Concepedia

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Peter Krawitz, Yoshiko Murakami, Angelika Rieß, Marja Hietala, Ulrike Krüger, Na Zhu, Taroh Kinoshita, Stefan Mundlos, Jochen Hecht, Peter N. Robinson,

The American Journal of Human Genetics · 2013 · 112 citations · 21 references

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21

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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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li · Bioinformatics · 2011 · 7.4K citations · Full text

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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SRα Promoter: an Efficient and Versatile Mammalian cDNA Expression System Composed of the Simian Virus 40 Early Promoter and the R-U5 Segment of Human T-Cell Leukemia Virus Type 1 Long Terminal Repeat

Yutaka Takebe, Motoharu Seiki, Jun–ichi Fujisawa et al. · Molecular and Cellular Biology · 1988 · 1.3K citations · Full text

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

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