E-LIB Suche - Ergebnisse für: Chioza, Barry A.

1

Quantifying the proportion of different cell types in the h..:

Hannon, Eilis ; Dempster, Emma L. ; Davies, Jonathan P....
BMC Biology. 22 (2024) 1 - p. , 2024

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

2

W76. CELL-SPECIFIC METHYLOMIC VARIATION IN NEURODEVELOPMENT..:

Mill, Jonathan ; Hannon, Eilis ; Dempster, Emma...
European Neuropsychopharmacology. 75 (2023) - p. S144-S145 , 2023

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

3

Mutations inMINAR2encoding membrane integral NOTCH2-associa..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Proceedings of the National Academy of Sciences. 119 (2022) 26 - p. , 2022

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

4

DNA methylation signatures of Alzheimer's disease neuropath..:

Shireby, Gemma ; Dempster, Emma L. ; Policicchio, Stefania...
Nature Communications. 13 (2022) 1 - p. , 2022

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

5

89. IDENTIFYING CELL-TYPE-SPECIFIC EPIGENETIC VARIATION IN ..:

Hannon, Eilis ; Davies, Jonathan ; Chioza, Barry...
European Neuropsychopharmacology. 63 (2022) - p. e93-e94 , 2022

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

6

Elucidating the clinical spectrum and molecular basis of HY..:

Fasham, James ; Lin, Siying ; Ghosh, Promita...
Genetics in Medicine. 24 (2022) 3 - p. 631-644 , 2022

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

7

1. DEVELOPMENTAL TRAJECTORIES OF DNA METHYLATION IN NEURAL ..:

Davies, Jonathan ; Franklin, Alice ; Walker, Emma...
European Neuropsychopharmacology. 63 (2022) - p. e44 , 2022

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

8

A recurrent rare intronic variant in CAPN3 alters mRNA spli..:

Khan, Kamal ; Mehmood, Sarmad ; Liu, Chunyu...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 498-508 , 2021

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

9

35. CELL-TYPE-SPECIFIC PATTERNS OF DNA METHYLATION IN THE D..:

Davies, Jonathan ; Franklin, Alice ; Commin, Gina...
European Neuropsychopharmacology. 51 (2021) - p. e59-e60 , 2021

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

10

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Ammous, Zineb ; Rawlins, Lettie E. ; Jones, Hannah...
PLOS Genetics. 17 (2021) 9 - p. e1009803 , 2021

Link: https://doi.org/10.1371/..

11

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain. 144 (2021) 12 - p. 3597-3610 , 2021

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

12

In Silico analysis of SIGMAR1 gene causing distal hereditar..:

Mehmood, Sarmad ; Harlalka, Gaurav V. ; Dad, Rubina...
Gene Reports. 16 (2019) - p. 100445 , 2019

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

13

MNS1 variant associated with situs inversus and male infert..:

Leslie, Joseph S. ; Rawlins, Lettie E. ; Chioza, Barry A....
European Journal of Human Genetics. 28 (2019) 1 - p. 50-55 , 2019

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

14

An Amish founder variant consolidates disruption of CEP55 a..:

Rawlins, Lettie E. ; Jones, Hannah ; Wenger, Olivia...
European Journal of Human Genetics. 27 (2019) 4 - p. 657-662 , 2019

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

15

Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R. ; Maroofian, Reza ; Salter, Claire G....
Genome Research. 29 (2019) 7 - p. 1057-1066 , 2019

Link: https://doi.org/10.1101/..