Concepedia

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer,

Journal of Human Genetics · 2011 · 67 citations · 7 references

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Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

Gerton Lunter, Martin Goodson · Genome Research · 2010 · 1.1K citations · Full text

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A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

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Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

Teruyuki Tanaka, Finley Serneo, Christine Higgins et al. · The Journal of Cell Biology · 2004 · 423 citations · Full text

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Ndel1 Operates in a Common Pathway with LIS1 and Cytoplasmic Dynein to Regulate Cortical Neuronal Positioning

Tianzhi Shu, Ramsés Ayala, Minh-Dang Nguyen et al. · Neuron · 2004 · 357 citations · Full text

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Mosaic mutations of the <i>LIS1</i> gene cause subcortical band heterotopia

Federico Sicca, Arpad Kelemen, Pierre Genton et al. · Neurology · 2003 · 126 citations

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