Concepedia

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès, Bert Callewaert, Sophie Julia, Christel Thauvin‐Robinet, Lucie Gueneau, Jean‐Benoît Courcet, Estelle Lopez, Katherine Holman,

The American Journal of Human Genetics · 2012 · 111 citations · 18 references

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The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

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Reactome knowledgebase of human biological pathways and processes

Lisa Matthews, Gopal Gopinath, Marc Gillespie et al. · Nucleic Acids Research · 2008 · 886 citations · Full text

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Noncanonical TGFβ Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice

Tammy M. Holm, Jennifer Habashi, Jefferson J. Doyle et al. · Science · 2011 · 469 citations · Full text

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