xlsx, sheet 3
• jciinsight-7-156314-s080.xlsx, sheet 1
• jciinsight-7-156314-s078.xlsx, sheet 2
• jciinsight-7-156314-s076.xlsx, sheet 1
• jciinsight-7-156314-s079.xlsx, sheet 1
• jciinsight-7-156314-s077.xlsx, sheet 3

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: KCNQ2: 620G>A; Arg207Gln

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.

Bmc Pediatrics

Xu, Yan Y; Dou, Ya-Lan YL; Chen, Xiang X; Dong, Xin-Ran XR; Wang, Xin-Hua XH; Wu, Bing-Bing BB; Cheng, Guo-Qiang GQ; Zhou, Yuan-Feng YF

Publication Date: 2021-10-28

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 34711204

Variant Present in the following documents:

• Main text
• 12887_2021_Article_2946.pdf

View BVdb publication page

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Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.

Journal Of Chemical Information And Modeling

Alberini, Giulio G; Benfenati, Fabio F; Maragliano, Luca L

Publication Date: 2021-03-22

Variant appearance in text: Kv7.2: R207Q

PubMed Link: 33570938

Variant Present in the following documents:

• Main text
• ci0c01407_si_001.pdf
• ci0c01407.pdf

View BVdb publication page

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Molecular basis for ligand activation of the human KCNQ2 channel.

Cell Research

Li, Xiaoxiao X; Zhang, Qiansen Q; Guo, Peipei P; Fu, Jie J; Mei, Lianghe L; Lv, Dashuai D; Wang, Jiangqin J; Lai, Dongwu D; Ye, Sheng S; Yang, Huaiyu H; Guo, Jiangtao J

Publication Date: 2021-01

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 32884139

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KCNQ2: R207Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Scientific Reports

Zhang, Jiaren J; Kim, Eung Chang EC; Chen, Congcong C; Procko, Erik E; Pant, Shashank S; Lam, Kin K; Patel, Jaimin J; Choi, Rebecca R; Hong, Mary M; Joshi, Dhruv D; Bolton, Eric E; Tajkhorshid, Emad E; Chung, Hee Jung HJ

Publication Date: 2020-03-16

Variant appearance in text: Kv7.2: 620G>A

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

View BVdb publication page

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A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

Scientific Reports

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Mercier, Aurélie A; Burger, Bettina B; Keller, Dagmar I DI; Chahine, Mohamed M

Publication Date: 2018-09-14

Variant appearance in text: Kv7.2: R207Q

PubMed Link: 30218094

Variant Present in the following documents:

• 41598_2018_31772_MOESM1_ESM.pdf

View BVdb publication page

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Improving the characterization of calcium channel gating pore currents with Stac3.

The Journal Of General Physiology

Chahine, Mohamed M

Publication Date: 2018-03-05

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 29467165

Variant Present in the following documents:

• JGP_201711984.pdf

View BVdb publication page

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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications

Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M

Publication Date: 2017-11-06

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 29109393

Variant Present in the following documents:

• 41467_2017_965_MOESM7_ESM.xlsx, sheet 6
• 41467_2017_965_MOESM7_ESM.xlsx, sheet 5
• 41467_2017_965_MOESM7_ESM.xlsx, sheet 1

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: KCNQ2: 620G>A; Arg207Gln

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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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: KCNQ2: 620G>A; Arg207Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNQ2: 620G>A; R207Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Frontiers In Cellular Neuroscience

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Manocchio, Laura L; Medoro, Alessandro A; Taglialatela, Maurizio M

Publication Date: 2015

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 26236192

Variant Present in the following documents:

• Main text

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: KCNQ2: R207Q

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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Biophysics, pathophysiology, and pharmacology of ion channel gating pores.

Frontiers In Pharmacology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M

Publication Date: 2014

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

View BVdb publication page

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The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.

Frontiers In Pharmacology

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Iannotti, Fabio Arturo FA; Barrese, Vincenzo V; Ambrosino, Paolo P; Martire, Maria M; Cilio, Maria Roberta MR; Taglialatela, Maurizio M

Publication Date: 2011

Variant appearance in text: Kv7.2: R207Q

PubMed Link: 21687499

Variant Present in the following documents:

• fphar-02-00002.pdf

View BVdb publication page

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Nervous system KV7 disorders: breakdown of a subthreshold brake.

The Journal Of Physiology

Maljevic, Snezana S; Wuttke, Thomas V TV; Lerche, Holger H

Publication Date: 2008-04-01

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 18238816

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.

The Journal Of Physiology

Wuttke, Thomas V TV; Penzien, Johann J; Fauler, Michael M; Seebohm, Guiscard G; Lehmann-Horn, Frank F; Lerche, Holger H; Jurkat-Rott, Karin K

Publication Date: 2008-01-15

Variant appearance in text: KCNQ2: R207Q

PubMed Link: 18006581

Variant Present in the following documents:

• Main text

View BVdb publication page

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