Concepedia

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin,

The American Journal of Human Genetics · 2012 · 114 citations · 25 references

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25

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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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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Accounting for Human Polymorphisms Predicted to Affect Protein Function

Pauline C. Ng, Steven Henikoff · Genome Research · 2002 · 704 citations · Full text

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Native GABAB receptors are heteromultimers with a family of auxiliary subunits

Jochen Schwenk, Michaela Metz, Gerd Zolles et al. · Nature · 2010 · 326 citations · Full text

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

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