|
1
|
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
|
Nat Genet
|
2009
|
3.03
|
|
2
|
Human neural tube defects: developmental biology, epidemiology, and genetics.
|
Neurotoxicol Teratol
|
2005
|
2.62
|
|
3
|
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
|
Am J Hum Genet
|
2009
|
2.09
|
|
4
|
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
|
Nat Genet
|
2007
|
2.03
|
|
5
|
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
|
Am J Hum Genet
|
2007
|
1.86
|
|
6
|
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
|
Hum Mol Genet
|
2008
|
1.23
|
|
7
|
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
|
Hum Mutat
|
2009
|
1.20
|
|
8
|
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
|
J Med Genet
|
2012
|
1.02
|
|
9
|
ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.
|
PLoS One
|
2012
|
1.01
|
|
10
|
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
|
Gastroenterology
|
2011
|
0.97
|
|
11
|
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
|
Dis Model Mech
|
2008
|
0.97
|
|
12
|
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
|
Hum Genet
|
2005
|
0.84
|
|
13
|
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
|
Prenat Diagn
|
2006
|
0.82
|
|
14
|
Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen.
|
Pigment Cell Melanoma Res
|
2011
|
0.80
|
|
15
|
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
|
Birth Defects Res A Clin Mol Teratol
|
2012
|
0.80
|
|
16
|
A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus.
|
PLoS One
|
2013
|
0.78
|