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Logan C Walker

Explore the profile of Logan C Walker including associated specialties, affiliations and a list of published articles. Areas
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Articles 52
Citations 779
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Recent Articles
1.
Stylianou C, Wiggins G, Lau V, Dennis J, Shelling A, Wilson M, et al.
Hum Genet . 2024 Nov; 143(12):1481-1498. PMID: 39495297
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown....
2.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
Am J Hum Genet . 2024 Sep; 111(11):2411-2426. PMID: 39317201
The ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology, and variant interpretation. This VCEP...
3.
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet . 2024 Aug; 111(9):2044-2058. PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
4.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
medRxiv . 2024 Jun; PMID: 38854136
The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology and variant interpretation. This VCEP...
5.
Walker L, de la Hoya M, Wiggins G, Lindy A, Vincent L, Parsons M, et al.
Am J Hum Genet . 2023 Jun; 110(7):1046-1067. PMID: 37352859
The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1, PS3,...
6.
Walker L, de la Hoya M, Wiggins G, Lindy A, Vincent L, Parsons M, et al.
medRxiv . 2023 Mar; PMID: 36865205
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of...
7.
Hakkaart C, Pearson J, Marquart L, Dennis J, Wiggins G, Barnes D, et al.
Commun Biol . 2022 Oct; 5(1):1061. PMID: 36203093
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis...
8.
Thomassen M, Mesman R, Hansen T, Menendez M, Rossing M, Esteban-Sanchez A, et al.
Hum Mutat . 2022 Aug; 43(12):1921-1944. PMID: 35979650
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess...
9.
Dennis J, Tyrer J, Walker L, Michailidou K, Dorling L, Bolla M, et al.
Commun Biol . 2022 Jan; 5(1):65. PMID: 35042965
Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs...
10.
Morley-Bunker A, Wiggins G, Currie M, Morrin H, Whitehead M, Eglinton T, et al.
Acta Histochem . 2021 Aug; 123(6):151765. PMID: 34364165
RNAscope®, has emerged as an important in-situ hybridisation method to validate mRNA expression within single cells whilst preserving tissue morphology in histological samples. The aim of this research was to...