Concepedia

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling, Willy M. Nillesen, Heather Moore-Barton, Frances Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai,

Nature Genetics · 2012 · 241 citations · 13 references

DOI

Concepts

References

13

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu et al. · Nature · 1998 · 3.5K citations

, , +14

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

, , +14

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

, , +11

Physical Association and Coordinate Function of the H3 K4 Methyltransferase MLL1 and the H4 K16 Acetyltransferase MOF

Yali Dou, Thomas A. Milne, Alan J. Tackett et al. · Cell · 2005 · 670 citations · Full text

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer et al. · Nature Genetics · 2006 · 664 citations

, , +16