|
1
|
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
|
Am J Hum Genet
|
2008
|
3.11
|
|
2
|
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
|
Lancet Neurol
|
2007
|
2.80
|
|
3
|
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
Nat Genet
|
2010
|
2.61
|
|
4
|
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.
|
Genome Biol
|
2011
|
2.11
|
|
5
|
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
|
PLoS Genet
|
2011
|
1.80
|
|
6
|
Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.
|
J Infect Dis
|
2007
|
1.71
|
|
7
|
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
|
Eur J Hum Genet
|
2008
|
1.36
|
|
8
|
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
|
Eur J Med Genet
|
2010
|
1.27
|
|
9
|
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
|
Eur J Hum Genet
|
2010
|
1.26
|
|
10
|
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
|
PLoS One
|
2009
|
1.23
|
|
11
|
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
|
Neurogenetics
|
2011
|
1.21
|
|
12
|
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
|
Hum Mol Genet
|
2012
|
1.17
|
|
13
|
Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.
|
Genome Res
|
2013
|
1.15
|
|
14
|
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
|
J Lipid Res
|
2008
|
1.09
|
|
15
|
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
|
Am J Med Genet B Neuropsychiatr Genet
|
2010
|
1.06
|
|
16
|
Accurate determination of microsatellite allele frequencies in pooled DNA samples.
|
Eur J Hum Genet
|
2004
|
0.92
|
|
17
|
Genome-wide association scan in HIV-1-infected individuals identifying variants influencing disease course.
|
PLoS One
|
2011
|
0.88
|
|
18
|
Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.
|
PLoS One
|
2011
|
0.87
|
|
19
|
The SPINK gene family and celiac disease susceptibility.
|
Immunogenetics
|
2007
|
0.84
|
|
20
|
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
|
Eur J Med Genet
|
2007
|
0.82
|