Concepedia

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, Jill Urquhart, Martin Barron, Sanjeev S. Bhaskar, Hercílio Martelli‐Júnior, M. Adela Mansilla, Jeffrey C. Murray, Ricardo D. Coletta,

The American Journal of Human Genetics · 2011 · 163 citations · 18 references

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18

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

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

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 300 citations · Full text

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