Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Sandra Hanks"'
Autor:
Elise Ruark, Anthony Renwick, Matthew Clarke, Katie Snape, Emma Ramsay, Anna Elliott, Sandra Hanks, Ann Strydom, Sheila Seal, Nazneen Rahman
Publikováno v:
F1000Research, Vol 5 (2018)
To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 704 s
Externí odkaz:
https://doaj.org/article/1463d4af0f4148db92505f1d746737c2
Autor:
Elise Ruark, Anthony Renwick, Matthew Clarke, Katie Snape, Emma Ramsay, Anna Elliott, Sandra Hanks, Ann Strydom, Sheila Seal, Nazneen Rahman
Publikováno v:
F1000Research, Vol 5 (2016)
To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 730 s
Externí odkaz:
https://doaj.org/article/821aaa46b9d641ab8cd17f090df78dcc
Autor:
Elise Ruark, Márton Münz, Anthony Renwick, Matthew Clarke, Emma Ramsay, Sandra Hanks, Shazia Mahamdallie, Anna Elliott, Sheila Seal, Ann Strydom, Lunter Gerton, Nazneen Rahman
Publikováno v:
F1000Research, Vol 4 (2015)
To enhance knowledge of gene variation in outbred populations, and to provide a dataset with utility in research and clinical genomics, we performed exome sequencing of 1,000 UK individuals from the general population and applied a high-quality analy
Externí odkaz:
https://doaj.org/article/39ea75c11ec3497ab2d36b424570f670
Autor:
Geert J.P.L. Kops, Nazneen Rahman, Sandra Hanks, Frank L. Bos, Maria H.J. van Osch, Saskia J.E. Suijkerbuijk
Supplementary Figures 1-5, Table 1 from Molecular Causes for BUBR1 Dysfunction in the Human Cancer Predisposition Syndrome Mosaic Variegated Aneuploidy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e897a1e0c8d5a6c62cfee238d2b85e6
https://doi.org/10.1158/0008-5472.22382025.v1
https://doi.org/10.1158/0008-5472.22382025.v1
Autor:
Geert J.P.L. Kops, Nazneen Rahman, Sandra Hanks, Frank L. Bos, Maria H.J. van Osch, Saskia J.E. Suijkerbuijk
Genetic mutations in the mitotic regulatory kinase BUBR1 are associated with the cancer-susceptible disorder mosaic variegated aneuploidy (MVA). In patients with biallelic mutations, a missense mutation pairs with a truncating mutation. Here, we show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c481b3ee1a6293a4df9fe0fd45e4fbd7
https://doi.org/10.1158/0008-5472.c.6500073.v1
https://doi.org/10.1158/0008-5472.c.6500073.v1
Autor:
Seth Salpeter, Vered Bar, Guy Neev, Adi Zundelevich, Gil Rosen, Sandra Hanks, Naoise Costelloe, Jonathan Krell, Ravid Straussman
Publikováno v:
Cancer Research. 83:4347-4347
Precision cancer therapy has the potential to revolutionize treatment outcome. While genomic analysis has become central to cancer personalized medicine, recent studies have not shown that it drastically improves the patient’s survival as compared
Autor:
Marijke P. Baltissen, Sandra Hanks, Eelco C. Tromer, Shawn Yost, Bas de Wolf, Geert J.P.L. Kops, Michiel Vermeulen, Philippe Piloquet, Bertrand Isidor, Ali Oghabian, Jolien J. E. van Hooff, Berend Snel, Esther C.H. Uijttewaal, Nazneen Rahman, Jens Verbeeren, Laura E van Rooijen, Lisa van Voorthuijsen, Maureen V. Akinyi, Mikko J. Frilander
Publikováno v:
EMBO Journal
EMBO Journal, 40(14), 1. Nature Publishing Group
EMBO Journal, 40(14). Nature Publishing Group
The EMBO Journal
EMBO Journal, 40(14), 1. Nature Publishing Group
EMBO Journal, 40(14). Nature Publishing Group
The EMBO Journal
Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d7b40146969ea51a965e5d52d5c292
https://dspace.library.uu.nl/handle/1874/414082
https://dspace.library.uu.nl/handle/1874/414082
Autor:
Anna Zachariou, Esther Uijttewaal, Shawn Yost, Richarda M. de Voer, Susan Picton, Bas de Wolf, Anna Elliott, Chiara Marcozzi, Sarah F. Smithson, Gunnar Houge, Elise Ruark, Sandra Hanks, Emma Ramsay, Harriet Wylie, Jonathon Pines, Sheila Seal, Nazneen Rahman, Matthew Clarke, Banafsheh Etemad, Geert J. P. L. Kops, Audrey Smith
Publikováno v:
Nature Genetics, 49, 7, pp. 1148-1151
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosa
Autor:
Shazia, Mahamdallie, Shawn, Yost, Emma, Poyastro-Pearson, Esty, Holt, Anna, Zachariou, Sheila, Seal, Anna, Elliott, Matthew, Clarke, Margaret, Warren-Perry, Sandra, Hanks, John, Anderson, Simon, Bomken, Trevor, Cole, Roula, Farah, Rhoikos, Furtwaengler, Adam, Glaser, Richard, Grundy, James, Hayden, Steve, Lowis, Frédéric, Millot, James, Nicholson, Milind, Ronghe, Jane, Skeen, Denise, Williams, Daniel, Yeomanson, Elise, Ruark, Nazneen, Rahman
BACKGROUND: Wilms tumour is the most common childhood renal cancer and is genetically heterogeneous. While several Wilms tumour predisposition genes have been identified, there is strong evidence that further predisposition genes are likely to exist.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cdb18334ee19befe259ca75a00843b82
https://europepmc.org/articles/PMC6472290/
https://europepmc.org/articles/PMC6472290/
Autor:
Thomas F. Westbrook, Gill Levitt, Anna Zachariou, Thomas W. McLean, Anthony Renwick, Kristen L. Karlin, Charles A. Stiller, Alexander Renwick, Emma Ramsay, Juliet C. Gray, Eamonn Sheridan, Elise Ruark, Shazia Mahamdallie, Neil J. Sebire, Shawn Yost, Chad A. Shaw, Juliet Hale, Sheila Seal, Elizabeth R Perdeaux, Sandra Hanks, Michael Capra, Anna Elliott, Judith E. Kingston, Nazneen Rahman, Jillian M. Birch
Publikováno v:
Nature Genetics. 47:1471-1474
Wilms tumor is the most common childhood renal cancer. To identify mutations that predispose to Wilms tumor, we are conducting exome sequencing studies. Here we describe 11 different inactivating mutations in the REST gene (encoding RE1-silencing tra