E-LIB Suche - Ergebnisse für: Genomics England Research Consortium

1

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

Author Correction: Multi-omics analysis in human retina unc..:

Lopez Soriano, Victor ; Dueñas Rey, Alfredo ; Mukherjee, Rajarshi...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Increasing the diagnostic yield of childhood glaucoma cases..:

Al-Saei, Omayma ; Malka, Samantha ; Owen, Nicholas...
BMC Genomics. 25 (2024) 1 - p. , 2024

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

4

Medullary Sponge Kidney and Its Relationship with Primary D..:

van den Berg, Gerrit ; Claus, Laura R. ; van der Zwaag, Bert...
Nephron. , 2024

Link: https://doi.org/10.1159/..

5

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion ..:

Chen, Zhongbo ; Gustavsson, Emil K. ; Macpherson, Hannah...
Movement Disorders. 39 (2024) 3 - p. 486-497 , 2024

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

6

Multi-omics analysis in human retina uncovers ultraconserve..:

Lopez Soriano, Victor ; Dueñas Rey, Alfredo ; Mukherjee, Rajarshi...
Nature Communications. 15 (2024) 1 - p. , 2024

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

7

Challenging our understanding of B‐cell lymphomagenesis and..:

Hare, Lucy ; Trotman, Jamie ; Tarpey, Patrick...
Pediatric Blood & Cancer. 71 (2023) 3 - p. , 2023

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

8

KidneyNetwork: using kidney-derived gene expression data to..:

Boulogne, Floranne ; Claus, Laura R. ; Wiersma, Henry...
European Journal of Human Genetics. 31 (2023) 11 - p. 1300-1308 , 2023

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

9

FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leuk..:

May, Philippa C. ; Reid, Alistair G. ; Robinson, Mark E....
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

10

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism..:

Reid, Kimberley M. ; Steel, Dora ; Nair, Sanjana...
Cells. 12 (2023) 7 - p. 1046 , 2023

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

11

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
Journal of Medical Genetics. 60 (2023) 8 - p. 810-818 , 2023

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

12

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/..

13

Locus conversions are rare in the LRFN5 locus:

Sampson, Jacob ; Houge, Gunnar ; Banka, Siddharth.
Autism Research. 16 (2023) 6 - p. 1084-1085 , 2023

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

14

MEK 1 inhibition and bleeding in hereditary haemorrhagic te..:

Shovlin, Claire L. ; Patel, Dilip ; Bielowka, Adrianna...
British Journal of Haematology. 204 (2023) 1 - p. 361-365 , 2023

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

15

A non-coding insertional mutation of Grhl2 causes gene over..:

Crane-Smith, Zoe ; De Castro, Sandra C P ; Nikolopoulou, Evanthia...
Human Molecular Genetics. 32 (2023) 17 - p. 2681-2692 , 2023

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