Publications:

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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: ENG: D366H

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: ENG: D366H; rs1800956

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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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: ENG: D366H; rs1800956

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.

Journal Of The American Heart Association

Shinya, Yoshiki Y; Hiraide, Takahiro T; Momoi, Mizuki M; Goto, Shinichi S; Suzuki, Hisato H; Katsumata, Yoshinori Y; Kurebayashi, Yutaka Y; Endo, Jin J; Sano, Motoaki M; Fukuda, Keiichi K; Kosaki, Kenjiro K; Kataoka, Masaharu M

Publication Date: 2021-02

Variant appearance in text: rs1800956

PubMed Link: 33586470

Variant Present in the following documents:

• Main text
• JAH3-10-e019245.pdf

View BVdb publication page

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Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.

Journal Of The American Heart Association

Yaoita, Nobuhiro N; Satoh, Kimio K; Satoh, Taijyu T; Shimizu, Toru T; Saito, Sakae S; Sugimura, Koichiro K; Tatebe, Shunsuke S; Yamamoto, Saori S; Aoki, Tatsuo T; Kikuchi, Nobuhiro N; Kurosawa, Ryo R; Miyata, Satoshi S; Nagasaki, Masao M; Yasuda, Jun J; Shimokawa, Hiroaki H

Publication Date: 2020-11-03

Variant appearance in text: ENG: 1096G>C

PubMed Link: 33103541

Variant Present in the following documents:

• Main text
• JAH3-9-e015902.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ENG: D366H; rs1800956

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Role of activin receptor-like kinase 1 in vascular development and cerebrovascular diseases.

Neural Regeneration Research

Hong, Jun-Mou JM; Hu, Yi-Da YD; Chai, Xiao-Qing XQ; Tang, Chao-Liang CL

Publication Date: 2020-10

Variant appearance in text: rs1800956

PubMed Link: 32246621

Variant Present in the following documents:

• Main text
• NRR-15-1807.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: ENG: 1096G>C; D366H; rs1800956

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ENG: 1096G>C; D366H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ENG: D366H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 9
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 53
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 54

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ENG: 1096G>C; Asp366His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ENG: 1096G>C; Asp366His; rs1800956

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: ENG: 1096G>C; D366H; rs1800956

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: ENG: 1096G>C; Asp366His

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1800956

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: ENG: 1096G>C; Asp366His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: ENG: D366H

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension.

Plos One

Xi, Qunying Q; Liu, Zhihong Z; Zhao, Zhihui Z; Luo, Qin Q; Huang, Zhiwei Z

Publication Date: 2016

Variant appearance in text: rs1800956

PubMed Link: 26820968

Variant Present in the following documents:

• Main text

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: HHT1: D366H; rs1800956

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility: A Meta-Analysis.

Medicine

Hu, Xin X; Fang, Yuan Y; Li, Yun-Ke YK; Liu, Wen-Ke WK; Li, Hao H; Ma, Lu L; You, Chao C

Publication Date: 2015-11

Variant appearance in text: rs1800956

PubMed Link: 26559253

Variant Present in the following documents:

• Main text
• medi-94-e1847.pdf

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: ENG: D366H

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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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ENG: D366H; rs1800956

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Stroke

Santiago-Sim, Teresa T; Mathew-Joseph, Sumy S; Pannu, Hariyadarshi H; Milewicz, Dianna M DM; Seidman, Christine E CE; Seidman, J G JG; Kim, Dong H DH

Publication Date: 2009-05

Variant appearance in text: rs1800956

PubMed Link: 19299629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics

Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M

Publication Date: 2006-09

Variant appearance in text: ENG: D366H

PubMed Link: 16690726

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Human Genomics

Savas, Sevtap S; Schmidt, Steffen S; Jarjanazi, Hamdi H; Ozcelik, Hilmi H

Publication Date: 2006-03

Variant appearance in text: ENG: D366H; rs1800956

PubMed Link: 16595073

Variant Present in the following documents:

• Main text
• 1479-7364-2-5-287.pdf

View BVdb publication page

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

View BVdb publication page

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