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Amanda B Spurdle

Showing results (71-80 of 397) with videos related to

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Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.
Human Mutation|July 10, 2021
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancerSharon E Johnatty, Tina Pesaran, Jill Dolinsky, et al.
Human Mutation|April 22, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndromeEmily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.
Cancers|January 31, 2019
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 GenesLaura Caleca, Mara Colombo, Thomas van Overeem Hansen, et al.
Lancet (London, England)|October 2, 2002
Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian womenAmanda B Spurdle, John L Hopper, Xiaoqing Chen, et al.
Scientific Reports|August 19, 2020
ROR1 is upregulated in endometrial cancer and represents a novel therapeutic targetDongli Liu, Kate Gunther, Luis A Enriquez, et al.
Behavior Genetics|November 8, 2005
Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and femalesSarah E Medland, David L Duffy, Amanda B Spurdle, et al.
Bioinformatics (Oxford, England)|April 6, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletionDaffodil M Canson, Aimee L Davidson, Miguel de la Hoya, et al.
American Journal of Human Genetics|June 23, 2026
Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicitySimon Schnaiter, Frédéric R Santer, Katalin A Csanaky, et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 6, 2010
Kallikrein-related peptidase 10 (KLK10) expression and single nucleotide polymorphisms in ovarian cancer survivalJyotsna Batra, Olivia L Tan, Tracy O'Mara, et al.
Pageof 40

Showing results (71-80 of 397) with videos related to

Sort By:
Pageof 40
Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.
Human Mutation|July 10, 2021
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancerSharon E Johnatty, Tina Pesaran, Jill Dolinsky, et al.
Human Mutation|April 22, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndromeEmily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.
Cancers|January 31, 2019
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 GenesLaura Caleca, Mara Colombo, Thomas van Overeem Hansen, et al.
Lancet (London, England)|October 2, 2002
Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian womenAmanda B Spurdle, John L Hopper, Xiaoqing Chen, et al.
Scientific Reports|August 19, 2020
ROR1 is upregulated in endometrial cancer and represents a novel therapeutic targetDongli Liu, Kate Gunther, Luis A Enriquez, et al.
Behavior Genetics|November 8, 2005
Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and femalesSarah E Medland, David L Duffy, Amanda B Spurdle, et al.
Bioinformatics (Oxford, England)|April 6, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletionDaffodil M Canson, Aimee L Davidson, Miguel de la Hoya, et al.
American Journal of Human Genetics|June 23, 2026
Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicitySimon Schnaiter, Frédéric R Santer, Katalin A Csanaky, et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 6, 2010
Kallikrein-related peptidase 10 (KLK10) expression and single nucleotide polymorphisms in ovarian cancer survivalJyotsna Batra, Olivia L Tan, Tracy O'Mara, et al.
Pageof 40