|
1
|
Diagnostic genome profiling in mental retardation.
|
Am J Hum Genet
|
2005
|
8.60
|
|
2
|
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
|
Nat Genet
|
2004
|
6.90
|
|
3
|
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
|
Am J Hum Genet
|
2003
|
5.43
|
|
4
|
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
|
Hum Mol Genet
|
2009
|
1.84
|
|
5
|
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
|
DNA Res
|
2007
|
1.60
|
|
6
|
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
|
Invest Ophthalmol Vis Sci
|
2007
|
1.54
|
|
7
|
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
|
Am J Hum Genet
|
2012
|
1.49
|
|
8
|
Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.
|
Clin Biochem
|
2013
|
1.46
|
|
9
|
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
|
PLoS Genet
|
2011
|
1.13
|
|
10
|
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
|
J Med Genet
|
2013
|
1.08
|
|
11
|
Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.
|
Blood
|
2004
|
1.04
|
|
12
|
Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.
|
Biotechniques
|
2003
|
0.99
|
|
13
|
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.
|
Prenat Diagn
|
2014
|
0.75
|