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1
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
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Nat Genet
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2004
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2.72
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2
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
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Hum Mol Genet
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2002
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2.33
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3
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SOX2 anophthalmia syndrome.
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Am J Med Genet A
|
2005
|
2.24
|
|
4
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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
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Hum Mol Genet
|
2006
|
2.17
|
|
5
|
ACMG position statement on prenatal/preconception expanded carrier screening.
|
Genet Med
|
2013
|
1.78
|
|
6
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Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.
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Obstet Gynecol
|
2015
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1.34
|
|
7
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Role of SOX2 mutations in human hippocampal malformations and epilepsy.
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Epilepsia
|
2006
|
1.22
|
|
8
|
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
|
Mol Vis
|
2008
|
1.06
|
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9
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FOXE3 plays a significant role in autosomal recessive microphthalmia.
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Am J Med Genet A
|
2010
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1.06
|
|
10
|
The genetics of anophthalmia and microphthalmia.
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Curr Opin Ophthalmol
|
2011
|
1.01
|
|
11
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
|
Hum Mol Genet
|
2013
|
1.01
|
|
12
|
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
|
Hum Mutat
|
2011
|
0.95
|
|
13
|
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
|
Genet Med
|
2011
|
0.94
|
|
14
|
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
|
PLoS One
|
2010
|
0.92
|
|
15
|
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
|
J Med Genet
|
2012
|
0.88
|
|
16
|
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.
|
BMC Genet
|
2010
|
0.87
|
|
17
|
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
|
Mol Vis
|
2010
|
0.84
|
|
18
|
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.
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J Community Genet
|
2014
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0.84
|
|
19
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An 18-year follow-up report on an infant with a duplication of 9q34.
|
Am J Med Genet A
|
2010
|
0.83
|
|
20
|
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.
|
Am J Med Genet A
|
2005
|
0.80
|
|
21
|
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.
|
Am J Med Genet A
|
2011
|
0.79
|
|
22
|
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
|
BMC Med Genet
|
2011
|
0.79
|
|
23
|
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
|
JIMD Rep
|
2012
|
0.79
|
|
24
|
Monozygotic twins discordant for VACTERL association.
|
Prenat Diagn
|
2008
|
0.77
|
|
25
|
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum.
|
Case Rep Pediatr
|
2013
|
0.75
|