Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 595C>T; His199Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: H199Y

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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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: H199Y

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

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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: H199Y

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

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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: 595C>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

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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: 595C>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

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Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Human Mutation

Liu, Juan J; Zheng, Yu Y; Huang, Jiaotian J; Zhu, Desheng D; Zang, Ping P; Luo, Zhenqing Z; Yang, Yongjia Y; Peng, Yu Y; Xiao, Zhenghui Z; Zhu, Yimin Y; Lu, Xiulan X

Publication Date: 2021-11

Variant appearance in text: CFTR: 595C>T; His199Tyr

PubMed Link: 34298581

Variant Present in the following documents:

• Main text
• HUMU-42-1443.pdf

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: CFTR: His199Tyr

PubMed Link: 33138774

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1153.pdf

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Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening

Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H

Publication Date: 2020-06

Variant appearance in text: CFTR: H199Y

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Orphanet Journal Of Rare Diseases

Liu, Keqiang K; Xu, Wenshuai W; Xiao, Meng M; Zhao, Xinyue X; Bian, Chun C; Zhang, Qianli Q; Song, Jiaxing J; Chen, Keqi K; Tian, Xinlun X; Liu, Yaping Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2020-06-15

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 32539862

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1393.pdf

View BVdb publication page

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The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.

Genes

Farrell, Philip M PM; Rock, Michael J MJ; Baker, Mei W MW

Publication Date: 2020-04-08

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 32276344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology

Billet, Arnaud A; Elbahnsi, Ahmad A; Jollivet-Souchet, Mathilde M; Hoffmann, Brice B; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2020

Variant appearance in text: CFTR: H199Y

PubMed Link: 32256364

Variant Present in the following documents:

• Main text
• fphar-11-00295.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 595C>T; His199Tyr; rs121908802

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 595C>T; H199Y

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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c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases

Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M

Publication Date: 2019-08-06

Variant appearance in text: CFTR: 595C>T

PubMed Link: 31423445

Variant Present in the following documents:

• Main text
• WJCC-7-2110.pdf

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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: 595C>T; His199Tyr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: 595C>T; His199Tyr

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

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Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Orphanet Journal Of Rare Diseases

Guo, Xiaobei X; Liu, Keqiang K; Liu, Yaping Y; Situ, Yusen Y; Tian, Xinlun X; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2018-12-17

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 30558651

Variant Present in the following documents:

• Main text
• 13023_2018_Article_968.pdf

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: 595C>T; His199Tyr; rs121908802

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Genetic Testing And Molecular Biomarkers

Salinas, Danieli Barino DB; Azen, Colleen C; Young, Suzanne S; Keens, Thomas G TG; Kharrazi, Martin M; Parad, Richard B RB

Publication Date: 2016-09

Variant appearance in text: CFTR: H199Y

PubMed Link: 27447098

Variant Present in the following documents:

• Main text

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: CFTR: H199Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Assessing Differences in Mortality Rates and Risk Factors Between Hispanic and Non-Hispanic Patients With Cystic Fibrosis in California.

Chest

Buu, MyMy C MC; Sanders, Lee M LM; Mayo, Jonathan A JA; Milla, Carlos E CE; Wise, Paul H PH

Publication Date: 2016-02

Variant appearance in text: CFTR: H199Y

PubMed Link: 26086984

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 595C>T; His199Tyr

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

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

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: H199Y

PubMed Link: 24517344

Variant Present in the following documents:

• Main text
• 1465-9921-15-18.pdf

View BVdb publication page

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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: CFTR: His199Tyr

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1
• nihms-512446.pdf
• NIHMS512446-supplement-12.xlsx, sheet 2

View BVdb publication page

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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd

Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,

Publication Date: 2013-09

Variant appearance in text: CFTR: H199Y

PubMed Link: 23810505

Variant Present in the following documents:

• Main text

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 595C>T; H199Y

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

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

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: H199Y

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: H199Y

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A

Publication Date: 2005-05

Variant appearance in text: CFTR: H199Y

PubMed Link: 15858154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Bmc Medical Genetics

D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G

Publication Date: 2004-04-14

Variant appearance in text: CFTR: H199Y

PubMed Link: 15084222

Variant Present in the following documents:

• Main text
• 1471-2350-5-8.pdf

View BVdb publication page

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