Publications:

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Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences

Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2022-12-02

Variant appearance in text: CFTR: S1235R

PubMed Link: 36499495

Variant Present in the following documents:

• ijms-23-15170.pdf

View BVdb publication page

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: S1235R

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

View BVdb publication page

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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One

Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E

Publication Date: 2022

Variant appearance in text: CFTR: S1235R

PubMed Link: 36264955

Variant Present in the following documents:

• Main text
• pone.0276397.pdf

View BVdb publication page

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Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.

Journal Of Personalized Medicine

Silva, Iris A L IAL; Laselva, Onofrio O; Lopes-Pacheco, Miquéias M

Publication Date: 2022-08-16

Variant appearance in text: CFTR: S1235R

PubMed Link: 36013270

Variant Present in the following documents:

• jpm-12-01321.pdf

View BVdb publication page

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: S1235R

PubMed Link: 35740997

Variant Present in the following documents:

• cells-11-01868.pdf

View BVdb publication page

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Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-05-18

Variant appearance in text: CFTR: S1235R

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-04-13

Variant appearance in text: CFTR: S1235R

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.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: 3705T>G; S1235R; rs34911792

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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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: S1235R

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

View BVdb publication page

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: S1235R

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.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: rs34911792

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: S1235R

PubMed Link: 34326672

Variant Present in the following documents:

• jep-13-693.pdf

View BVdb publication page

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Association of the CFTR gene with asthma and airway mucus hypersecretion.

Plos One

Crespo-Lessmann, Astrid A; Bernal, Sara S; Del Río, Elisabeth E; Rojas, Ester E; Martínez-Rivera, Carlos C; Marina, Nuria N; Pallarés-Sanmartín, Abel A; Pascual, Silvia S; García-Rivero, Juan Luis JL; Padilla-Galo, Alicia A; Curto, Elena E; Cisneros, Carolina C; Serrano, José J; Baiget, Montserrat M; Plaza, Vicente V; ,

Publication Date: 2021

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg

PubMed Link: 34086689

Variant Present in the following documents:

• Main text
• pone.0251881.pdf

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: 3705T>G; Ser1235Arg; rs34911792

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 6

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: S1235R

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: S1235R

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: S1235R

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

View BVdb publication page

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A new role for heat shock factor 27 in the pathophysiology of Clostridium difficile toxin B.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Yanda, Murali K MK; Guggino, William B WB; Cebotaru, Liudmila L

Publication Date: 2020-01-01

Variant appearance in text: CFTR: S1235R

PubMed Link: 31709831

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.

Npj Genomic Medicine

Sugunaraj, J P JP; Brosius, H M HM; Murray, M F MF; Manickam, K K; Stamm, J A JA; Carey, D J DJ; Mirshahi, U L UL

Publication Date: 2019

Variant appearance in text: CFTR: 3705T>G; S1235R

PubMed Link: 31508243

Variant Present in the following documents:

• Main text
• 41525_2019_95_MOESM1_ESM.pdf
• 41525_2019_Article_95.pdf

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: CFTR: 3705T>G; S1235R

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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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg; rs34911792

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Plos One

Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D

Publication Date: 2018

Variant appearance in text: CFTR: S1235R

PubMed Link: 30379828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-guided combination therapy to potently improve the function of mutant CFTRs.

Nature Medicine

Veit, Guido G; Xu, Haijin H; Dreano, Elise E; Avramescu, Radu G RG; Bagdany, Miklos M; Beitel, Lenore K LK; Roldan, Ariel A; Hancock, Mark A MA; Lay, Cecilia C; Li, Wei W; Morin, Katelin K; Gao, Sandra S; Mak, Puiying A PA; Ainscow, Edward E; Orth, Anthony P AP; McNamara, Peter P; Edelman, Aleksander A; Frenkiel, Saul S; Matouk, Elias E; Sermet-Gaudelus, Isabelle I; Barnes, William G WG; Lukacs, Gergely L GL

Publication Date: 2018-11

Variant appearance in text: CFTR: S1235R

PubMed Link: 30297908

Variant Present in the following documents:

• Main text

View BVdb publication page

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Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study.

Annals Of The American Thoracic Society

Teerapuncharoen, Krittika K; Wells, J Michael JM; Raju, S Vamsee SV; Raraigh, Karen S KS; Atalar Aksit, Melis M; Cutting, Garry R GR; Rasmussen, Lawrence L; Nath, P Hrudaya PH; Bhatt, Surya P SP; Solomon, George M GM; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2019-01

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg

PubMed Link: 30230364

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.

Cell Reports

Wang, Chao C; Balch, William E WE

Publication Date: 2018-08-21

Variant appearance in text: CFTR: S1235R

PubMed Link: 30134164

Variant Present in the following documents:

• NIHMS986613-supplement-1.pdf

View BVdb publication page

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Rescue of CFTR NBD2 mutants N1303K and S1235R is influenced by the functioning of the autophagosome.

