Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome-Reference-Cited by-同舟云学术

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Published:2010-08-15 Issue:9 Volume:42 Page:790-793
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Ng Sarah B,Bigham Abigail W,Buckingham Kati J,Hannibal Mark C,McMillin Margaret J,Gildersleeve Heidi I,Beck Anita E,Tabor Holly K,Cooper Gregory M,Mefford Heather C,Lee Choli,Turner Emily H,Smith Joshua D,Rieder Mark J,Yoshiura Koh-ichiro,Matsumoto Naomichi,Ohta Tohru,Niikawa Norio,Nickerson Deborah A,Bamshad Michael J,Shendure Jay

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.646.pdf

Reference14 articles.

1. Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. USA 106, 19096–19101 (2009).

2. Ng, S.B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35 (2010).

3. Ng, S.B. et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272–276 (2009).

4. FitzGerald, K.T. & Diaz, M.O. MLL2: A new mammalian member of the trx/MLL family of genes. Genomics 59, 187–192 (1999).

5. Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T. & Kajii, T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J. Pediatr. 99, 565–569 (1981).

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