E-LIB Suche - Ergebnisse für: Breuss, Martin W.

1

Mapping recurrent mosaic copy number variation in human neu..:

Sun, Chen ; Kathuria, Kunal ; Emery, Sarah B....
Nature Communications. 15 (2024) 1 - p. , 2024

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

2

Cell-type-resolved mosaicism reveals clonal dynamics of the..:

Chung, Changuk ; Yang, Xiaoxu ; Hevner, Robert F....
Nature. 629 (2024) 8011 - p. 384-392 , 2024

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

3

Genomic Mosaicism of the Brain: Origin, Impact, and Utility:

Graham, Jared H. ; Schlachetzki, Johannes C. M. ; Yang, Xiaoxu.
Neuroscience Bulletin. 40 (2023) 6 - p. 759-776 , 2023

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

4

Comprehensive multi-omic profiling of somatic mutations in ..:

Chung, Changuk ; Yang, Xiaoxu ; Bae, Taejeong...
Nature Genetics. 55 (2023) 2 - p. 209-220 , 2023

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

5

Control-independent mosaic single nucleotide variant detect..:

Yang, Xiaoxu ; Xu, Xin ; Breuss, Martin W....
Nature Biotechnology. , 2023

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

6

Somatic mosaicism reveals clonal distributions of neocortic..:

Breuss, Martin W. ; Yang, Xiaoxu ; Schlachetzki, Johannes C. M....
Nature. 604 (2022) 7907 - p. 689-696 , 2022

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

7

Unbiased mosaic variant assessment in sperm: a cohort study..:

Yang, Xiaoxu ; Breuss, Martin W ; Stanley, Valentina...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

8

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron. 109 (2021) 2 - p. 241-256.e9 , 2021

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

9

Sperm mosaicism: implications for genomic diversity and dis..:

Breuss, Martin W. ; Yang, Xiaoxu ; Gleeson, Joseph G.
Trends in Genetics. 37 (2021) 10 - p. 890-902 , 2021

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

10

Developmental and temporal characteristics of clonal sperm ..:

Yang, Xiaoxu ; Breuss, Martin W. ; Xu, Xin...
Cell. 184 (2021) 18 - p. 4772-4783.e15 , 2021

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

11

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT r..:

Ghosh, Shereen G. ; Breuss, Martin W. ; Schlachetzki, Zinayida...
European Journal of Human Genetics. 29 (2021) 6 - p. 957-964 , 2021

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

12

A relatively common homozygous TRAPPC4 splicing variant is ..:

Ghosh, Shereen G. ; Scala, Marcello ; Beetz, Christian...
European Journal of Human Genetics. 29 (2020) 2 - p. 271-279 , 2020

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

13

mTOR pathway somatic variants and the molecular pathogenesi..:

Garcia, Camila A. B. ; Carvalho, Simone C. S. ; Yang, Xiaoxu...
Epilepsia Open. 5 (2020) 1 - p. 97-106 , 2020

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

14

The Evolution of the Mammalian ABCA6-like Genes: Analysis o..:

Breuss, Martin W ; Mamerto, Allen ; Renner, Tanya..
Genome Biology and Evolution. 12 (2020) 11 - p. 2093-2106 , 2020

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

15

Biallelic loss of human CTNNA2, encoding αN-catenin, leads ..:

Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay...
Nature Genetics. 50 (2018) 8 - p. 1093-1101 , 2018

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