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American Journal of Human Genetics|August 14, 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelMichael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.
Cancer Research|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51CChunling Hu, Anil Belur Nagaraj, Hermela Shimelis, et al.
British Journal of Neurosurgery|September 2, 2021
Neurosurgery activity levels in the United Kingdom and republic of Ireland during the first wave of the covid-19 pandemic - a retrospective cross-sectional cohort studyGeorge E Richardson, Abdurrahman I Islim, Erminia Albanese, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology|April 27, 2025
Association of gene variant type and location with breast cancer risk in the general populationM P Akamandisa, N J Boddicker, S Yadav, et al.
Acta Neuropathologica|May 25, 2026
Neocortical tau burden determines the degree of cognitive impairment in individuals with Braak stage V neurofibrillary degenerationTimothy E Richardson, Jonathan Cherry, Shrishtee Kandoi, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Association of Gene Variant Type and Location with Breast Cancer Risk in the General PopulationMwangala P Akamandisa, Nicholas J Boddicker, Siddhartha Yadav, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Nucleic Acids Research|December 19, 2003
The Mouse Genome Database (MGD): integrating biology with the genomeCarol J Bult, Judith A Blake, Joel E Richardson, et al.
Nucleic Acids Research|December 21, 2004
The Mouse Genome Database (MGD): from genes to mice--a community resource for mouse biologyJanan T Eppig, Carol J Bult, James A Kadin, et al.
Physical Review Letters|June 29, 2006
System size and centrality dependence of charged hadron transverse momentum spectra in Au + Au and Cu + Cu collisions at square root of SNN = 62.4 and 200 GeVB Alver, B B Back, M D Baker, et al.
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