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

Liu, Qiangni Q; Sabirzhanova, Inna I; Yanda, Murali K MK; Bergbower, Emily A S EAS; Boinot, Clément C; Guggino, William B WB; Cebotaru, Liudmila L

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29936070

Variant Present in the following documents:

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: 3705T>G; Ser1235Arg

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

View BVdb publication page

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Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Plos One

Zahid, Maliha M; Bais, Abha A; Tian, Xin X; Devine, William W; Lee, Dong Ming DM; Yau, Cyrus C; Sonnenberg, Daniel D; Beerman, Lee L; Khalifa, Omar O; Lo, Cecilia W CW

Publication Date: 2018

Variant appearance in text: CFTR: S1235R; rs34911792

PubMed Link: 29444099

Variant Present in the following documents:

• pone.0191605.s014.xlsx, sheet 3

View BVdb publication page

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Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Human Molecular Genetics

Avramescu, Radu G RG; Kai, Yukari Y; Xu, Haijin H; Bidaud-Meynard, Aurélien A; Schnúr, Andrea A; Frenkiel, Saul S; Matouk, Elias E; Veit, Guido G; Lukacs, Gergely L GL

Publication Date: 2017-12-15

Variant appearance in text: N/A

PubMed Link: 29040544

Variant Present in the following documents:

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: S1235R

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.pdf

View BVdb publication page

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Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry

Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD

Publication Date: 2017-08-25

Variant appearance in text: N/A

PubMed Link: 28655774

Variant Present in the following documents:

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: 3705T>G; Ser1235Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics

Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A

Publication Date: 2017-07

Variant appearance in text: N/A

PubMed Link: 28502372

Variant Present in the following documents:

View BVdb publication page

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Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Lopes-Pacheco, Miquéias M; Boinot, Clément C; Sabirzhanova, Inna I; Rapino, Daniele D; Cebotaru, Liudmila L

Publication Date: 2017

Variant appearance in text: CFTR: S1235R

PubMed Link: 28448979

Variant Present in the following documents:

• nihms-1563253.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CFTR: S1235R; rs34911792

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 3705T>G; S1235R

PubMed Link: 28261631

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Molecular Genetics & Genomic Medicine

Leung, Gordon K C GK; Ying, Dingge D; Mak, Christopher C Y CC; Chen, Xin-Ying XY; Xu, Weiyi W; Yeung, Kit-San KS; Wong, Wai-Lap WL; Chu, Yoyo W Y YW; Mok, Gary T K GT; Chau, Christy S K CS; McLuskey, Jenna J; Ong, Winnie P T WP; Leong, Huey-Yin HY; Chan, Kelvin Y K KY; Yang, Wanling W; Chen, Jeng-Haur JH; Li, Albert M AM; Sham, Pak C PC; Lau, Yu-Lung YL; Chung, Brian H Y BH; Lee, So-Lun SL

Publication Date: 2017-01

Variant appearance in text: N/A

PubMed Link: 28116329

Variant Present in the following documents:

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2016

Variant appearance in text: CFTR: S1235R

PubMed Link: 27656143

Variant Present in the following documents:

• Main text
• fphar-07-00275.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CFTR: 3705T>G; S1235R; rs34911792

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CFTR: S1235R; rs34911792

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Da Sacco, Letizia L; Surace, Cecilia C; Tomaiuolo, Anna Cristina AC; Genovese, Silvia S; Grotta, Simona S; Gnazzo, Maria M; Ciocca, Laura L; Petrocchi, Stefano S; Alghisi, Federico F; Montemitro, Enza E; Martemucci, Luigi L; Elce, Ausilia A; Lucidi, Vincenzina V; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2016-09

Variant appearance in text: CFTR: 3705T>G; S1235R

PubMed Link: 27264265

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas

Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M

Publication Date: 2016-10

Variant appearance in text: N/A

PubMed Link: 27171515

Variant Present in the following documents:

View BVdb publication page

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Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.

Plos Computational Biology

Masica, David L DL; Karchin, Rachel R

Publication Date: 2016-05

Variant appearance in text: CFTR: S1235R

PubMed Link: 27171182

Variant Present in the following documents:

• Main text
• pcbi.1004725.pdf

View BVdb publication page

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Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.

Human Genome Variation

Stittrich, Anna B AB; Ashworth, Justin J; Shi, Mude M; Robinson, Max M; Mauldin, Denise D; Brunkow, Mary E ME; Biswas, Shameek S; Kim, Jin-Man JM; Kwon, Ki-Sun KS; Jung, Jae U JU; Galas, David D; Serikawa, Kyle K; Duerr, Richard H RH; Guthery, Stephen L SL; Peschon, Jacques J; Hood, Leroy L; Roach, Jared C JC; Glusman, Gustavo G

Publication Date: 2016

Variant appearance in text: rs34911792

PubMed Link: 27081563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics

Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H

Publication Date: 2016

Variant appearance in text: N/A

PubMed Link: 27022295

Variant Present in the following documents:

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CFTR: S1235R; rs34911792

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11
• NIHMS753666-supplement-2.xlsx, sheet 10

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: 3705T>G; S1235R

PubMed Link: 26900683

Variant Present in the following documents:

• Main text

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell

Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL

Publication Date: 2016-02-01

Variant appearance in text: N/A

PubMed Link: 26823392

Variant Present in the following documents:

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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: rs34911792

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: 3705T>G; S1235R; rs34911792

PubMed Link: 26436105

Variant Present in the following documents:

• Main text

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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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 3705T>G; S1235R

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 3705T>G; Ser1235Arg

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: CFTR: S1235R; rs34911792

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10

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Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants.

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

Salinas, Danieli Barino DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M

Publication Date: 2015-11

Variant appearance in text: CFTR: 3705T>G; S1235R

PubMed Link: 25824995

Variant Present in the following documents:

• Main text

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs34911792

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.

Plos One

Rapino, Daniele D; Sabirzhanova, Inna I; Lopes-Pacheco, Miquéias M; Grover, Rahul R; Guggino, William B WB; Cebotaru, Liudmila L

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 25799511

Variant Present in the following documents:

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