Sandra Hanks
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Explore the profile of Sandra Hanks including associated specialties, affiliations and a list of published articles.
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31
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2409
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Recent Articles
11.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, et al.
Am J Med Genet A
. 2013 Nov;
161A(12):2972-80.
PMID: 24214728
Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to...
12.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, et al.
Nature
. 2012 Dec;
493(7432):406-10.
PMID: 23242139
Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and...
13.
Turnbull C, Perdeaux E, Pernet D, Naranjo A, Renwick A, Seal S, et al.
Nat Genet
. 2012 May;
44(6):681-4.
PMID: 22544364
Wilms tumor is the most common renal malignancy of childhood. To identify common variants that confer susceptibility to Wilms tumor, we conducted a genome-wide association study in 757 individuals with...
14.
Snape K, Ruark E, Tarpey P, Renwick A, Turnbull C, Seal S, et al.
Breast Cancer Res Treat
. 2012 Apr;
134(1):429-33.
PMID: 22527104
The genetic component of breast cancer predisposition remains largely unexplained. Candidate gene case-control resequencing has identified predisposition genes characterised by rare, protein truncating mutations that confer moderate risks of disease....
15.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Del Vecchio Duarte S, Ramsay E, et al.
Oncotarget
. 2011 Dec;
2(12):1127-33.
PMID: 22190405
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which...
16.
Snape K, Hanks S, Ruark E, Barros-NuneZ P, Elliott A, Murray A, et al.
Nat Genet
. 2011 May;
43(6):527-9.
PMID: 21552266
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal...
17.
Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, et al.
J Med Genet
. 2011 Jan;
48(4):273-8.
PMID: 21266384
Background: Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). Aim: To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. Methods...
18.
Slade I, Murray A, Hanks S, Kumar A, Walker L, Hargrave D, et al.
Fam Cancer
. 2010 Dec;
10(2):337-42.
PMID: 21188540
PTCH1 and SUFU are both regulators of the sonic hedgehog signalling pathway. Germline inactivating mutations in both genes are associated with multisystem phenotypes including medulloblastoma. Somatic inactivating mutations in PTCH1...
19.
Gisselsson D, Jin Y, Lindgren D, Persson J, Gisselsson L, Hanks S, et al.
Proc Natl Acad Sci U S A
. 2010 Nov;
107(47):20489-93.
PMID: 21059955
One extra chromosome copy (i.e., trisomy) is the most common type of chromosome aberration in cancer cells. The mechanisms behind the generation of trisomies in tumor cells are largely unknown,...
20.
Suijkerbuijk S, van Osch M, Bos F, Hanks S, Rahman N, Kops G
Cancer Res
. 2010 Jun;
70(12):4891-900.
PMID: 20516114
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...