E-LIB Suche - Ergebnisse für: Taylor, Jenny C

1

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

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

2

Iterative computational design and crystallographic screeni..:

Gahbauer, Stefan ; Correy, Galen J. ; Schuller, Marion...
Proceedings of the National Academy of Sciences. 120 (2023) 2 - p. , 2023

Link: https://doi.org/10.1073/..

3

Use of genome sequencing to hunt for cryptic second-hit var..:

Moore, A Rachel ; Yu, Jing ; Pei, Yang...
Journal of Medical Genetics. 60 (2023) 12 - p. 1235-1244 , 2023

Link: https://doi.org/10.1136/..

4

A Palindrome-Like Structure on 16p13.3 Is Associated with t..:

Pagnamenta, Alistair T. ; Yu, Jing ; Willis, Tracey A....
Human Mutation. 2023 (2023) - p. 1-9 , 2023

Link: https://doi.org/10.1155/..

5

Genome sequencing identifies KMT2E‐disrupting cryptic struc..:

Hashim, Mona ; Stewart, Helen ; Yu, Jing...
Clinical Genetics. 104 (2023) 3 - p. 390-392 , 2023

Link: https://doi.org/10.1111/..

6

The prevalence and phenotypic range associated with biallel..:

Pagnamenta, Alistair T. ; Belles, Rebecca S. ; Salbert, Bonnie Anne...
Clinical Genetics. 104 (2023) 1 - p. 121-126 , 2023

Link: https://doi.org/10.1111/..

7

Can polygenic risk scores contribute to cost-effective canc..:

Dixon, Padraig ; Keeney, Edna ; Taylor, Jenny C...
Genetics in Medicine. 24 (2022) 8 - p. 1604-1617 , 2022

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

8

Venus: Elucidating the Impact of Amino Acid Variants on Pro..:

Ferla, Matteo P. ; Pagnamenta, Alistair T. ; Koukouflis, Leonidas..
Journal of Molecular Biology. 434 (2022) 11 - p. 167567 , 2022

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

9

Provocation Testing and Therapeutic Response in a Newly Des..:

Ormerod, Julian O.M. ; Ormondroyd, Elizabeth ; Li, Yanhui...
Circulation: Genomic and Precision Medicine. 15 (2022) 1 - p. , 2022

Link: https://doi.org/10.1161/..

10

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revis..:

Stevenson, Mark ; Pagnamenta, Alistair T ; Mack, Heather G...
Journal of the Endocrine Society. 6 (2022) 7 - p. , 2022

Link: https://doi.org/10.1210/..

11

GREEN-DB: a framework for the annotation and prioritization..:

Giacopuzzi, Edoardo ; Popitsch, Niko ; Taylor, Jenny C
Nucleic Acids Research. 50 (2022) 5 - p. 2522-2535 , 2022

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

12

Conclusion of diagnostic odysseys due to inversions disrupt..:

Pagnamenta, Alistair T ; Yu, Jing ; Evans, Julie...
Journal of Medical Genetics. 60 (2022) 5 - p. 505-510 , 2022

Link: https://doi.org/10.1136/..

13

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

14

Using data from the 100,000 Genomes Project to resolve conf..:

Ragoussis, Vassilis ; Pagnamenta, Alistair T ; Haines, Rebecca L...
Journal of Medical Genetics. 59 (2021) 4 - p. 366-369 , 2021

Link: https://doi.org/10.1136/..

15

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1083-1094 , 2021

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