Published in Nature on August 22, 2010
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Identification of genetic association of multiple rare variants using collapsing methods. Genet Epidemiol (2011) 1.26
Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet (2014) 1.22
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS One (2011) 1.21
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The use of next-generation sequencing in movement disorders. Front Genet (2012) 0.94
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun (2015) 0.92
Docking interactions of the JNK scaffold protein WDR62. Biochem J (2011) 0.92
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet (2014) 0.92
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics (2012) 0.91
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet (2014) 0.91
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. Wiley Interdiscip Rev Dev Biol (2013) 0.90
Opposing roles for JNK and Aurora A in regulating the association of WDR62 with spindle microtubules. J Cell Sci (2015) 0.90
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Structural and functional impact of cancer-related missense somatic mutations. J Mol Biol (2011) 0.89
A common mechanism for microcephaly. Nat Genet (2010) 0.89
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
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Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
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Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
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