|
1
|
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
Nature
|
2012
|
13.71
|
|
2
|
Sensitive and accurate detection of copy number variants using read depth of coverage.
|
Genome Res
|
2009
|
7.42
|
|
3
|
Microduplications of 16p11.2 are associated with schizophrenia.
|
Nat Genet
|
2009
|
6.13
|
|
4
|
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
|
Nature
|
2011
|
3.51
|
|
5
|
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
|
Neuron
|
2011
|
3.08
|
|
6
|
Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel.
|
Genome Res
|
2004
|
2.22
|
|
7
|
Family-based association tests for sequence data, and comparisons with population-based association tests.
|
Eur J Hum Genet
|
2013
|
1.55
|
|
8
|
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
|
PLoS Genet
|
2013
|
1.53
|
|
9
|
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.
|
Genomics
|
2013
|
1.51
|
|
10
|
Whole transcriptome amplification for gene expression profiling and development of molecular archives.
|
Neoplasia
|
2006
|
1.41
|
|
11
|
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
|
Hum Mutat
|
2013
|
1.17
|
|
12
|
Peristat: a computer-based perimetry self-test for cost-effective population screening of glaucoma.
|
Curr Eye Res
|
2005
|
0.85
|
|
13
|
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
|
Hum Genet
|
2012
|
0.84
|
|
14
|
Inhibiting DNA Methylation Causes an Interferon Response in Cancer via dsRNA Including Endogenous Retroviruses.
|
Cell
|
2016
|
0.80
|
|
15
|
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
|
J Mol Med (Berl)
|
2013
|
0.79
|
|
16
|
Arrest of self-focusing collapse in femtosecond air filaments: higher order Kerr or plasma defocusing?
|
Opt Lett
|
2011
|
0.79
|
|
17
|
Characterization of SLITRK1 variation in obsessive-compulsive disorder.
|
PLoS One
|
2013
|
0.79
|
|
18
|
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
|
Hum Genet
|
2011
|
0.77
|
|
19
|
Inhibiting DNA Methylation Causes an Interferon Response in Cancer via dsRNA Including Endogenous Retroviruses.
|
Cell
|
2017
|
0.75
|
|
20
|
Polarization rotation due to femtosecond filamentation in an atomic gas.
|
Opt Lett
|
2010
|
0.75
|