| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
|
Hum Mol Genet
|
2006
|
3.06
|
|
2
|
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
|
Brain
|
2003
|
2.55
|
|
3
|
Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure.
|
Development
|
2007
|
2.45
|
|
4
|
Heterozygous mutations of OTX2 cause severe ocular malformations.
|
Am J Hum Genet
|
2005
|
2.26
|
|
5
|
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
|
|
6
|
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
|
Am J Hum Genet
|
2009
|
1.57
|
|
7
|
Sonic hedgehog and the molecular regulation of mouse neural tube closure.
|
Development
|
2002
|
1.44
|
|
8
|
Cordon-bleu is a conserved gene involved in neural tube formation.
|
Dev Biol
|
2003
|
1.44
|
|
9
|
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
|
J Clin Endocrinol Metab
|
2008
|
1.34
|
|
10
|
Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis.
|
J Comp Neurol
|
2008
|
1.11
|
|
11
|
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
|
J Med Genet
|
2010
|
1.06
|
|
12
|
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
|
Hum Mol Genet
|
2008
|
1.03
|
|
13
|
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
|
J Clin Endocrinol Metab
|
2011
|
1.02
|
|
14
|
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling.
|
PLoS One
|
2011
|
0.99
|
|
15
|
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
|
|
16
|
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
|
|
17
|
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
|
J Med Genet
|
2007
|
0.88
|
|
18
|
Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos.
|
J Anat
|
2010
|
0.87
|
|
19
|
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
|
J Clin Endocrinol Metab
|
2008
|
0.84
|
|
20
|
Neuronal function of Tbx20 conserved from nematodes to vertebrates.
|
Dev Biol
|
2008
|
0.82
|
|
21
|
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
|
Mol Cell Endocrinol
|
2012
|
0.82
|
|
22
|
Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia.
|
Mol Cell Neurosci
|
2003
|
0.78
|
|
23
|
Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.
|
Invest Ophthalmol Vis Sci
|
2012
|
0.75
|