Concepedia

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Guilherme Lopes Yamamoto, Wagner Antonio da Rosa Baratela, Tatiana Ferreira de Almeida, Monize Lazar, Clara L. Afonso, Maria Kiyoko Oyamada, Lisa Suzuki, Ester Silveira Ramos, Chong Ae Kim, Maria Rita Passos‐Bueno,

The American Journal of Human Genetics · 2014 · 53 citations · 31 references

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31

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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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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The active synthesis of phosphatidylcholine is required for very low density lipoprotein secretion from rat hepatocytes.

Zemin Yao, D E Vance · Journal of Biological Chemistry · 1988 · 619 citations · Full text

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama et al. · Nature Genetics · 2004 · 421 citations

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