E-LIB Suche - Ergebnisse für: Thomas, N. Simon

1

A gene pathogenicity tool "GenePy" identifies missed bialle..:

Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo...
Genetics in Medicine. 26 (2024) 4 - p. 101073 , 2024

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

2

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Effic..:

Seaby, Eleanor G. ; Thomas, N. Simon ; Hunt, David...
Healthcare. 11 (2023) 24 - p. 3179 , 2023

Link: https://doi.org/10.3390/..

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

The Palestinian primary ciliary dyskinesia population: firs..:

Rumman, Nisreen ; Fassad, Mahmoud R. ; Driessens, Corine...
ERJ Open Research. 9 (2023) 2 - p. 00714-2022 , 2023

Link: https://doi.org/10.1183/..

5

Biallelic variants in CEP164 cause a motile ciliopathy‐like..:

Devlin, Laura A. ; Coles, Janice ; Jackson, Claire L....
Clinical Genetics. 103 (2022) 3 - p. 330-334 , 2022

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

6

A systematic analysis of splicing variants identifies new d..:

Blakes, Alexander J. M. ; Wai, Htoo A. ; Davies, Ian...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

7

Targeting de novo loss-of-function variants in constrained ..:

Seaby, Eleanor G. ; Thomas, N. Simon ; Webb, Amy...
Human Genetics. 142 (2022) 3 - p. 351-362 , 2022

Link: https://doi.org/10.1007/..

8

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gen..:

Lin, Siying ; Sanchez-Bretaño, Aida ; Leslie, Joseph S....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

9

Genetic Analysis of Pediatric Primary Adrenal Insufficiency..:

Buonocore, Federica ; Maharaj, Avinaash ; Qamar, Younus...
Journal of the Endocrine Society. 5 (2021) 8 - p. , 2021

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

10

Rare dosage abnormalities flanking the SHOX gene:

Bunyan, David J. ; Gevers, Evelien ; Hobbs, James I....
Egyptian Journal of Medical Human Genetics. 22 (2021) 1 - p. , 2021

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

11

Whole genome sequencing in the diagnosis of primary ciliary..:

Wheway, Gabrielle ; Thomas, N. Simon ; Carroll, Mary...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

12

Correction: Blood RNA analysis can increase clinical diagno..:

Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew...
Genetics in Medicine. 22 (2020) 6 - p. 1129 , 2020

Link: https://doi.org/10.1038/..

13

Blood RNA analysis can increase clinical diagnostic rate an..:

Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew...
Genetics in Medicine. 22 (2020) 6 - p. 1005-1014 , 2020

Link: https://doi.org/10.1038/..

14

Screening of a large PAX6 cohort identified many novel vari..:

Cross, Esther ; Duncan-Flavell, Philippa J. ; Howarth, Rachel J....
European Journal of Medical Genetics. 63 (2020) 7 - p. 103940 , 2020

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

15

A CRISPR and high-content imaging assay compliant with ACMG..:

Nazlamova, Liliya ; Thomas, N. Simon ; Cheung, Man-Kim...
Human Genetics. 140 (2020) 4 - p. 593-607 , 2020

Link: https://doi.org/10.1007/..