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Emma R. Woodward
Emma R. Woodward
Manchester Centre for Genomic Medicine
E-mail confirmado em mft.nhs.uk - Página inicial
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Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
SC Clifford, ME Cockman, AC Smallwood, DR Mole, ER Woodward, ...
Human molecular genetics 10 (10), 1029-1038, 2001
4572001
Germline SDHB mutations and familial renal cell carcinoma
C Ricketts, ER Woodward, P Killick, MR Morris, D Astuti, F Latif, ER Maher
Journal of the National Cancer Institute 100 (17), 1260-1262, 2008
4102008
Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
CJ Ricketts, JR Forman, E Rattenberry, N Bradshaw, F Lalloo, L Izatt, ...
Human mutation 31 (1), 41-51, 2010
4082010
Whole-genome sequencing of patients with rare diseases in a national health system
SJ Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL ...
Nature, 2020
3922020
Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations
A Moran, C O’hara, S Khan, L Shack, E Woodward, ER Maher, F Lalloo, ...
Familial cancer 11, 235-242, 2012
3552012
Germline SDHD mutation in familial phaeochromocytoma
D Astuti, F Douglas, TWJ Lennard, IA Aligianis, ER Woodward, ...
The Lancet 357 (9263), 1181-1182, 2001
3022001
Genotype-phenotype correlations in von Hippel-Lindau disease
MER Ong KR, Woodward ER, Killick P, Lim C, Macdonald F
Human mutation 28 (2), 143-9, 2007
2802007
Penetrance estimates for BRCA1 and BRCA2based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should …
DG Evans, A Shenton, E Woodward, F Lalloo, A Howell, ER Maher
BMC cancer 8, 1-9, 2008
2632008
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
ERNG Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita ...
European Journal Human Genetics, 2020
2152020
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
KA Andrews, DB Ascher, DEV Pires, DR Barnes, L Vialard, RT Casey, ...
Journal of medical genetics 55 (6), 384-394, 2018
2152018
Germline FH Mutations Presenting With Pheochromocytoma
GR Clark, M Sciacovelli, E Gaude, DM Walsh, G Kirby, MA Simpson, ...
The Journal of Clinical Endocrinology & Metabolism 99 (10), E2046-E2050, 2014
1802014
Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high‐risk and population risk women is ineffective
ER Woodward, HV Sleightholme, AM Considine, S Williamson, ...
BJOG: An International Journal of Obstetrics & Gynaecology 114 (12), 1500-1509, 2007
1592007
Genetic Predisposition to Phaeochromocytoma: Analysis of Candidate Genes GDNF, RET and VHL
ER Woodward, C Eng, R McMahon, R Voutilainen, NA Affara, BAJ Ponder, ...
Human Molecular Genetics 6 (7), 1051-1056, 1997
1541997
Association of mismatch repair mutation with age at cancer onset in Lynch syndrome: implications for stratified surveillance strategies
NAJ Ryan, J Morris, K Green, F Lalloo, ER Woodward, J Hill, EJ Crosbie, ...
JAMA oncology 3 (12), 1702-1706, 2017
1492017
Risk of breast cancer in male BRCA2 carriers
DGR Evans, I Susnerwala, J Dawson, E Woodward, ER Maher, F Lalloo
Journal of medical genetics 47 (10), 710-711, 2010
1462010
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
A Smith, A Moran, MC Boyd, M Bulman, A Shenton, L Smith, R Iddenden, ...
Journal of medical genetics 44 (1), 10-15, 2007
1302007
Parity and breast cancer risk among BRCA1 and BRCA2mutation carriers
AC Antoniou, A Shenton, ER Maher, E Watson, E Woodward, F Lalloo, ...
Breast Cancer Research 8, 1-6, 2006
1222006
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ...
Human mutation 40 (9), 1557-1578, 2019
1212019
A comprehensive next generation sequencing–based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma
E Rattenberry, L Vialard, A Yeung, H Bair, K McKay, M Jafri, N Canham, ...
The Journal of Clinical Endocrinology & Metabolism 98 (7), E1248-E1256, 2013
1092013
Von Hippel-Lindau disease and endocrine tumour susceptibility
ER Woodward, ER Maher
Endocrine-related cancer 13 (2), 415-425, 2006
1072006
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Artigos 1–20