E-LIB Suche - Ergebnisse für: Giess, Adam

1

Copy-number analysis from genome sequencing data of 11,754 ..:

Olinger, Eric ; Wilson, Ian J. ; Orr, Sarah...
Genetics in Medicine Open. 2 (2024) - p. 101834 , 2024

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

2

A Comparison of Structural Variant Calling from Short-Read ..:

Pei, Yang ; Tanguy, Melanie ; Giess, Adam...
Genes. 15 (2024) 7 - p. 925 , 2024

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

3

Widespread genomic influences on phenotype in Dravet syndro..:

Martins Custodio, Helena ; Clayton, Lisa M ; Bellampalli, Ravishankara...
Brain. 146 (2023) 9 - p. 3885-3897 , 2023

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

4

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, Matteo ; Ibáñez, Kristina ; Brown, Anna-Leigh...
Brain. 146 (2023) 7 - p. 2723-2729 , 2023

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

5

Long read sequencing characterises a novel structural varia..:

Oakley, Julia ; Hill, Martin ; Giess, Adam..
Journal of Translational Medicine. 21 (2023) 1 - p. , 2023

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

6

Rare variants in the sodium-dependent phosphate transporter..:

Sadeghi-Alavijeh, Omid ; Chan, Melanie M.Y. ; Moochhala, Shabbir H....
Kidney International. 104 (2023) 5 - p. 975-984 , 2023

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

7

Publisher Correction: Signatures of TOP1 transcription-asso..:

Reijns, Martin A. M. ; Parry, David A. ; Williams, Thomas C....
Nature. 605 (2022) 7910 - p. E7-E7 , 2022

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

8

Nuclear-embedded mitochondrial DNA sequences in 66,083 huma..:

Wei, Wei ; Schon, Katherine R. ; Elgar, Greg...
Nature. 611 (2022) 7934 - p. 105-114 , 2022

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

9

Signatures of TOP1 transcription-associated mutagenesis in ..:

Reijns, Martin A. M. ; Parry, David A. ; Williams, Thomas C....
Nature. 602 (2022) 7898 - p. 623-631 , 2022

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

10

Spectrum of mutational signatures in T-cell lymphoma reveal..:

Jones, Christine L. ; Degasperi, Andrea ; Grandi, Vieri...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

11

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
Brain. 144 (2021) 2 - p. 584-600 , 2021

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

12

Evaluating the performance of a clinical genome sequencing ..:

Hyder, Zerin ; Calpena, Eduardo ; Pei, Yang...
Genetics in Medicine. 23 (2021) 12 - p. 2360-2368 , 2021

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

13

Profiling of Small Ribosomal Subunits Reveals Modes and Reg..:

Giess, Adam ; Torres Cleuren, Yamila N. ; Tjeldnes, Håkon...
Cell Reports. 31 (2020) 3 - p. 107534 , 2020

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

14

REPARATION: ribosome profiling assisted (re-)annotation of ..:

Ndah, Elvis ; Jonckheere, Veronique ; Giess, Adam...
Nucleic Acids Research. 45 (2017) 20 - p. e168-e168 , 2017

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

15

Ribosome signatures aid bacterial translation initiation si..:

Giess, Adam ; Jonckheere, Veronique ; Ndah, Elvis...
BMC Biology. 15 (2017) 1 - p. , 2017

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