Publications:

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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: PRRT2: R145Q; rs200877676

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology

Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T

Publication Date: 2022-07-14

Variant appearance in text: PRRT2: R145Q

PubMed Link: 35836176

Variant Present in the following documents:

• 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3

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Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances

Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J

Publication Date: 2020-02

Variant appearance in text: PRRT2: R145Q

PubMed Link: 32133402

Variant Present in the following documents:

• aay4211_Table_S2.xlsx, sheet 1

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: PRRT2: 434G>A; Arg145Gln

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: PRRT2: 434G>A; Arg145Gln; rs200877676

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

Frontiers In Physiology

Marques, Mayra de A MA; de Oliveira, Guilherme A P GA

Publication Date: 2016

Variant appearance in text: PKC: R145Q

PubMed Link: 27721798

Variant Present in the following documents:

• Main text
• fphys-07-00429.pdf

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Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.

The Journal Of Biological Chemistry

Dvornikov, Alexey V AV; Smolin, Nikolai N; Zhang, Mengjie M; Martin, Jody L JL; Robia, Seth L SL; de Tombe, Pieter P PP

Publication Date: 2016-10-07

Variant appearance in text: PKC: R145Q

PubMed Link: 27557662

Variant Present in the following documents:

• Main text

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Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

Archives Of Biochemistry And Biophysics

Cheng, Yuanhua Y; Regnier, Michael M

Publication Date: 2016-07-01

Variant appearance in text: PKC: R145Q

PubMed Link: 26851561

Variant Present in the following documents:

• Main text

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TNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein structure-function relationships.

Gene

Sheng, Juan-Juan JJ; Jin, Jian-Ping JP

Publication Date: 2016-01-15

Variant appearance in text: PKC: R145Q

PubMed Link: 26526134

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited cardiomyopathies caused by troponin mutations.

Journal Of Geriatric Cardiology : Jgc

Lu, Qun-Wei QW; Wu, Xiao-Yan XY; Morimoto, Sachio S

Publication Date: 2013-03

Variant appearance in text: PKC: R145Q

PubMed Link: 23610579

Variant Present in the following documents:

• Main text
• jgc-10-01-091.pdf

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Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry

Wang, Yingcai Y; Pinto, Jose Renato JR; Solis, Raquel Sancho RS; Dweck, David D; Liang, Jingsheng J; Diaz-Perez, Zoraida Z; Ge, Ying Y; Walker, Jeffery W JW; Potter, James D JD

Publication Date: 2012-01-13

Variant appearance in text: PKC: R145Q

PubMed Link: 22086914

Variant Present in the following documents:

• Main text

View BVdb publication page

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