E-LIB Suche - Ergebnisse für: Cutting, Garry R.

1

Genetic variation in severe cystic fibrosis liver disease i..:

Stonebraker, Jaclyn R. ; Pace, Rhonda G. ; Gallins, Paul J....
Hepatology. , 2024

Link: https://doi.org/10.1097/..

2

In vitro modulator responsiveness of 655 CFTR variants foun..:

Bihler, Hermann ; Sivachenko, Andrey ; Millen, Linda...
Journal of Cystic Fibrosis. , 2024

Link: https://doi.org/10.1016/..

3

MagicalRsq-X: A cross-cohort transferable genotype imputati..:

Sun, Quan ; Yang, Yingxi ; Rosen, Jonathan D....
The American Journal of Human Genetics. 111 (2024) 5 - p. 990-995 , 2024

Link: https://doi.org/10.1016/..

4

The clinical utility of sequencing the entirety of CFTR:

Sheridan, Molly B ; Aksit, Melis A ; Pagel, Kymberleigh...
Journal of Cystic Fibrosis. , 2024

Link: https://doi.org/10.1016/..

5

Two rare variants that affect the same amino acid in CFTR h..:

Li, Hongyu ; Rodrat, Mayuree ; Al‐Salmani, Majid K....
The Journal of Physiology. 602 (2024) 2 - p. 333-354 , 2024

Link: https://doi.org/10.1113/..

6

Establishment of a conditionally reprogrammed primary eccri..:

Eastman, Alice C. ; Rosson, Gedge ; Kim, Noori...
Journal of Cystic Fibrosis. , 2024

Link: https://doi.org/10.1016/..

7

Use of adenine base editing and homology-independent target..:

Mention, Karen ; Cavusoglu-Doran, Kader ; Joynt, Anya T...
Human Molecular Genetics. 32 (2023) 23 - p. 3237-3248 , 2023

Link: https://doi.org/10.1093/..

8

Using the ACMG/AMP framework to capture evidence related to..:

Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R....
The American Journal of Human Genetics. 110 (2023) 7 - p. 1046-1067 , 2023

Link: https://doi.org/10.1016/..

9

Extracellular vesicles enhance pulmonary transduction of st..:

Kwak, Gijung ; Gololobova, Olesia ; Sharma, Neeraj...
Journal of Extracellular Vesicles. 12 (2023) 6 - p. , 2023

Link: https://doi.org/10.1002/..

10

Protospacer modification improves base editing of a canonic..:

Joynt, Anya T. ; Kavanagh, Erin W. ; Newby, Gregory A....
Molecular Therapy - Nucleic Acids. 33 (2023) - p. 335-350 , 2023

Link: https://doi.org/10.1016/..

11

Caution advised in the use of CFTR modulator treatment for ..:

Raraigh, Karen S. ; Lewis, Michelle H. ; Collaco, Joseph M....
Journal of Cystic Fibrosis. 21 (2022) 5 - p. 856-860 , 2022

Link: https://doi.org/10.1016/..

12

Leveraging TOPMed imputation server and constructing a coho..:

Sun, Quan ; Liu, Weifang ; Rosen, Jonathan D....
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100090 , 2022

Link: https://doi.org/10.1016/..

13

In Memoriam: Haig H. Kazazian, Jr. (1937–2022):

Cutting, Garry R.
Human Mutation. 43 (2022) 4 - p. 447-448 , 2022

Link: https://doi.org/10.1002/..

14

Calibration of computational tools for missense variant pat..:

Pejaver, Vikas ; Byrne, Alicia B. ; Feng, Bing-Jian...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2163-2177 , 2022

Link: https://doi.org/10.1016/..

15

Complete CFTR gene sequencing in 5,058 individuals with cys..:

Raraigh, Karen S ; Aksit, Melis A ; Hetrick, Kurt...
Journal of Cystic Fibrosis. 21 (2022) 3 - p. 463-470 , 2022

Link: https://doi.org/10.1016/..