Publications:

---

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: CFTR: V520I; rs77646904

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: CFTR: V520I; rs77646904

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 13

View BVdb publication page

---

β-adrenergic sweat test in children with inconclusive cystic fibrosis diagnosis: Do we need new reference ranges?

Pediatric Pulmonology

Zampoli, Marco M; Verstraete, Janine J; Nguyen-Khoa, Thao T; Sermet-Gaudelus, Isabelle I; Zar, Heather J HJ; Gonska, Tanja T; Morrow, Brenda M BM

Publication Date: 2022-10-03

Variant appearance in text: CFTR: Val520Ile

PubMed Link: 36193559

Variant Present in the following documents:

• Main text
• PPUL-58-187.pdf

View BVdb publication page

---

Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: CFTR: V520I

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1558G>A; V520I; rs77646904

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: CFTR: 1558G>A; V520I

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs77646904

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs77646904

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs77646904

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs77646904

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

---

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs77646904

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: V520I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CFTR: 1558G>A; V520I

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7

View BVdb publication page

---

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

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

Westemeyer, Maggie M; Saucier, Jennifer J; Wallace, Jody J; Prins, Sarah A SA; Shetty, Aparna A; Malhotra, Meenakshi M; Demko, Zachary P ZP; Eng, Christine M CM; Weckstein, Louis L; Boostanfar, Robert R; Rabinowitz, Matthew M; Benn, Peter P; Keen-Kim, Dianne D; Billings, Paul P

Publication Date: 2020-08

Variant appearance in text: CFTR: 1558G>A; V520I

PubMed Link: 32366966

Variant Present in the following documents:

• Main text
• 41436_2020_Article_807.pdf

View BVdb publication page

---

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: CFTR: 1558G>A; Val520Ile; rs77646904

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: CFTR: V520I

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

---

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Journal Of Thoracic Disease

Guan, Wei-Jie WJ; Li, Jia-Cheng JC; Liu, Fang F; Zhou, Jian J; Liu, Ya-Ping YP; Ling, Chao C; Gao, Yong-Hua YH; Li, Hui-Min HM; Yuan, Jing-Jing JJ; Huang, Yan Y; Chen, Chun-Lan CL; Chen, Rong-Chang RC; Zhang, Xue X; Zhong, Nan-Shan NS

Publication Date: 2018-05

Variant appearance in text: CFTR: 1558G>A; V520I; rs77646904

PubMed Link: 29997923

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing.

Nature Communications

Nahar, Rahul R; Zhai, Weiwei W; Zhang, Tong T; Takano, Angela A; Khng, Alexis J AJ; Lee, Yin Yeng YY; Liu, Xingliang X; Lim, Chong Hee CH; Koh, Tina P T TPT; Aung, Zaw Win ZW; Lim, Tony Kiat Hon TKH; Veeravalli, Lavanya L; Yuan, Ju J; Teo, Audrey S M ASM; Chan, Cheryl X CX; Poh, Huay Mei HM; Chua, Ivan M L IML; Liew, Audrey Ann AA; Lau, Dawn Ping Xi DPX; Kwang, Xue Lin XL; Toh, Chee Keong CK; Lim, Wan-Teck WT; Lim, Bing B; Tam, Wai Leong WL; Tan, Eng-Huat EH; Hillmer, Axel M AM; Tan, Daniel S W DSW

Publication Date: 2018-01-15

Variant appearance in text: CFTR: V520I

PubMed Link: 29335443

Variant Present in the following documents:

• 41467_2017_2584_MOESM4_ESM.xlsx, sheet 14
• 41467_2017_2584_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 1558G>A; V520I

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CFTR: 1558G>A; Val520Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: CFTR: 1558G>A; V520I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: rs77646904

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

Human Molecular Genetics

Ni, Bixian B; Lin, Yuan Y; Sun, Liangdan L; Zhu, Meng M; Li, Zheng Z; Wang, Hui H; Yu, Jun J; Guo, Xuejiang X; Zuo, Xianbo X; Dong, Jing J; Xia, Yankai Y; Wen, Yang Y; Wu, Hao H; Li, Honggang H; Zhu, Yong Y; Ping, Ping P; Chen, Xiangfeng X; Dai, Juncheng J; Jiang, Yue Y; Xu, Peng P; Du, Qiang Q; Yao, Bing B; Weng, Ning N; Lu, Hui H; Wang, Zhuqing Z; Zhu, Xiaobin X; Yang, Xiaoyu X; Xiong, Chenliang C; Ma, Hongxia H; Jin, Guangfu G; Xu, Jianfeng J; Wang, Xinru X; Zhou, Zuomin Z; Liu, Jiayin J; Zhang, Xuejun X; Conrad, Donald F DF; Hu, Zhibin Z; Sha, Jiahao J

Publication Date: 2015-10-01

Variant appearance in text: rs77646904

PubMed Link: 26199320

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CFTR: V520I

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research

Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2014-02-11

Variant appearance in text: CFTR: V520I

PubMed Link: 24517344

Variant Present in the following documents:

• 1465-9921-15-18.pdf

View BVdb publication page

---

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: rs77646904

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1
• NIHMS512446-supplement-12.xlsx, sheet 2

View BVdb publication page

---

Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

The Journal Of Molecular Diagnostics : Jmd

Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM

Publication Date: 2009-05

Variant appearance in text: CFTR: V520I

PubMed Link: 19324992

Variant Present in the following documents:

• Main text

View BVdb publication page

---