Publications:

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Missense polymorphisms potentially involved in mandibular prognathism.

Journal Of Oral Biology And Craniofacial Research

Kalmari, Amin A; Hosseinzadeh Colagar, Abasalt A; Heydari, Mohammadkazem M; Arash, Valiollah V

Publication Date: 2023

Variant appearance in text: rs422951

PubMed Link: 37228872

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: NOTCH4: T320A

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Innate and adaptive immune abnormalities underlying autoimmune diseases: the genetic connections.

Science China. Life Sciences

Chi, Xinxin X; Huang, Miaozhen M; Tu, Hailin H; Zhang, Bin B; Lin, Xin X; Xu, Huji H; Dong, Chen C; Hu, Xiaoyu X

Publication Date: 2023-02-03

Variant appearance in text: rs422951

PubMed Link: 36738430

Variant Present in the following documents:

• 11427_2021_Article_2187.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs422951

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Heterogeneity of immune control in chronic hepatitis B virus infection: Clinical implications on immunity with interferon-α treatment and retreatment.

World Journal Of Gastroenterology

Yin, Guo-Qing GQ; Chen, Ke-Ping KP; Gu, Xiao-Chun XC

Publication Date: 2022-10-28

Variant appearance in text: rs422951

PubMed Link: 36353205

Variant Present in the following documents:

• WJG-28-5784.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: NOTCH4: T320A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: NOTCH4: T320A

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Conventional and genetic risk factors for chronic Hepatitis B virus infection in a community-based study of 0.5 million Chinese adults.

Scientific Reports

Hamilton, Elizabeth E; Yang, Ling L; Mentzer, Alexander J AJ; Guo, Yu Y; Chen, Yiping Y; Lv, Jun J; Fletcher, Robert R; Wright, Neil N; Lin, Kuang K; Walters, Robin R; Kartsonaki, Christiana C; Yang, Yingcai Y; Burgess, Sushila S; Sansome, Sam S; Li, Liming L; Millwood, Iona Y IY; Chen, Zhengming Z

Publication Date: 2022-07-15

Variant appearance in text: rs422951

PubMed Link: 35840665

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOTCH3 rs1043996 Polymorphism Is Associated with the Occurrence of Alcoholic Liver Cirrhosis Independently of PNPLA3 and TM6SF2 Polymorphisms.

Journal Of Clinical Medicine

Bainrauch, Ana A; Šisl, Dino D; Markotić, Antonio A; Ostojić, Ana A; Gašparov, Slavko S; Bralić Lang, Valerija V; Kovačić, Nataša N; Grčević, Danka D; Mrzljak, Anna A; Kelava, Tomislav T

Publication Date: 2021-10-08

Variant appearance in text: rs422951

PubMed Link: 34640639

Variant Present in the following documents:

• Main text
• jcm-10-04621.pdf

View BVdb publication page

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Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism.

Head & Face Medicine

Han, Xianzhuo X; Xiong, Xueyan X; Shi, Xiujuan X; Chen, Fengshan F; Li, Yongming Y

Publication Date: 2021-05-26

Variant appearance in text: rs422951

PubMed Link: 34039391

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: NOTCH4: 958A>G; T320A; rs422951

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 24
• CTM2-11-e285-s003.xlsx, sheet 13

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: NOTCH4: 958A>G; T320A; rs422951

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs422951

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zhang, Min M; Wang, Xiaoyan X; Jiang, Xiaodong X; Yang, Xiangling X; Wen, Chuangyu C; Zhi, Min M; Gao, Xiang X; Hu, Pinjin P; Liu, Huanliang H

Publication Date: 2019-12-17

Variant appearance in text: rs422951

PubMed Link: 31844038

Variant Present in the following documents:

• Main text
• medscimonit-25-9637.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Host Genetic Determinants of Hepatitis B Virus Infection.

Frontiers In Genetics

Zhang, Zhenhua Z; Wang, Changtai C; Liu, Zhongping Z; Zou, Guizhou G; Li, Jun J; Lu, Mengji M

Publication Date: 2019

Variant appearance in text: rs422951

PubMed Link: 31475028

Variant Present in the following documents:

• Main text
• fgene-10-00696.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs422951

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Host genetic factors affecting hepatitis B infection outcomes: Insights from genome-wide association studies.

World Journal Of Gastroenterology

Akcay, Izzet Mehmet IM; Katrinli, Seyma S; Ozdil, Kamil K; Doganay, Gizem Dinler GD; Doganay, Levent L

Publication Date: 2018-08-14

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 30122875

Variant Present in the following documents:

• Main text
• WJG-24-3347.pdf

View BVdb publication page

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Host genetic factors in predicting response status in chronic hepatitis B patients discontinuing nucleos(t)ide analogs.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association

Li, Tao T; Liu, Feng F; Zhang, Lixin L; Ye, Qian Q; Fan, Xiaoping X; Xue, Yan Y; Wang, Lei L

Publication Date: 2018

Variant appearance in text: rs422951

PubMed Link: 29451182

Variant Present in the following documents:

• Main text
• SJG-24-30.pdf

View BVdb publication page

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Clinical significance of detecting CSF-derived tumor cells in breast cancer patients with leptomeningeal metastasis.

Oncotarget

Li, Xuelu X; Zhang, Yuan Y; Ding, Jinlei J; Wang, Min M; Li, Na N; Yang, Hui H; Wang, Kainan K; Wang, Dandan D; Lin, Peter Ping PP; Li, Man M; Zhao, Zuowei Z; Liu, Pixu P

Publication Date: 2018-01-05

Variant appearance in text: NOTCH4: 958A>G; T320A

PubMed Link: 29416803

Variant Present in the following documents:

• oncotarget-09-2705-s002.xlsx, sheet 1

View BVdb publication page

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Spatial Tissue Proteomics Quantifies Inter- and Intratumor Heterogeneity in Hepatocellular Carcinoma (HCC).

