Concepedia

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Onur Emre Onat, Süleyman Gülsüner, Kaya Bilgüvar, A. Nazlı Başak, Haluk Topaloğlu, Meli̇ha Tan, Üner Tan, Murat Günel, Tayfun Özçelık

European Journal of Human Genetics · 2012 · 137 citations · 36 references

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References

36

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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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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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Da Wei Huang, Brad T. Sherman, Richard A. Lempicki · Nature Protocols · 2008 · 37.4K citations

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A new mathematical model for relative quantification in real-time RT-PCR

Michael W. Pfaffl · Nucleic Acids Research · 2001 · 34.9K citations · Full text

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BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K citations · Full text

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