Concepedia

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen Richardson, Kelsey McFadden, Jason R. Willer, Davut Pehli̇van, Pengfei Liu, Igor Pediaditakis, Aniko Sabo,

The American Journal of Human Genetics · 2016 · 138 citations · 83 references

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83

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K citations · Full text

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

Danwei Huangfu, Aimin Liu, Andrew S. Rakeman et al. · Nature · 2003 · 1.4K citations

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

Li-En Jao, Susan R. Wente, Wenbiao Chen · Proceedings of the National Academy of Sciences · 2013 · 1.4K citations · Full text

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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Jin Billy Li, Jantje M. Gerdes, Courtney J. Haycraft et al. · Cell · 2004 · 768 citations · Full text

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