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1 . Academic Journal
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management
저자
by
Giovanni Innella
;
Cristina Fortuno
;
Laura Caleca
;
Bing‐Jian Feng
;
Courtney Carroll
, et al.
소스
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
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7 . Academic Journal
P690: Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants
저자
by
Nitsan Rotenberg
;
Lobna Ramadane-Morchadi
;
Matthew Varga
;
Adam Chamberlin
;
Marcy Richardson
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101594- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
저자
by
Aimee L. Davidson
;
Uwe Dressel
;
Sarah Norris
;
Daffodil M. Canson
;
Dylan M. Glubb
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
저자
by
Leila Dorling
;
Sara Carvalho
;
Jamie Allen
;
Michael T. Parsons
;
Cristina Fortuno
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)
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7 .
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome
저자
by
Emily Rayner
;
Yvonne Tiersma
;
Cristina Fortuno
;
Sandrine van Hees‐Stuivenberg
;
Mark Drost
, et al.
소스
Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.
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7 .
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
저자
by
Emma Tudini
;
James Andrews
;
David M. Lawrence
;
Sarah L. King-Smith
;
Naomi Baker
, et al.
소스
Am J Hum Genet
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7 .
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing
저자
by
Jill S. Dolinsky
;
Jessica L. Mester
;
Paul A. James
;
Tina Pesaran
;
Amal Yussuf
, et al.
소스
Cancer Genetics
. :11-17
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7 .
Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria
저자
by
Paul A. James
;
Cristina Fortuno
;
Na Li
;
Belle W. X. Lim
;
Ian G. Campbell
, et al.
소스
Human mutationREFERENCES
. 43(7)
Scopus
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7 .
Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53
저자
by
David E. Goldgar
;
Paul A. James
;
Amal Yussuf
;
Cristina Fortuno
;
Jill S. Dolinsky
, et al.
소스
Human Mutation
. 41:537-542
Open Access (OpenAIRE)
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7 .
Functional assay-based classification of PMS2 variants in Lynch Syndrome
저자
by
Emily Rayner
;
Yvonne Tiersma
;
Cristina Fortuno
;
Sandrine van Hees-Stuivenberg
;
Mark Drost
, et al.
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