Lori-Anne Schillaci

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Publications

Citations

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Active since

2019

Affiliations

Case Western Reserve University(Current)

University Hospitals of Cleveland

Center for Human Genetics

Children's Hospital Colorado

University of Colorado Denver

Lori-Anne Schillaci is an author at Case Western Reserve University specializing in genetic neurodevelopmental syndromes, inherited variants, and genetics.

Publications per year

2019–2021

Publications

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa, Jessica X. Chong, Amélie Piton et al. · Genetics in Medicine · 2019 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

William B. Hannah, Katherine Dempsey, Lori-Anne Schillaci et al. · Molecular Genetics and Metabolism Reports · 2019 · 12 citations · Full text

Life Sciences, Cardiology, Physiology +16

A Novel Homozygous Missense Mutation in the <i>YARS</i> Gene: Expanding the Phenotype of <i>YARS</i> Multisystem Disease

Rawah K H M Zeiad, Edwin Ferren, Denise Young et al. · Journal of the Endocrine Society · 2021 · 10 citations · Full text

Life Sciences, Endocrinology, Genetics +17

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