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Linda M. Reis

Medical College of Wisconsin
Children's Hospital of Wisconsin

57

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Identification of missense MAB21L1 variants in microphthalmia and aniridia.

2021 Human Mutation
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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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Establishing Standardized Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders

2021 Investigative Ophthalmology & Visual Science
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Author response for "Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia"

2020
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Author response for "Novel variants in CDH2 are associated with a new syndrome including Peters anomaly"

2019
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De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

2019 American Journal of Human Genetics
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Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

2018 Human Genetics
- Linda M. Reis
- Elena V. Semina
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PITX2 deficiency and associated human disease: insights from the zebrafish model

2018 Human Molecular Genetics
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An exploration of the role of MAB21l1 in MAC-Spectrum Anomalies

2017 Investigative Ophthalmology & Visual Science
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