Human Genomics

Titel Veröffentlichungsdatum Sprache Zitate
Human ATP-binding cassette (ABC) transporter family2008/01/01English454
The human fatty acid-binding protein family: Evolutionary divergences and functions2011/01/01English295
Update on the aldehyde dehydrogenase gene (ALDH) superfamily2011/01/01English243
Analysis of the glutathione S-transferase (GST) gene family2004/01/01English237
Analysis and update of the human solute carrier (SLC) gene superfamily2009/01/01English226
Evolutionary divergence and functions of the human interleukin (IL) gene family2010/01/01English206
Whole genome DNA copy number changes identified by high density oligonucleotide arrays2004/01/01English190
The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs2004/01/01English165
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes2010/01/01English160
In-silico human genomics with GeneCards2011/01/01English153
A survey of current software for network analysis in molecular biology2010/01/01English134
Naming 'junk': Human non-protein coding RNA (ncRNA) gene nomenclature2011/01/01English122
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family2006/01/01English120
The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects2010/01/01English118
The human sirtuin family: Evolutionary divergences and functions2011/01/01English116
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics2009/01/01English112
Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations2006/01/01English110
Population genetic analysis of ascertained SNP data2004/01/01English100
Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis2011/01/01English96
Effect of the allelic variants of aldehyde dehydrogenase ALDH2*2 and alcohol dehydrogenase ADH1B*2 on blood acetaldehyde concentrations2009/01/01English92
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides2010/01/01English91
Evolutionary dynamics of olfactory receptor genes in chordates: interaction between environments and genomic contents2009/01/01English78
Lysosomal storage disorders: Molecular basis and laboratory testing2011/01/01English78
Gametic phase estimation over large genomic regions using an adaptive window approach2003/01/01English75
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture2004/01/01English69
The other lives of ribosomal proteins2010/01/01English69
Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects2009/01/01English68
Update on the olfactory receptor (OR) gene superfamily2008/01/01English68
Krüppel-like factors: Three fingers in control2010/01/01English66
Evolutionary divergence and functions of the ADAM and ADAMTS gene families2009/01/01English65