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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming‐Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang,

The American Journal of Human Genetics · 2016 · 60 citations · 25 references

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25

The human splicing code reveals new insights into the genetic determinants of disease

Hui Xiong, Babak Alipanahi, Leo J. Lee et al. · Science · 2014 · 1.3K citations · Full text

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New loci associated with kidney function and chronic kidney disease

Anna Köttgen, Cristian Pattaro, Carsten A. Böger et al. · Nature Genetics · 2010 · 810 citations · Full text

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Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

Jacob C. Ulirsch, Satish K. Nandakumar, Li Wang et al. · Cell · 2016 · 372 citations · Full text

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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Santhi K. Ganesh, Neil A. Zakai, Frank J.A. van Rooij et al. · Nature Genetics · 2009 · 371 citations · Full text

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Vijay G. Sankaran, Roxanne Ghazvinian, Ron Do et al. · Journal of Clinical Investigation · 2012 · 336 citations

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