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European Journal of Human Genetics : EJHG
|
May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services
Stephanie Best, Zoe Fehlberg, Christopher Richards, et al.
International Journal of Cancer
|
December 10, 2002
BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk
Annika Auranen, Amanda B Spurdle, Xiaoqing Chen, et al.
Frontiers in Genetics
|
December 6, 2019
Comprehensive Assessment of <i>BARD1</i> Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
Logan C Walker, Vanessa Lilian Lattimore, Anders Kvist, et al.
Journal of Medical Genetics
|
April 24, 2010
A BRCA1 promoter variant (rs11655505) and breast cancer risk
Paolo Verderio, Sara Pizzamiglio, Melissa C Southey, et al.
American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
JCO Precision Oncology
|
September 2, 2025
Case-Control Study for 23 Cancer Types With Functional Analysis of <i>CHEK2</i>: Risk Estimation and Clinical Recommendations in East Asia
Yuri Takehara, Yoshiaki Usui, Lenka Stolařová, et al.
Human Mutation
|
September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
Rossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
Logan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Journal of the National Cancer Institute
|
April 3, 2024
TP53-associated early breast cancer: new observations from a large cohort
Renata L Sandoval, Michele Bottosso, Li Tianyu, et al.
Page
of 40
Search research articles
Search
Showing results (181-190 of 398) with videos related to
Sort By:
Page
of 40
European Journal of Human Genetics : EJHG
|
May 25, 2024
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services
Stephanie Best, Zoe Fehlberg, Christopher Richards, et al.
International Journal of Cancer
|
December 10, 2002
BRCA2 Arg372Hispolymorphism and epithelial ovarian cancer risk
Annika Auranen, Amanda B Spurdle, Xiaoqing Chen, et al.
Frontiers in Genetics
|
December 6, 2019
Comprehensive Assessment of <i>BARD1</i> Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
Logan C Walker, Vanessa Lilian Lattimore, Anders Kvist, et al.
Journal of Medical Genetics
|
April 24, 2010
A BRCA1 promoter variant (rs11655505) and breast cancer risk
Paolo Verderio, Sara Pizzamiglio, Melissa C Southey, et al.
American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
JCO Precision Oncology
|
September 2, 2025
Case-Control Study for 23 Cancer Types With Functional Analysis of <i>CHEK2</i>: Risk Estimation and Clinical Recommendations in East Asia
Yuri Takehara, Yoshiaki Usui, Lenka Stolařová, et al.
Human Mutation
|
September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
Rossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
Logan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Journal of the National Cancer Institute
|
April 3, 2024
TP53-associated early breast cancer: new observations from a large cohort
Renata L Sandoval, Michele Bottosso, Li Tianyu, et al.
Page
of 40