Publications:

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 650A>G; Glu217Gly

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.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: 650A>G; E217G; rs121909046

PubMed Link: 35313924

Variant Present in the following documents:

• Main text
• 13023_2022_2279_MOESM1_ESM.xls, sheet 1
• 13023_2022_Article_2279.pdf

View BVdb publication page

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: E217G; rs121909046

PubMed Link: 34860163

Variant Present in the following documents:

• Main text
• bmj-38-6-357.pdf

View BVdb publication page

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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: rs121909046

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: CFTR: E217G; rs121909046

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 650A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 650A>G

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.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: rs121909046

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Human Molecular Genetics

Aavikko, Mervi M; Kaasinen, Eevi E; Andersson, Noora N; Pentinmikko, Nalle N; Sulo, Päivi P; Donner, Iikki I; Pihlajamaa, Päivi P; Kuosmanen, Anna A; Bramante, Simona S; Katainen, Riku R; Sipilä, Lauri J LJ; Martin, Samantha S; Arola, Johanna J; Carpén, Olli O; Heiskanen, Ilkka I; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Ristimäki, Ari A; Lehti, Kaisa K; Gucciardo, Erika E; Katajisto, Pekka P; Schalin-Jäntti, Camilla C; Vahteristo, Pia P; Aaltonen, Lauri A LA

Publication Date: 2021-11-30

Variant appearance in text: rs121909046

PubMed Link: 34274970

Variant Present in the following documents:

• Main text
• ddab206.pdf

View BVdb publication page

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Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants.

Frontiers In Pediatrics

Guo, Jing J; He, Rong R; Mao, Zhi-Qin ZQ

Publication Date: 2021

Variant appearance in text: CFTR: E217G

PubMed Link: 33937153

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

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: rs121909046

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

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Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences

Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2021-01-16

Variant appearance in text: rs121909046

PubMed Link: 33467215

Variant Present in the following documents:

• Main text
• ijms-22-00878.pdf

View BVdb publication page

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Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.

Journal Of Personalized Medicine

Han, Nayoung N; Oh, Jung Mi JM; Kim, In-Wha IW

Publication Date: 2021-01-07

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 33430289

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: E217G

PubMed Link: 32429104

Variant Present in the following documents:

• Main text

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: 650A>G; Glu217Gly; rs121909046

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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Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Clinical And Translational Gastroenterology

Wang, Wei W; Xiao, Yuan Y; Wang, Xinqiong X; Zhou, Yiran Y; Wang, Ting T; Xv, Chundi C; Shen, Bai-Yong BY

Publication Date: 2020-03

Variant appearance in text: CFTR: E217G; rs121909046

PubMed Link: 32352720

Variant Present in the following documents:

• ct9-11-e00150.pdf

View BVdb publication page

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CFTR transmembrane segments are impaired in their conformational adaptability by a pathogenic loop mutation and dynamically stabilized by Lumacaftor.

The Journal Of Biological Chemistry

Krainer, Georg G; Schenkel, Mathias M; Hartmann, Andreas A; Ravamehr-Lake, Dorna D; Deber, Charles M CM; Schlierf, Michael M

Publication Date: 2020-02-14

Variant appearance in text: CFTR: E217G

PubMed Link: 31882543

Variant Present in the following documents:

• Main text

View BVdb publication page

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Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey

Turkish Journal Of Medical Sciences

Başaran, Abdurrahman Erdem AE; Başaran, Ayşen A; Kocacik, Dilara Fatma DF; Alper, Özgül Ö; Acican, Deniz D; Bingöl, Ayşen A

Publication Date: 2019-12-16

Variant appearance in text: CFTR: E217G

PubMed Link: 31655510

Variant Present in the following documents:

• turkjmedsci-49-1655.pdf

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: CFTR: E217G

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine

Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M

Publication Date: 2019-08

Variant appearance in text: CFTR: 650A>G; Glu217Gly

PubMed Link: 31245908

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: CFTR: 650A>G; E217G

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation

Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T

Publication Date: 2019

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 30992994

Variant Present in the following documents:

• Main text
• 41439_2019_Article_49.pdf

View BVdb publication page

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Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: 650A>G; E217G

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs121909046

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: 650A>G; E217G; rs121909046

PubMed Link: 29997923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment with proteasome inhibitor bortezomib decreases organic anion transporting polypeptide (OATP) 1B3-mediated transport in a substrate-dependent manner.

Plos One

Alam, Khondoker K; Farasyn, Taleah T; Crowe, Alexandra A; Ding, Kai K; Yue, Wei W

Publication Date: 2017

Variant appearance in text: CFTR: E217G

PubMed Link: 29107984

Variant Present in the following documents:

• pone.0186924.pdf

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: CFTR: E217G; rs121909046

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

View BVdb publication page

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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Hepatology (Baltimore, Md.)