Molecular & Cellular Proteomics : Mcp

Buczak, Katarzyna K; Ori, Alessandro A; Kirkpatrick, Joanna M JM; Holzer, Kerstin K; Dauch, Daniel D; Roessler, Stephanie S; Endris, Volker V; Lasitschka, Felix F; Parca, Luca L; Schmidt, Alexander A; Zender, Lars L; Schirmacher, Peter P; Krijgsveld, Jeroen J; Singer, Stephan S; Beck, Martin M

Publication Date: 2018-04

Variant appearance in text: NOTCH4: Thr320Ala; rs422951

PubMed Link: 29363612

Variant Present in the following documents:

• supp_RA117.000189_4790_2_supp_58832_p2t92h.xlsx, sheet 1

View BVdb publication page

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Advances in the genome-wide association study of chronic hepatitis B susceptibility in Asian population.

European Journal Of Medical Research

Qiu, Bing B; Jiang, Wei W; Olyaee, Mojtaba M; Shimura, Kenji K; Miyakawa, Akihiro A; Hu, Huijing H; Zhu, Yongcui Y; Tang, Lixin L

Publication Date: 2017-12-28

Variant appearance in text: rs422951

PubMed Link: 29282121

Variant Present in the following documents:

• Main text
• 40001_2017_Article_288.pdf

View BVdb publication page

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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: NOTCH4: T320A; rs422951

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.

Nature Communications

Tian, Chao C; Hromatka, Bethann S BS; Kiefer, Amy K AK; Eriksson, Nicholas N; Noble, Suzanne M SM; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2017-09-19

Variant appearance in text: rs422951

PubMed Link: 28928442

Variant Present in the following documents:

• 41467_2017_257_MOESM1_ESM.pdf

View BVdb publication page

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Prognostic value of Notch receptors in postsurgical patients with hepatitis B virus-related hepatocellular carcinoma.

Cancer Medicine

Yu, Tingdong T; Han, Chuangye C; Zhu, Guangzhi G; Liao, Xiwen X; Qin, Wei W; Yang, Chengkun C; Liu, Zhen Z; Su, Hao H; Liu, Xiaoguang X; Yu, Long L; Liu, Zhengtao Z; Lu, Sicong S; Chen, Zhiwei Z; Liang, Yu Y; Huang, Jianlu J; Qin, Xue X; Gui, Ying Y; Li, Jiaquan J; Peng, Tao T

Publication Date: 2017-07

Variant appearance in text: rs422951

PubMed Link: 28568708

Variant Present in the following documents:

• Main text

View BVdb publication page

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The MHC locus and genetic susceptibility to autoimmune and infectious diseases.

Genome Biology

Matzaraki, Vasiliki V; Kumar, Vinod V; Wijmenga, Cisca C; Zhernakova, Alexandra A

Publication Date: 2017-04-27

Variant appearance in text: rs422951

PubMed Link: 28449694

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1207.pdf

View BVdb publication page

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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine

Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN

Publication Date: 2016-12-13

Variant appearance in text: rs422951

PubMed Link: 27964746

Variant Present in the following documents:

• 13073_2016_383_MOESM1_ESM.pdf

View BVdb publication page

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs422951

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-9.pdf

View BVdb publication page

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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies

Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD

Publication Date: 2016-01

Variant appearance in text: NOTCH4: T320A

PubMed Link: 27148581

Variant Present in the following documents:

• supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1

View BVdb publication page

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 26670335

Variant Present in the following documents:

• pone.0144528.s006.xlsx, sheet 1
• pone.0144528.s005.xlsx, sheet 1

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: rs422951

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: NOTCH4: T320A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: NOTCH4: 958A>G; T320A

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Ongoing developments in sporadic inclusion body myositis.

Current Rheumatology Reports

Machado, Pedro M PM; Ahmed, Mhoriam M; Brady, Stefen S; Gang, Qiang Q; Healy, Estelle E; Morrow, Jasper M JM; Wallace, Amanda C AC; Dewar, Liz L; Ramdharry, Gita G; Parton, Matthew M; Holton, Janice L JL; Houlden, Henry H; Greensmith, Linda L; Hanna, Michael G MG

Publication Date: 2014-12

Variant appearance in text: rs422951

PubMed Link: 25399751

Variant Present in the following documents:

• Main text
• 11926_2014_Article_477.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: NOTCH4: T320A

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25

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Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.

Orphanet Journal Of Rare Diseases

Gang, Qiang Q; Bettencourt, Conceição C; Machado, Pedro P; Hanna, Michael G MG; Houlden, Henry H

Publication Date: 2014-06-19

Variant appearance in text: rs422951

PubMed Link: 24948216

Variant Present in the following documents:

• Main text
• 1750-1172-9-88.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs422951

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Genetic variants in the NOTCH4 gene influence the clinical features of migraine.

The Journal Of Headache And Pain

Rubino, Elisa E; Fenoglio, Pierpaola P; Gallone, Salvatore S; Govone, Flora F; Vacca, Alessandro A; De Martino, Paola P; Giobbe, Maria Laura ML; Boschi, Silvia S; Pinessi, Lorenzo L; Gentile, Salvatore S; Rainero, Innocenzo I

Publication Date: 2013-03-26

Variant appearance in text: NOTCH4: T320A; rs422951

PubMed Link: 23566281

Variant Present in the following documents:

• 1129-2377-14-28.pdf

View BVdb publication page

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