|
1
|
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
|
N Engl J Med
|
2005
|
5.37
|
|
2
|
Human chromosome 7: DNA sequence and biology.
|
Science
|
2003
|
3.02
|
|
3
|
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
|
Am J Hum Genet
|
2006
|
2.14
|
|
4
|
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
|
Development
|
2005
|
1.93
|
|
5
|
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
|
Am J Med Genet A
|
2006
|
1.70
|
|
6
|
Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.
|
Science
|
2003
|
1.51
|
|
7
|
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
|
Am J Hum Genet
|
2013
|
1.22
|
|
8
|
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
|
Am J Hum Genet
|
2008
|
1.19
|
|
9
|
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
|
Am J Med Genet A
|
2008
|
1.08
|
|
10
|
Transgenic mouse overexpressing syntaxin-1A as a diabetes model.
|
Diabetes
|
2005
|
1.05
|
|
11
|
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
|
Hum Genet
|
2005
|
1.03
|
|
12
|
The Centre for Modeling Human Disease Gene Trap resource.
|
Nucleic Acids Res
|
2004
|
1.00
|
|
13
|
Duplication of GTF2I results in separation anxiety in mice and humans.
|
Am J Hum Genet
|
2012
|
0.96
|
|
14
|
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.
|
J Bone Miner Res
|
2011
|
0.94
|
|
15
|
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.
|
Exp Hematol
|
2010
|
0.94
|
|
16
|
Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.
|
J Neurodev Disord
|
2010
|
0.85
|
|
17
|
A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
|
J Cell Biochem
|
2012
|
0.85
|
|
18
|
Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.
|
PLoS One
|
2011
|
0.85
|
|
19
|
Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis.
|
J Immunol
|
2010
|
0.81
|
|
20
|
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans.
|
Physiol Genomics
|
2007
|
0.80
|
|
21
|
First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
|
J Bone Miner Res
|
2014
|
0.79
|
|
22
|
Genomic rearrangements in the spotlight.
|
Nat Genet
|
2008
|
0.78
|
|
23
|
Cytopenia induction by 5-fluorouracil identifies thrombopoietic mutants in sensitized ENU mutagenesis screens.
|
Exp Hematol
|
2011
|
0.78
|
|
24
|
Bouncing back from elastin deficiency.
|
Circ Res
|
2007
|
0.77
|
|
25
|
Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I(1,2).
|
eNeuro
|
2015
|
0.76
|
|
26
|
Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.
|
Mol Cytogenet
|
2011
|
0.76
|
|
27
|
Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.
|
PLoS One
|
2013
|
0.76
|
|
28
|
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
|
Am J Med Genet
|
2002
|
0.75
|