De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

Life Sciences, Genetics, Human Development +10

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

Alysson R. Muotri, Vi Chu, Maria C. Marchetto et al. · Nature · 2005 · 952 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development

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Life Sciences, Genetics, Immunology +17

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Aziz Bousfiha, Leïla Jeddane, Capucine Pïcard et al. · Journal of Clinical Immunology · 2020 · 691 citations · Full text

Life Sciences, Genetics, Immunology +12

LINE-1 Retrotransposition Activity in Human Genomes

Christine R. Beck, Pamela Collier, Catriona Macfarlane et al. · Cell · 2010 · 649 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7