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Biorxiv : the Preprint Server for Biology|November 28, 2024
In vivo Treatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base EditorChristiano R R Alves, Sabyasachi Das, Vijai Krishnan, et al.
Nature Biomedical Engineering|September 11, 2025
Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in miceChristiano R R Alves, Sabyasachi Das, Vijai Krishnan, et al.
The British Journal of Dermatology|September 20, 2011
Clinical characteristics and risk of melanoma development from giant congenital melanocytic naevi in Korea: a nationwide retrospective studyS J Yun, O S Kwon, J H Han, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
The Laryngoscope|March 29, 2025
Olfaction, Eating Preference, and Quality of Life in Cystic Fibrosis Chronic RhinosinusitisChristine M Liu, Jakob L Fischer, Michelle J Lee, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
Nature Communications|July 8, 2021
Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escapeJeff P Bruce, Ka-Fai To, Vivian W Y Lui, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
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