Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome-Reference-Cited by-同舟云学术

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Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome

Published:2015-07-12 Issue:9 Volume:134 Page:1003-1011
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Theis Jeanne L.,Hrstka Sybil C. L.,Evans Jared M.,O’Byrne Megan M.,de Andrade Mariza,O’Leary Patrick W.,Nelson Timothy J.,Olson Timothy M.

Funder

Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome, Mayo Clinic Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-015-1582-1.pdf

Reference35 articles.

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101. doi: 10.1038/ng786

2. Adzhubei IA, Schmidt S, Peshkin L, Remensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Method 7:248–249. doi: 10.1038/nmeth0410-248

3. Danacek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R, 1000 Genomes Project Analysis Group (2011) The variant call format and VCF tools. Bioinformatics 27:2156–2158. doi: 10.1093/bioinformatics/btr330

4. DePristo MA, Banks E, Poplin RE, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498. doi: 10.1038/ng.806

5. Ehebauer MT, Chirgadze DY, Hayward P, Martinez Arias A, Blundell TL (2005) High-resolution crystal structure of the human Notch 1 ankyrin domain. Biochem J 392:13–20. doi: 10.1042/BJ20050515

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