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Nature Communications|November 12, 2015
Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasmaLeticia De Mattos-Arruda, Regina Mayor, Charlotte K Y Ng, et al.Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.Human Genetics|March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.Biorxiv : the Preprint Server for Biology|May 27, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.Pageof 8