E-LIB Suche - Ergebnisse für: Hubbard, T J P

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

Mutation-Attention (MuAt): deep representation learning of ..:

Sanjaya, Prima ; Maljanen, Katri ; Katainen, Riku...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

3

Repeat expansions in NOP56 are a cause of spinocerebellar a..:

Lam, Tanya ; Rocca, Clarissa ; Ibanez, Kristina...
Brain Communications. 5 (2023) 5 - p. , 2023

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

4

A genotype-to-phenotype approach suggests under-reporting o..:

Leggatt, Gary ; Cheng, Guo ; Narain, Sumit...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

5

Age and Sex Differences in the Genetics of Cardiomyopathy:

Akinrinade, Oyediran ; Lesurf, Robert ; Ambrose, J. C....
Journal of Cardiovascular Translational Research. 16 (2023) 6 - p. 1287-1302 , 2023

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

6

A novel likely pathogenic CLCN5 variant in Dent's disease:

Hayward, S ; Norton, J ; Bownass, L...
BMC Nephrology. 24 (2023) 1 - p. , 2023

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

7

Assessing the digenic model in rare disorders using populat..:

Moreno-Ruiz, Nerea ; Ambrose, J. C. ; Arumugam, P....
European Journal of Human Genetics. 30 (2022) 12 - p. 1439-1443 , 2022

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

8

Biallelic variants in coenzyme Q10 biosynthesis pathway gen..:

Jurkute, Neringa ; Cancellieri, Francesca ; Pohl, Lisa...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

9

Identification of 4 novel human ocular coloboma genes ANK3,..:

Owen, Nicholas ; Toms, Maria ; Young, Rodrigo M....
Genetics in Medicine. 24 (2022) 5 - p. 1073-1084 , 2022

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

10

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/..

11

The NHS England 100,000 Genomes Project: feasibility and ut..:

Trotman, Jamie ; Armstrong, Ruth ; Firth, Helen...
British Journal of Cancer. 127 (2022) 1 - p. 137-144 , 2022

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

12

Specialist multidisciplinary input maximises rare disease d..:

Macken, William L. ; Falabella, Micol ; McKittrick, Caroline...
Nature Communications. 13 (2022) 1 - p. , 2022

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

13

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an ..:

McGuigan, Anthony ; Whitworth, James ; Andreou, Avgi...
European Journal of Human Genetics. 30 (2022) 3 - p. 265-270 , 2022

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

14

Application of ensemble clustering and survival tree analys..:

Wei, Yuguo ; Papachristou, Nikolaos ; Mueller, Stefanie...
BMC Research Notes. 14 (2021) 1 - p. , 2021

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

15

Heterozygous lamin B1 and lamin B2 variants cause primary m..:

Parry, David A. ; Martin, Carol-Anne ; Greene, Philip...
Genetics in Medicine. 23 (2021) 2 - p. 408-414 , 2021

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