Publications:

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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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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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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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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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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: 1488G>A; W496*

PubMed Link: 26502337

Variant Present in the following documents:

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

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CFTR: 1488G>A; W496*

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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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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