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PubPharm (37)
1
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
enthalten in:
Journal of medical genetics
| 2024
von
Innella, G.
|
Ferrari, S.
|
Miccoli, S.
| +5
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2
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines
enthalten in:
Human molecular genetics
| 2024
von
Fortuno, C.
|
Michailidou, K.
|
Parsons, M.
| +13
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3
TP53-associated early breast cancer : new observations from a large cohort
enthalten in:
Journal of the National Cancer Institute
| 2024
von
Sandoval, R.
|
Bottosso, M.
|
Tianyu, L.
| +15
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4
Cancer Risks Associated With TP53 Pathogenic Variants : Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
enthalten in:
JCO precision oncology
| 2024
von
Fortuno, C.
|
Feng, B.
|
Carroll, C.
| +25
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5
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
enthalten in:
bioRxiv.org
| 2024
von
Parsons, M.
|
de la Hoya, M.
|
Richardson, M.
| +40
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6
CHEK2 is not a Li-Fraumeni syndrome gene : time to update public resources
enthalten in:
Journal of medical genetics
| 2023
von
Fortuno, C.
|
Richardson, M.
|
Pesaran, T.
| +4
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7
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study
enthalten in:
Genome medicine
| 2023
von
Davidson, A.
|
Dressel, U.
|
Norris, S.
| +48
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8
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
enthalten in:
Genome medicine
| 2023
von
Davidson, A.
|
Dressel, U.
|
Norris, S.
| +48
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9
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
enthalten in:
Genome medicine
| 2023
von
Davidson, A.
|
Dressel, U.
|
Norris, S.
| +48
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10
Shariant platform : Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
enthalten in:
American journal of human genetics
| 2022
von
Tudini, E.
|
Andrews, J.
|
Lawrence, D.
| +101
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Human mutation
7
Genome medicine
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Journal of assisted reproduction and genetics
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bioRxiv.org
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Genetics in medicine : official journal of the ...
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Human molecular genetics
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JCO precision oncology
1
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The New England journal of medicine
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Thema
22
Journal Article
16
Research Support, Non-U.S. Gov't
12
Tumor Suppressor Protein p53
11
TP53 protein, human
9
TP53
5
variant classification
4
ACMG
4
Breast cancer
4
Genetic epidemiology
4
Genetics
4
Missense variants
4
Review
4
Risk prediction
3
Candidate genes
3
Diagnostic testing
3
Familial cancer
3
Genetic factors
3
Health economics
3
Multicenter Study
3
Ovarian reserve
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Erscheinungszeitraum
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2020-
9
2010-2019
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