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: 1943A>T; Asp648Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: D648V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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The cystic fibrosis gene: a molecular genetic perspective.

Cold Spring Harbor Perspectives In Medicine

Tsui, Lap-Chee LC; Dorfman, Ruslan R

Publication Date: 2013-02-01

Variant appearance in text: CFTR: D648V

PubMed Link: 23378595

Variant Present in the following documents:

• Main text

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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: D648V

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

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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: D648V

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.

The Embo Journal

Lewis, Hal A HA; Buchanan, Sean G SG; Burley, Stephen K SK; Conners, Kris K; Dickey, Mark M; Dorwart, Michael M; Fowler, Richard R; Gao, Xia X; Guggino, William B WB; Hendrickson, Wayne A WA; Hunt, John F JF; Kearins, Margaret C MC; Lorimer, Don D; Maloney, Peter C PC; Post, Kai W KW; Rajashankar, Kanagalaghatta R KR; Rutter, Marc E ME; Sauder, J Michael JM; Shriver, Stephanie S; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Zhang, Marie M; Zhao, Xun X; Emtage, Spencer S

Publication Date: 2004-01-28

Variant appearance in text: CFTR: D648V

PubMed Link: 14685259

Variant Present in the following documents:

• Main text

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Genetic polymorphism and American Indian health.

The Western Journal Of Medicine

Long, Jeffrey C JC; Lorenz, Joseph G JG

Publication Date: 2002-05

Variant appearance in text: CFTR: D648V

PubMed Link: 12016249

Variant Present in the following documents:

• Main text

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Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Nature

Choi, J Y JY; Muallem, D D; Kiselyov, K K; Lee, M G MG; Thomas, P J PJ; Muallem, S S

Publication Date: 2001-03-01

Variant appearance in text: CFTR: D648V

PubMed Link: 11242048

Variant Present in the following documents:

• Main text

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