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Elena V. Semina

Medical College of Wisconsin
University of Iowa
Children's Hospital of Wisconsin

129

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5733

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Identification of missense MAB21L1 variants in microphthalmia and aniridia.

2021 Human Mutation
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Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.

2021 Developmental Dynamics
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Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

2021 Human Molecular Genetics
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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.

2021 Human Genetics
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Deletion of conserved non-coding elements downstream of foxc1a in zebrafish affects its expression and produces ocular phenotype

2021 Investigative Ophthalmology & Visual Science
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Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

2021 American Journal of Medical Genetics Part A
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Author response for "Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia"

2020
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Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

2020 Clinical Genetics
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Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

2020 Human Molecular Genetics
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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

2020 Clinical Genetics
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