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: 680T>G; Leu227Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: L227R

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: L227R

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

View BVdb publication page

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Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.

Scientific Reports

Calucho, Maite M; Gartner, Silvia S; Barranco, Paula P; Fernández-Álvarez, Paula P; Pérez, Raquel García RG; Tizzano, Eduardo F EF

Publication Date: 2021-07-30

Variant appearance in text: CFTR: L227R

PubMed Link: 34330959

Variant Present in the following documents:

• Main text
• 41598_2021_Article_94798.pdf

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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: L227R

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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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: 680T>G; L227R

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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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: 680T>G; L227R

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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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: L227R

PubMed Link: 30134164

Variant Present in the following documents:

• NIHMS986613-supplement-1.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs397508782

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.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: CFTR: L227R

PubMed Link: 28502372

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: 680T>G; Leu227Arg

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

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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: 680T>G; L227R

PubMed Link: 25674778

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: L227R

PubMed Link: 25192979

Variant Present in the following documents:

• Main text

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: 680T>G; L227R

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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