Publications:

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Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.

Genomics & Informatics

Zavarzadeh, Parisima Ghaffarian PG; Bonyadi, Morteza M; Abedi, Zahra Z

Publication Date: 2022-09

Variant appearance in text: POLH: K535E

PubMed Link: 36239105

Variant Present in the following documents:

• gi-21044.pdf

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: POLH: K535E; rs56307355

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: POLH: 1603A>G; Lys535Glu; rs56307355

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: POLH: 1603A>G; Lys535Glu

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: POLH: K535E; rs56307355

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: POLH: 1603A>G; Lys535Glu; rs56307355

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: POLH: 1603A>G; Lys535Glu

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: POLH: 1603A>G; Lys535Glu

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: POLH: 1603A>G; Lys535Glu; rs56307355

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: POLH: 1603A>G; Lys535Glu; rs56307355

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: POLH: K535E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: POLH: 1603A>G; Lys535Glu

PubMed Link: 30850667

Variant Present in the following documents:

• 41598_2019_40571_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Jama Dermatology

Pugh, Jennifer J; Khan, Sikandar G SG; Tamura, Deborah D; Goldstein, Alisa M AM; Landi, Maria Teresa MT; DiGiovanna, John J JJ; Kraemer, Kenneth H KH

Publication Date: 2019-01-01

Variant appearance in text: POLH: K535E

PubMed Link: 30516811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

International Journal Of Cancer

Girard, Elodie E; Eon-Marchais, Séverine S; Olaso, Robert R; Renault, Anne-Laure AL; Damiola, Francesca F; Dondon, Marie-Gabrielle MG; Barjhoux, Laure L; Goidin, Didier D; Meyer, Vincent V; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Lonjou, Christine C; Coignard, Juliette J; Marcou, Morgane M; Cavaciuti, Eve E; Baulard, Céline C; Bihoreau, Marie-Thérèse MT; Cohen-Haguenauer, Odile O; Leroux, Dominique D; Penet, Clotilde C; Fert-Ferrer, Sandra S; Colas, Chrystelle C; Frebourg, Thierry T; Eisinger, François F; Adenis, Claude C; Fajac, Anne A; Gladieff, Laurence L; Tinat, Julie J; Floquet, Anne A; Chiesa, Jean J; Giraud, Sophie S; Mortemousque, Isabelle I; Soubrier, Florent F; Audebert-Bellanger, Séverine S; Limacher, Jean-Marc JM; Lasset, Christine C; Lejeune-Dumoulin, Sophie S; Dreyfus, Hélène H; Bignon, Yves-Jean YJ; Longy, Michel M; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bonadona, Valérie V; Berthet, Pascaline P; Luporsi, Elisabeth E; Maugard, Christine M CM; Noguès, Catherine C; Delnatte, Capucine C; Fricker, Jean-Pierre JP; Gesta, Paul P; Faivre, Laurence L; Lortholary, Alain A; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Servant, Nicolas N; Boland, Anne A; Mazoyer, Sylvie S; Deleuze, Jean-François JF; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2019-04-15

Variant appearance in text: POLH: 1603A>G; K535E; rs56307355

PubMed Link: 30303537

Variant Present in the following documents:

View BVdb publication page

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SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Bmc Cancer

Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y

Publication Date: 2018-04-27

Variant appearance in text: POLH: K535E

PubMed Link: 29703253

Variant Present in the following documents:

• 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: POLH: K535E; rs56307355

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

View BVdb publication page

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High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: rs56307355

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

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: rs56307355

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: POLH: K535E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Nature Communications

Cheng, Ching-Yu CY; Yamashiro, Kenji K; Chen, Li Jia LJ; Ahn, Jeeyun J; Huang, Lulin L; Huang, Lvzhen L; Cheung, Chui Ming G CM; Miyake, Masahiro M; Cackett, Peter D PD; Yeo, Ian Y IY; Laude, Augustinus A; Mathur, Ranjana R; Pang, Junxiong J; Sim, Kar Seng KS; Koh, Adrian H AH; Chen, Peng P; Lee, Shu Yen SY; Wong, Doric D; Chan, Choi Mun CM; Loh, Boon Kwang BK; Sun, Yaoyao Y; Davila, Sonia S; Nakata, Isao I; Nakanishi, Hideo H; Akagi-Kurashige, Yumiko Y; Gotoh, Norimoto N; Tsujikawa, Akitaka A; Matsuda, Fumihiko F; Mori, Keisuke K; Yoneya, Shin S; Sakurada, Yoichi Y; Iijima, Hiroyuki H; Iida, Tomohiro T; Honda, Shigeru S; Lai, Timothy Yuk Yau TY; Tam, Pancy Oi Sin PO; Chen, Haoyu H; Tang, Shibo S; Ding, Xiaoyan X; Wen, Feng F; Lu, Fang F; Zhang, Xiongze X; Shi, Yi Y; Zhao, Peiquan P; Zhao, Bowen B; Sang, Jinghong J; Gong, Bo B; Dorajoo, Rajkumar R; Yuan, Jian-Min JM; Koh, Woon-Puay WP; van Dam, Rob M RM; Friedlander, Yechiel Y; Lin, Ying Y; Hibberd, Martin L ML; Foo, Jia Nee JN; Wang, Ningli N; Wong, Chang Hua CH; Tan, Gavin S GS; Park, Sang Jun SJ; Bhargava, Mayuri M; Gopal, Lingam L; Naing, Thet T; Liao, Jiemin J; Ong, Peng Guan PG; Mitchell, Paul P; Zhou, Peng P; Xie, Xuefeng X; Liang, Jinlong J; Mei, Junpu J; Jin, Xin X; Saw, Seang-Mei SM; Ozaki, Mineo M; Mizoguchi, Takanori T; Kurimoto, Yasuo Y; Woo, Se Joon SJ; Chung, Hum H; Yu, Hyeong-Gon HG; Shin, Joo Young JY; Park, Dong Ho DH; Kim, In Taek IT; Chang, Woohyok W; Sagong, Min M; Lee, Sang-Joon SJ; Kim, Hyun Woong HW; Lee, Ji Eun JE; Li, Yi Y; Liu, Jianjun J; Teo, Yik Ying YY; Heng, Chew Kiat CK; Lim, Tock Han TH; Yang, Suk-Kyun SK; Song, Kyuyoung K; Vithana, Eranga N EN; Aung, Tin T; Bei, Jin Xin JX; Zeng, Yi Xin YX; Tai, E Shyong ES; Li, Xiao Xin XX; Yang, Zhenglin Z; Park, Kyu-Hyung KH; Pang, Chi Pui CP; Yoshimura, Nagahisa N; Wong, Tien Yin TY; Khor, Chiea Chuen CC

Publication Date: 2015-01-28

Variant appearance in text: rs56307355

PubMed Link: 25629512

Variant Present in the following documents:

• ncomms7063-s1.pdf

View BVdb publication page

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