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Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.Human Molecular Genetics|June 19, 2015
AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemiaElizabeth L Virts, Anna Jankowska, Craig Mackay, et al.Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.Breast Cancer Research and Treatment|August 17, 2023
Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypesLauren Lenz, Chris Neff, Cara Solimeno, et al.International Journal of Cancer|October 25, 2013
Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variantsVanya D Peltekova, Mathieu Lemire, Aamer M Qazi, et al.American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|December 31, 2017
Genomics-Driven Precision Medicine for Advanced Pancreatic Cancer: Early Results from the COMPASS TrialKyaw L Aung, Sandra E Fischer, Robert E Denroche, et al.Journal of the National Cancer Institute|May 16, 2020
BRCA1 Promoter Methylation and Clinical Outcomes in Ovarian Cancer: An Individual Patient Data Meta-AnalysisRoshni D Kalachand, Britta Stordal, Stephen Madden, et al.Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.Nature Medicine|May 2, 2018
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT TrialAndrew Tutt, Holly Tovey, Maggie Chon U Cheang, et al.Pageof 140