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PubPharm (90)
1
Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria
enthalten in:
bioRxiv.org
| 2024
von
Pejaver, V.
|
Byrne, A.
|
Feng, B.
| +10
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2
Measuring Psoriasis Severity at Home
enthalten in:
Journal of visualized experiments : JoVE
| 2024
von
Carroll, C.
|
Aðalsteinsson, J.
|
Prouty, M.
| +4
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3
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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4
PAPRIKA : A Question Bank for Assessing Psoriatic Arthritis Risk in Individuals of Diverse Ancestries
enthalten in:
Arthritis care & research
| 2024
von
Walsh, J.
|
Carroll, C.
|
Callis Duffin, K.
| +3
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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
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
enthalten in:
Human mutation
| 2022
von
Thomassen, M.
|
Mesman, R.
|
Hansen, T.
| +47
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7
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
enthalten in:
American journal of human genetics
| 2022
von
Pejaver, V.
|
Byrne, A.
|
Feng, B.
| +30
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8
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
enthalten in:
Cancers
| 2022
von
Dumont, M.
|
Weber-Lassalle, N.
|
Joly-Beauparlant, C.
| +77
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9
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points‐based ACMG/AMP approach
enthalten in:
Human mutation
| 2022
von
Thomassen, M.
|
Mesman, R.
|
Hansen, T.
| +46
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10
Psoriasis Characteristics for the Early Detection of Psoriatic Arthritis
enthalten in:
The Journal of rheumatology
| 2021
von
Belman, S.
|
Walsh, J.
|
Carroll, C.
| +5
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variant interpretation
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