E-LIB Suche - Ergebnisse für: Hanks, Sandra

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

2

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/..

3

Correction: Germline mutations in the oncogene EZH2 cause W..:

Tatton-Brown, Katrina ; Hanks, Sandra ; Ruark, Elise...
Oncotarget. 9 (2018) 94 - p. 36719-36719 , 2018

Link: https://doi.org/10.18632..

4

The ICR142 NGS validation series: a resource for orthogonal..:

Ruark, Elise ; Renwick, Anthony ; Clarke, Matthew...
F1000Research. 5 (2018) - p. 386 , 2018

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

5

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/..

6

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/..

7

The ICR142 NGS validation series: a resource for orthogonal..:

Ruark, Elise ; Renwick, Anthony ; Clarke, Matthew...
F1000Research. 5 (2016) - p. 386 , 2016

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

8

The ICR1000 UK exome series: a resource of gene variation i..:

Ruark, Elise ; Münz, Márton ; Renwick, Anthony...
F1000Research. 4 (2015) - p. 883 , 2015

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

9

Mutations in the transcriptional repressor REST predispose ..:

Mahamdallie, Shazia S ; Hanks, Sandra ; Karlin, Kristen L...
Nature Genetics. 47 (2015) 12 - p. 1471-1474 , 2015

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

10

Germline mutations in the PAF1 complex gene CTR9 predispose..:

Hanks, Sandra ; Perdeaux, Elizabeth R. ; Seal, Sheila...
Nature Communications. 5 (2014) 1 - p. , 2014

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

11

Mutations in the DNA methyltransferase gene DNMT3A cause an..:

Childhood Overgrowth Consortium ; Tatton-Brown, Katrina ; Seal, Sheila...
Nature Genetics. 46 (2014) 4 - p. 385-388 , 2014

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

12

Erratum: Corrigendum: Mutations in the DNA methyltransferas..:

Childhood Overgrowth Consortium ; Tatton-Brown, Katrina ; Seal, Sheila...
Nature Genetics. 46 (2014) 6 - p. 657-657 , 2014

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

13

Erratum: A genome-wide association study identifies suscept..:

Turnbull, Clare ; Perdeaux, Elizabeth R ; Pernet, David...
Nature Genetics. 45 (2013) 8 - p. 962-962 , 2013

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

14

Weaver syndrome and EZH2 mutations: Clarifying the clinical..:

Tatton‐Brown, Katrina ; Murray, Anne ; Hanks, Sandra...
American Journal of Medical Genetics Part A. 161 (2013) 12 - p. 2972-2980 , 2013

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

15

Predisposition gene identification in common cancers by exo..:

Snape, Katie ; Ruark, Elise ; Tarpey, Patrick...
Breast Cancer Research and Treatment. 134 (2012) 1 - p. 429-433 , 2012

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