Tiana M. Scott

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel et al. · The American Journal of Human Genetics · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Tiana M. Scott, Ian M. Campbell, Andrés Hernández et al. · Journal of Medical Genetics · 2021 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>BAZ2B</i> haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Tiana M. Scott, Hui Guo, Evan E. Eichler et al. · Human Mutation · 2020 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

Chun‐An Chen, John Lattier, Wenmiao Zhu et al. · Genetics in Medicine · 2021 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency

Yoel Gofin, Tianyun Wang, Madelyn A. Gillentine et al. · Human Mutation · 2022 · 16 citations · Full text

Medicine, Genetics, Molecular Genetics +17