|
1
|
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
|
Lancet Oncol
|
2010
|
1.98
|
|
2
|
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
|
Am J Hum Genet
|
2008
|
1.86
|
|
3
|
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.
|
Am J Med Genet A
|
2009
|
1.76
|
|
4
|
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
|
Genet Med
|
2006
|
1.39
|
|
5
|
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
|
Eur J Hum Genet
|
2007
|
1.36
|
|
6
|
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
|
Hum Genet
|
2009
|
1.28
|
|
7
|
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.
|
Eur J Hum Genet
|
2008
|
1.22
|
|
8
|
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
|
Hum Mutat
|
2008
|
1.21
|
|
9
|
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
|
Hum Mutat
|
2011
|
1.07
|
|
10
|
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
|
Eur J Hum Genet
|
2005
|
0.94
|
|
11
|
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
|
Hum Genet
|
2009
|
0.94
|
|
12
|
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
|
Kidney Int
|
2008
|
0.84
|
|
13
|
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
|
Am J Med Genet A
|
2007
|
0.81
|
|
14
|
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
|
Genet Test
|
2008
|
0.79
|
|
15
|
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
|
Am J Med Genet A
|
2007
|
0.76
|