E-LIB Suche - Ergebnisse für: Yost, Shawn

1

Chromosomal instability by mutations in the novel minor spl..:

de Wolf, Bas ; Oghabian, Ali ; Akinyi, Maureen V...
The EMBO Journal. 40 (2021) 14 - p. , 2021

Link: https://doi.org/10.15252..

2

Insights into BRCA Cancer Predisposition from Integrated Ge..:

Yost, Shawn ; Ruark, Elise ; Alexandrov, Ludmil B.
JNCI Cancer Spectrum. 3 (2019) 2 - p. , 2019

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

3

Identification of new Wilms tumour predisposition genes: an..:

Mahamdallie, Shazia ; Yost, Shawn ; Poyastro-Pearson, Emma...
The Lancet Child & Adolescent Health. 3 (2019) 5 - p. 322-331 , 2019

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

4

Mutations in topoisomerase IIβ result in a B cell immunodef..:

Broderick, Lori ; Yost, Shawn ; Li, Dong...
Nature Communications. 10 (2019) 1 - p. , 2019

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

5

The Quality Sequencing Minimum (QSM): providing comprehensi..:

Mahamdallie, Shazia ; Ruark, Elise ; Yost, Shawn...
Wellcome Open Research. 3 (2018) - p. 37 , 2018

Link: https://doi.org/10.12688..

6

ICR142 Benchmarker: evaluating, optimising and benchmarking..:

Ruark, Elise ; Holt, Esty ; Renwick, Anthony...
Wellcome Open Research. 3 (2018) - p. 108 , 2018

Link: https://doi.org/10.12688..

7

CoverView: a sequence quality evaluation tool for next gene..:

Münz, Márton ; Mahamdallie, Shazia ; Yost, Shawn...
Wellcome Open Research. 3 (2018) - p. 36 , 2018

Link: https://doi.org/10.12688..

8

ICR142 Benchmarker: evaluating, optimising and benchmarking..:

Ruark, Elise ; Holt, Esty ; Renwick, Anthony...
Wellcome Open Research. 3 (2018) - p. 108 , 2018

Link: https://doi.org/10.12688..

9

Clinical Annotation Reference Templates: a resource for con..:

Yost, Shawn ; Münz, Márton ; Mahamdallie, Shazia...
Wellcome Open Research. 3 (2018) - p. 146 , 2018

Link: https://doi.org/10.12688..

10

The ICR96 exon CNV validation series: a resource for orthog..:

Mahamdallie, Shazia ; Ruark, Elise ; Yost, Shawn...
Wellcome Open Research. 2 (2017) - p. 35 , 2017

Link: https://doi.org/10.12688..

11

Biallelic TRIP13 mutations predispose to Wilms tumor and ch..:

Yost, Shawn ; de Wolf, Bas ; Hanks, Sandra...
Nature Genetics. 49 (2017) 7 - p. 1148-1151 , 2017

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

12

Mutations in Epigenetic Regulation Genes Are a Major Cause ..:

Tatton-Brown, Katrina ; Loveday, Chey ; Yost, Shawn...
The American Journal of Human Genetics. 100 (2017) 5 - p. 725-736 , 2017

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

13

Erratum: Corrigendum: Mutations in the transcriptional repr..:

Mahamdallie, Shazia S ; Hanks, Sandra ; Karlin, Kristen L...
Nature Genetics. 48 (2016) 4 - p. 473-473 , 2016

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

14

Whole-exome sequencing reveals the mutational spectrum of t..:

Litchfield, Kevin ; Summersgill, Brenda ; Yost, Shawn...
Nature Communications. 6 (2015) 1 - p. , 2015

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

15

Mutational Profiling Can Establish Clonal or Independent Or..:

Bao, Lei ; Messer, Karen ; Schwab, Richard...
PLOS ONE. 10 (2015) 11 - p. e0142487 , 2015

Link: https://doi.org/10.1371/..