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Literature DB >> 25230666

When disease strikes from nowhere.

Vivien Marx¹.
1. Nature and Nature Methods.

Abstract

Mesh：

Substances：

Year: 2014 PMID： 25230666 DOI： 10.1038/513445a

Source DB: PubMed Journal: Nature ISSN： 0028-0836 Impact factor: 49.962

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6 in total

1. Basic local alignment search tool.

Authors: S F Altschul; W Gish; W Miller; E W Myers; D J Lipman
Journal: J Mol Biol Date: 1990-10-05 Impact factor: 5.469

2. A probabilistic disease-gene finder for personal genomes.

Authors: Mark Yandell; Chad Huff; Hao Hu; Marc Singleton; Barry Moore; Jinchuan Xing; Lynn B Jorde; Martin G Reese
Journal: Genome Res Date: 2011-06-23 Impact factor: 9.043

3. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Authors: Marc V Singleton; Stephen L Guthery; Karl V Voelkerding; Karin Chen; Brett Kennedy; Rebecca L Margraf; Jacob Durtschi; Karen Eilbeck; Martin G Reese; Lynn B Jorde; Chad D Huff; Mark Yandell
Journal: Am J Hum Genet Date: 2014-04-03 Impact factor: 11.025

4. Genome sequencing identifies major causes of severe intellectual disability.

Authors: Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal: Nature Date: 2014-06-04 Impact factor: 49.962

5. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Authors: Hao Hu; Jared C Roach; Hilary Coon; Stephen L Guthery; Karl V Voelkerding; Rebecca L Margraf; Jacob D Durtschi; Sean V Tavtigian; Wilfred Wu; Paul Scheet; Shuoguo Wang; Jinchuan Xing; Gustavo Glusman; Robert Hubley; Hong Li; Vidu Garg; Barry Moore; Leroy Hood; David J Galas; Deepak Srivastava; Martin G Reese; Lynn B Jorde; Mark Yandell; Chad D Huff
Journal: Nat Biotechnol Date: 2014-05-18 Impact factor: 54.908

6. DeNovoGear: de novo indel and point mutation discovery and phasing.

Authors: Avinash Ramu; Michiel J Noordam; Rachel S Schwartz; Arthur Wuster; Matthew E Hurles; Reed A Cartwright; Donald F Conrad
Journal: Nat Methods Date: 2013-08-25 Impact factor: 28.547

6 in total

1 in total

1. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Authors: W Scott Watkins; E Javier Hernandez; Sergiusz Wesolowski; Brent W Bisgrove; Ryan T Sunderland; Edwin Lin; Gordon Lemmon; Bradley L Demarest; Thomas A Miller; Daniel Bernstein; Martina Brueckner; Wendy K Chung; Bruce D Gelb; Elizabeth Goldmuntz; Jane W Newburger; Christine E Seidman; Yufeng Shen; H Joseph Yost; Mark Yandell; Martin Tristani-Firouzi
Journal: Nat Commun Date: 2019-10-17 Impact factor: 14.919

1 in total