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Items: 1 to 20 of 99

1.

Natural selection on genes that underlie human disease susceptibility.

Blekhman R, Man O, Herrmann L, Boyko AR, Indap A, Kosiol C, Bustamante CD, Teshima KM, Przeworski M.

Curr Biol. 2008 Jun 24;18(12):883-9. doi: 10.1016/j.cub.2008.04.074.

2.

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.

Spataro N, Rodríguez JA, Navarro A, Bosch E.

Hum Mol Genet. 2017 Feb 1;26(3):489-500. doi: 10.1093/hmg/ddw405.

3.

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Boyadjiev SA, Jabs EW.

Clin Genet. 2000 Apr;57(4):253-66. Review.

PMID:
10845565
4.

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes.

Franke L, van Bakel H, Fokkens L, de Jong ED, Egmont-Petersen M, Wijmenga C.

Am J Hum Genet. 2006 Jun;78(6):1011-25. Epub 2006 Apr 25.

5.

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN, Kehrer-Sawatzki H.

Hum Genomics. 2011 Jan;5(2):99-107. Review.

6.

Finding genes influencing susceptibility to complex diseases in the post-genome era.

Rannala B.

Am J Pharmacogenomics. 2001;1(3):203-21. Review.

PMID:
12083968
7.

Are rare variants responsible for susceptibility to complex diseases?

Pritchard JK.

Am J Hum Genet. 2001 Jul;69(1):124-37. Epub 2001 Jun 12.

8.

The role of genes in disease: beware of simplistic interpretations!

[No authors listed]

Prescrire Int. 2009 Dec;18(104):279-82.

PMID:
20027720
9.
10.

The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG, Gao Z, Baker Z, Diesel JF, Simons YB, Haque IS, Pickrell J, Przeworski M.

PLoS Genet. 2017 Sep 28;13(9):e1006915. doi: 10.1371/journal.pgen.1006915. eCollection 2017 Sep. Erratum in: PLoS Genet. 2018 Jul 2;14(7):e1007499.

11.

Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

Borate B, Baxevanis AD.

Curr Protoc Bioinformatics. 2009 Sep;Chapter 1:Unit 1.2. doi: 10.1002/0471250953.bi0102s27.

PMID:
19728286
12.
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15.

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A.

Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26.

16.

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases.

Gefen A, Cohen R, Birk OS.

Hum Mutat. 2010 Mar;31(3):229-36. doi: 10.1002/humu.21171.

PMID:
20052752
17.

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.

Huang H, Winter EE, Wang H, Weinstock KG, Xing H, Goodstadt L, Stenson PD, Cooper DN, Smith D, Albà MM, Ponting CP, Fechtel K.

Genome Biol. 2004;5(7):R47. Epub 2004 Jun 28.

18.

Natural selection on protein-coding genes in the human genome.

Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, Civello D, Adams MD, Cargill M, Clark AG.

Nature. 2005 Oct 20;437(7062):1153-7.

PMID:
16237444
19.

A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster.

Reiter LT, Potocki L, Chien S, Gribskov M, Bier E.

Genome Res. 2001 Jun;11(6):1114-25.

20.

Selective pressures at a codon-level predict deleterious mutations in human disease genes.

Arbiza L, Duchi S, Montaner D, Burguet J, Pantoja-Uceda D, Pineda-Lucena A, Dopazo J, Dopazo H.

J Mol Biol. 2006 May 19;358(5):1390-404. Epub 2006 Mar 15.

PMID:
16584746

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