Concepedia

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B. Patil, Shawn Levy, Amiya K. Ghosh, Carlos Murga‐Zamalloa,

Nature Genetics · 2010 · 318 citations · 30 references

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30

Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

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Proteomic characterization of the human centrosome by protein correlation profiling

Jens Andersen, Christopher J. Wilkinson, Thibault Mayor et al. · Nature · 2003 · 1.3K citations

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

, , +9

Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

Vincent H. Gattone, Xiaofang Wang, Peter C. Harris et al. · Nature Medicine · 2003 · 669 citations

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