E-LIB Suche - Ergebnisse für: Wilson, Meredith

1

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. , 2024

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

2

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024

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

3

Integrated multi-omics for rapid rare disease diagnosis on ..:

Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V....
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023

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

4

Whole exome and genome sequencing in mendelian disorders: a..:

Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah...
European Journal of Human Genetics. 30 (2022) 10 - p. 1121-1131 , 2022

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

5

De novo putative loss‐of‐function variants inTAF4are associ..:

Janssen, Beau D. E. ; van den Boogaard, Marie‐Jose H. ; Lichtenbelt, Klaske...
Human Mutation. 43 (2022) 12 - p. 1844-1851 , 2022

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

6

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1472-1483 , 2022

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

7

A novel RLIM/RNF12 variant disrupts protein stability and f..:

Bustos, Francisco ; Espejo-Serrano, Carmen ; Segarra-Fas, Anna...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

8

Genome sequencing in families with congenital limb malforma..:

Elsner, Jonas ; Mensah, Martin A. ; Holtgrewe, Manuel...
Human Genetics. 140 (2021) 8 - p. 1229-1239 , 2021

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

9

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and C..:

Frith, Katie ; Munier, C. Mee Ling ; Hastings, Lucy...
International Journal of Molecular Sciences. 22 (2021) 10 - p. 5324 , 2021

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

10

Pathogenic variants in CDH11 impair cell adhesion and cause..:

Li, Dong ; March, Michael E. ; Fortugno, Paola...
Human Genetics. 140 (2021) 7 - p. 1061-1076 , 2021

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

11

Learning from scaling up ultra-rapid genomic testing for cr..:

Best, Stephanie ; Brown, Helen ; Lunke, Sebastian...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

12

Gene selection for the Australian Reproductive Genetic Carr..:

Kirk, Edwin P. ; Ong, Royston ; Boggs, Kirsten...
European Journal of Human Genetics. 29 (2020) 1 - p. 79-87 , 2020

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

13

The expandingLARS2phenotypic spectrum: HLASA, Perrault synd..:

Riley, Lisa G. ; Rudinger‐Thirion, Joëlle ; Frugier, Magali...
Human Mutation. 41 (2020) 8 - p. 1425-1434 , 2020

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

14

Revealing hidden genetic diagnoses in the ocular anterior s..:

Ma, Alan ; Yousoof, Saira ; Grigg, John R....
Genetics in Medicine. 22 (2020) 10 - p. 1623-1632 , 2020

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

15

Parental experiences of ultrarapid genomic testing for thei..:

Brett, Gemma R. ; Martyn, Melissa ; Lynch, Fiona...
Genetics in Medicine. 22 (2020) 12 - p. 1976-1985 , 2020

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