Qiu, Yi-Ling YL; Gong, Jing-Yu JY; Feng, Jia-Yan JY; Wang, Ren-Xue RX; Han, Jun J; Liu, Teng T; Lu, Yi Y; Li, Li-Ting LT; Zhang, Mei-Hong MH; Sheps, Jonathan A JA; Wang, Neng-Li NL; Yan, Yan-Yan YY; Li, Jia-Qi JQ; Chen, Lian L; Borchers, Christoph H CH; Sipos, Bence B; Knisely, A S AS; Ling, Victor V; Xing, Qing-He QH; Wang, Jian-She JS

Publication Date: 2017-05

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 28027573

Variant Present in the following documents:

• HEP-65-1655-s001.pdf

View BVdb publication page

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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Plos One

Wang, Neng-Li NL; Lu, Yu-Lan YL; Zhang, Ping P; Zhang, Mei-Hong MH; Gong, Jing-Yu JY; Lu, Yi Y; Xie, Xin-Bao XB; Qiu, Yi-Ling YL; Yan, Yan-Yan YY; Wu, Bing-Bing BB; Wang, Jian-She JS

Publication Date: 2016

Variant appearance in text: CFTR: 650A>G; E217G

PubMed Link: 27706244

Variant Present in the following documents:

• Main text
• pone.0164058.pdf

View BVdb publication page

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One

Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G

Publication Date: 2016

Variant appearance in text: CFTR: E217G

PubMed Link: 26900683

Variant Present in the following documents:

• Main text
• pone.0149426.pdf

View BVdb publication page

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 26436105

Variant Present in the following documents:

• Main text
• mgg30003-0396.pdf

View BVdb publication page

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Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Kondo, Shiho S; Fujiki, Kotoyo K; Ko, Shigeru B H SB; Yamamoto, Akiko A; Nakakuki, Miyuki M; Ito, Yasutomo Y; Shcheynikov, Nikolay N; Kitagawa, Motoji M; Naruse, Satoru S; Ishiguro, Hiroshi H

Publication Date: 2015-08-15

Variant appearance in text: CFTR: 650A>G; E217G

PubMed Link: 26089335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology

Schlebach, Jonathan P JP; Sanders, Charles R CR

Publication Date: 2015-06

Variant appearance in text: CFTR: E217G

PubMed Link: 25192979

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: 650A>G; E217G

PubMed Link: 24586523

Variant Present in the following documents:

• Main text
• pone.0089094.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CFTR: E217G

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One

Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C

Publication Date: 2013

Variant appearance in text: CFTR: E217G

PubMed Link: 23951356

Variant Present in the following documents:

• pone.0073522.s001.xls, sheet 1

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: CFTR: 650A>G; E217G; rs121909046

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Association of CFTR gene mutation with bronchial asthma.

The Indian Journal Of Medical Research

Maurya, Nutan N; Awasthi, Shally S; Dixit, Pratibha P

Publication Date: 2012-04

Variant appearance in text: CFTR: E217G

PubMed Link: 22664493

Variant Present in the following documents:

• Main text
• IJMR-135-469.pdf

View BVdb publication page

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Prenatal screening of Cystic Fibrosis: a single centre experience.

Journal Of Prenatal Medicine

Bizzoco, Domenico D; Mesoraca, Alvaro A; Cima, Antonella A; Sarti, Monica M; Di Giacomo, Gianluca G; Scerra, Giovanna G; Barone, Maria Antonietta MA; Di Natale, Manuela M; Gabrielli, Ivan I; Tamburino, Caterina C; Scargiali, Claudia C; Ernandez, Cristina C; D'Aleo, Maria Pia MP; Todini, Michele M; Pompili, Rita R; Mobili, Luisa L; Mangiafico, Lucia L; Carcioppolo, Ornella O; Coco, Claudio C; Cignini, Pietro P; D'Emidio, Laura L; Girgenti, Alessandra A; Brizzi, Cristiana C; Cavaliere, Alessandro A; Giorlandino, Claudio C

Publication Date: 2008-01

Variant appearance in text: CFTR: E217G

PubMed Link: 22439019

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.

Yonsei Medical Journal

Kim, Kyung Won KW; Lee, Ji Hyun JH; Lee, Min Goo MG; Kim, Kyung Hwan KH; Sohn, Myung Hyun MH; Kim, Kyu-Earn KE

Publication Date: 2010-11

Variant appearance in text: CFTR: E217G

PubMed Link: 20879059

Variant Present in the following documents:

• Main text
• ymj-51-912.pdf

View BVdb publication page

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The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.

Journal Of Korean Medical Science

Gee, Heon Yung HY; Kim, Chang Keun CK; Kim, So Won SW; Lee, Ji Hyun JH; Kim, Jeong-Ho JH; Kim, Kyung Hwan KH; Lee, Min Goo MG

Publication Date: 2010-01

Variant appearance in text: CFTR: E217G

PubMed Link: 20052366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Journal Of Korean Medical Science

Koh, Won-Jung WJ; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Jeong-Ho JH; Lim, Seong Yong SY

Publication Date: 2006-06

Variant appearance in text: CFTR: 650A>G

PubMed Link: 16778407

Variant Present in the following documents:

• jkms-21-563.pdf

View BVdb publication page

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