Sophie Gad

Author PubWeight™ 23.65‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2011 3.53
2 PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 2008 2.56
3 Crypt-restricted proliferation and commitment to the Paneth cell lineage following Apc loss in the mouse intestine. Development 2005 2.56
4 Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013 1.69
5 Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002 1.66
6 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN. Clin Cancer Res 2008 1.17
7 A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining. Oncogene 2002 1.12
8 Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. BMC Med Genomics 2010 1.06
9 Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot. Am J Hum Genet 2002 1.05
10 The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues. BMC Genomics 2010 0.98
11 Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica 2011 0.92
12 Matrix metalloproteinase 3 polymorphism: a predictive factor of response to neoadjuvant chemotherapy in head and neck squamous cell carcinoma. Clin Cancer Res 2004 0.90
13 Von Hippel-Lindau: how a rare disease illuminates cancer biology. Semin Cancer Biol 2012 0.90
14 Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells. Am J Hematol 2008 0.82
15 BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations. Cancer Epidemiol Biomarkers Prev 2003 0.79
16 Telomere crisis in kidney epithelial cells promotes the acquisition of a microRNA signature retrieved in aggressive renal cell carcinomas. Carcinogenesis 2013 0.79
17 Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 2015 0.75
18 [Genetics and angiogenesis: the example of von Hippel-Lindau disease]. Bull Cancer 2007 0.75