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Author

Linda M. Reis

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2 papers indexed here

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Oct 2026

Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders.

PURPOSE Pathogenic variants in CDH2 cause agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (ACOGS). We aimed to define the clinical and molecular landscape of CDH2-related developmental disorders. METHODS Newly identified and previously reported families were analyzed for genotype-phenotype corr...

Linda M. Reis, Smith Ann M. Chisholm, Kailey Frank et al. · 0 citations
Case report Open access Sep 2026

Guillouet-Gordon Syndrome With Severe Microtia in an Infant With a Homozygous Variant in MED16.

Bi-allelic MED16 variants underlie the recently described MEDopathy termed Guillouet-Gordon syndrome (GGNS, MIM #621220), characterized by neurodevelopmental and structural anomalies. To date, 27 individuals with GGNS have been reported, collectively harboring 28 distinct compound heterozygous or homozygous MED16 varia...

Sarah E. Seese, Linda M. Reis, Allison Genchanok et al. · 0 citations

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