Concepedia

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

Anil Chekuri, Aditya A. Guru, Pooja Biswas, Kari Branham, Shyamanga Borooah, Angel Soto‐Hermida, Michael Hicks, Naheed W. Khan, Hiroko Matsui, Akhila Alapati,

Human Genetics · 2018 · 21 citations · 30 references

DOI

Concepts

References

30

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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Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9

John G. Doench, Nicolò Fusi, Meagan E. Sullender et al. · Nature Biotechnology · 2016 · 5K citations

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DNA targeting specificity of RNA-guided Cas9 nucleases

Patrick D. Hsu, David A. Scott, Joshua A. Weinstein et al. · Nature Biotechnology · 2013 · 4.9K citations · Full text

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Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.8K citations

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<i>Chlamydomonas IFT</i>88 and Its Mouse Homologue, Polycystic Kidney Disease Gene <i>Tg</i>737, Are Required for Assembly of Cilia and Flagella

Gregory J. Pazour, Bethany L. Dickert, Yvonne Vucica et al. · The Journal of Cell Biology · 2000 · 1.1K citations · Full text

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