Publications:

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: CFTR: 2249C>T; Pro750Leu

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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CFTR heterozygosity in severe asthma with recurrent airway infections: a retrospective review.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Priel, Eldar E; Adatia, Adil A; Kjarsgaard, Melanie M; Nair, Parameswaran P

Publication Date: 2022-06-06

Variant appearance in text: CFTR: 2249C>T

PubMed Link: 35668512

Variant Present in the following documents:

• Main text
• 13223_2022_Article_684.pdf

View BVdb publication page

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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: 2249C>T; P750L; rs140455771

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: P750L

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: P750L

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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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: rs140455771

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: 2249C>T; Pro750Leu; rs140455771

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs140455771

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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: CFTR: 2249C>T; Pro750Leu; rs140455771

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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Linker Domains: Why ABC Transporters 'Live in Fragments no Longer'.

Trends In Biochemical Sciences

Ford, Robert C RC; Marshall-Sabey, Dominic D; Schuetz, John J

Publication Date: 2020-02

Variant appearance in text: ABCC7: P750L

PubMed Link: 31839525

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.

Bmc Medical Genomics

Martínez-Hernández, Angélica A; Larrosa, Julieta J; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Mendoza-Caamal, Elvia C EC; Contreras-Cubas, Cecilia C; Mirzaeicheshmeh, Elaheh E; Lezana, José Luis JL; Orozco, Lorena L

Publication Date: 2019-05-22

Variant appearance in text: CFTR: P750L

PubMed Link: 31118044

Variant Present in the following documents:

• 12920_2019_Article_528.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CFTR: P750L; rs140455771

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics

Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR

Publication Date: 2018-06-07

Variant appearance in text: CFTR: 2249C>T; Pro750Leu

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2249C>T; P750L

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Molecular Genetics & Genomic Medicine

Ortiz, Sofía C SC; Aguirre, Santiago J SJ; Flores, Sofía S; Maldonado, Claudio C; Mejía, Juan J; Salinas, Lilian L

Publication Date: 2017-11

Variant appearance in text: CFTR: P750L

PubMed Link: 29178639

Variant Present in the following documents:

• MGG3-5-751.pdf

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: P750L

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

View BVdb publication page

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Detection of CFTR function and modulation in primary human nasal cell spheroids.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Brewington, John J JJ; Filbrandt, Erin T ET; LaRosa, F J FJ; Ostmann, Alicia J AJ; Strecker, Lauren M LM; Szczesniak, Rhonda D RD; Clancy, John P JP

Publication Date: 2018-01

Variant appearance in text: CFTR: 2249C>T

PubMed Link: 28712885

Variant Present in the following documents:

• Main text

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: CFTR: 2249C>T; Pro750Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: rs140455771

PubMed Link: 26199320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Total pancreatectomy with islet cell autotransplantation as the initial treatment for minimal-change chronic pancreatitis.

Hpb : The Official Journal Of The International Hepato Pancreato Biliary Association

Wilson, Gregory C GC; Sutton, Jeffrey M JM; Smith, Milton T MT; Schmulewitz, Nathan N; Salehi, Marzieh M; Choe, Kyuran A KA; Brunner, John E JE; Abbott, Daniel E DE; Sussman, Jeffrey J JJ; Ahmad, Syed A SA

Publication Date: 2015-03

Variant appearance in text: CFTR: P750L

PubMed Link: 25297689

Variant Present in the following documents:

• Main text

View BVdb publication page

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The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.

Plos One

Sanchez-Dominguez, Celia N CN; Reyes-Lopez, Miguel A MA; Bustamante, Adriana A; Cerda-Flores, Ricardo M RM; Villalobos-Torres, Maria Del C Mdel C; Gallardo-Blanco, Hugo L HL; Rojas-Martinez, Augusto A; Martinez-Rodriguez, Herminia G HG; Barrera-Saldaña, Hugo A HA; Ortiz-Lopez, Rocio R

Publication Date: 2014

Variant appearance in text: CFTR: P750L

PubMed Link: 24603877

Variant Present in the following documents:

• Main text
• pone.0090945.pdf

View BVdb publication page

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