Concepedia

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun, Rowida Almomani, Christian Gilissen, Maartje Nielsen, Sarina G. Kant, I. Snoeck, E Peeters, Yvonne Hilhorst‐Hofstee,

Nature Genetics · 2012 · 350 citations · 10 references

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10

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K 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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Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

Kai Wang, Junsuo Kan, Siu Tsan Yuen et al. · Nature Genetics · 2011 · 775 citations

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Practical Genetic Counselling.

Annals of Internal Medicine · 1981 · 315 citations

, , +17

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

Grange S. Coffin · Archives of Pediatrics and Adolescent Medicine · 1970 · 193 citations

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