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Burghel, George J
127
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Online (127)
Mediatypes
Articles (Online) (38)
OpenAccess-fulltext (89)
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1
Cascade screening in HBOC and Lynch syndrome: guidelines an..:
Evans, D. Gareth
;
Green, Kate
;
Burghel, George J.
...
Familial Cancer. 23 (2024) 2 - p. 187-195 , 2024
Link:
https://doi.org/10.1007/..
?
2
EMQN best practice guidelines for genetic testing in heredi..:
McDevitt, Trudi
;
Durkie, Miranda
;
Arnold, Norbert
...
European Journal of Human Genetics. 32 (2024) 5 - p. 479-488 , 2024
Link:
https://doi.org/10.1038/..
?
3
A randomised phase 2 study of intermittent versus continuou..:
Dayimu, Alimu
;
Gupta, Avinash
;
Matin, Rubeta N.
...
European Journal of Cancer. 196 (2024) - p. 113455 , 2024
Link:
https://doi.org/10.1016/..
?
4
Pathogenic variant detection rate varies considerably in ma..:
Evans, D Gareth
;
Burghel, George J
;
Howell, Sacha J
...
Journal of Medical Genetics. , 2024
Link:
https://doi.org/10.1136/..
?
5
Population-based germline testing of BRCA1, BRCA2, and PALB..:
Evans, D. Gareth
;
Woodward, Emma R.
;
Burghel, George J.
...
Genetics in Medicine Open. 2 (2024) - p. 100849 , 2024
Link:
https://doi.org/10.1016/..
?
6
Real-World Concordance between Germline and Tumour BRCA1/2 ..:
Morgan, Robert D.
;
Burghel, George J.
;
Schlecht, Helene
...
Cancers. 16 (2023) 1 - p. 177 , 2023
Link:
https://doi.org/10.3390/..
?
7
Recommendations for laboratory workflow that better support..:
Allen, Sophie
;
Loong, Lucy
;
Garrett, Alice
...
Journal of Medical Genetics. 61 (2023) 4 - p. 305-312 , 2023
Link:
https://doi.org/10.1136/..
?
8
Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagn..:
Morgan, Robert D.
;
Burghel, George J.
;
Flaum, Nicola
...
Cancers. 15 (2023) 3 - p. 730 , 2023
Link:
https://doi.org/10.3390/..
?
9
Reclassification of clinically-detected sequence variants: ..:
Loong, Lucy
;
Garrett, Alice
;
Allen, Sophie
...
Genetics in Medicine. 24 (2022) 9 - p. 1867-1877 , 2022
Link:
https://doi.org/10.1016/..
?
10
Quantifying prediction of pathogenicity for within-codon co..:
Loong, Lucy
;
Cubuk, Cankut
;
Choi, Subin
...
Genetics in Medicine. 24 (2022) 3 - p. 552-563 , 2022
Link:
https://doi.org/10.1016/..
?
11
Germline mismatch repair (MMR) gene analyses from English N..:
Loong, Lucy
;
Huntley, Catherine
;
McRonald, Fiona
...
Journal of Medical Genetics. 60 (2022) 7 - p. 669-678 , 2022
Link:
https://doi.org/10.1136/..
?
12
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour w..:
Morgan, Robert D.
;
Burghel, George J.
;
Flaum, Nicola
...
British Journal of Cancer. 127 (2022) 1 - p. 163-167 , 2022
Link:
https://doi.org/10.1038/..
?
13
Quantifying evidence toward pathogenicity for rare phenotyp..:
Garrett, Alice
;
Loveday, Chey
;
King, Laura
...
Genetics in Medicine. 24 (2022) 1 - p. 41-50 , 2022
Link:
https://doi.org/10.1016/..
?
14
Evaluation of the Clinical Utility of Genomic Profiling to ..:
Rack, Samuel
;
Feeney, Laura
;
Hapuarachi, Brindley
...
Cancers. 14 (2022) 5 - p. 1133 , 2022
Link:
https://doi.org/10.3390/..
?
15
ATP6V0C variants impair V-ATPase function causing a neurode..:
Mattison, Kari A
;
Tossing, Gilles
;
Mulroe, Fred
...
Brain. 146 (2022) 4 - p. 1357-1372 , 2022
Link:
https://doi.org/10.1093/..
1-15