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George J. Burghel
127  Ergebnisse:
Personensuche X
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1

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/..
 
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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/..
 
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3

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/..
 
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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/..
 
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5

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/..
 
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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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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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/..
 
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15

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/..
 
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