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: 1487G>A; Trp496Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 1487G>A; W496X

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: W496X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: W496X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFTR: 1487G>A; W496*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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New Directions in Pulmonary Gene Therapy.

Human Gene Therapy

Vu, Amber A; McCray, Paul B PB

Publication Date: 2020-09

Variant appearance in text: CFTR: W496X

PubMed Link: 32814451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treating Cystic Fibrosis with mRNA and CRISPR.

Human Gene Therapy

Da Silva Sanchez, Alejandro A; Paunovska, Kalina K; Cristian, Ana A; Dahlman, James E JE

Publication Date: 2020-09

Variant appearance in text: CFTR: W496X

PubMed Link: 32799680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons.

International Journal Of Molecular Sciences

Melfi, Raffaella R; Cancemi, Patrizia P; Chiavetta, Roberta R; Barra, Viviana V; Lentini, Laura L; Di Leonardo, Aldo A

Publication Date: 2020-07-06

Variant appearance in text: CFTR: W496X

PubMed Link: 32640650

Variant Present in the following documents:

• Main text
• ijms-21-04781.pdf

View BVdb publication page

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Gene and Base Editing as a Therapeutic Option for Cystic Fibrosis-Learning from Other Diseases.

Genes

Mention, Karen K; Santos, Lúcia L; Harrison, Patrick T PT

Publication Date: 2019-05-21

Variant appearance in text: CFTR: W496X

PubMed Link: 31117296

Variant Present in the following documents:

• Main text
• genes-10-00387.pdf

View BVdb publication page

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

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

Yuan, Bo B; Neira, Juanita J; Pehlivan, Davut D; Santiago-Sim, Teresa T; Song, Xiaofei X; Rosenfeld, Jill J; Posey, Jennifer E JE; Patel, Vipulkumar V; Jin, Weihong W; Adam, Margaret P MP; Baple, Emma L EL; Dean, John J; Fong, Chin-To CT; Hickey, Scott E SE; Hudgins, Louanne L; Leon, Eyby E; Madan-Khetarpal, Suneeta S; Rawlins, Lettie L; Rustad, Cecilie F CF; Stray-Pedersen, Asbjørg A; Tveten, Kristian K; Wenger, Olivia O; Diaz, Jullianne J; Jenkins, Laura L; Martin, Laura L; McGuire, Marianne M; Pietryga, Marguerite M; Ramsdell, Linda L; Slattery, Leah L; , ; Abid, Farida F; Bertuch, Alison A AA; Grange, Dorothy D; Immken, LaDonna L; Schaaf, Christian P CP; Van Esch, Hilde H; Bi, Weimin W; Cheung, Sau Wai SW; Breman, Amy M AM; Smith, Janice L JL; Shaw, Chad C; Crosby, Andrew H AH; Eng, Christine C; Yang, Yaping Y; Lupski, James R JR; Xiao, Rui R; Liu, Pengfei P

Publication Date: 2019-03

Variant appearance in text: CFTR: 1487G>A

PubMed Link: 30158690

Variant Present in the following documents:

• Main text

View BVdb publication page

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A to I editing in disease is not fake news.

Rna Biology

Bajad, Prajakta P; Jantsch, Michael F MF; Keegan, Liam L; O'Connell, Mary M

Publication Date: 2017-09-02

Variant appearance in text: CFTR: W496X

PubMed Link: 28346055

Variant Present in the following documents:

• Main text
• krnb-14-09-1306173.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CFTR: 1487G>A; W496*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CFTR: 1487G>A; W496*

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Montiel-Gonzalez, Maria Fernanda MF; Vallecillo-Viejo, Isabel I; Yudowski, Guillermo A GA; Rosenthal, Joshua J C JJ

Publication Date: 2013-11-05

Variant appearance in text: CFTR: W496X

PubMed Link: 24108353

Variant Present in the following documents:

• Main text

View BVdb publication page

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