Concepedia

Brieana Fregeau

BF

Statistics

Publications

10

Citations

852

H-Index

10

Active since

2015

Affiliations

University of California, San Francisco(Current)

Inserm

Children's Hospital of Philadelphia

Boston Children's Hospital

Sorbonne Université

Brieana Fregeau is an author at University of California, San Francisco specializing in medicine, genetics, and developmental biology.

Top concepts

Publications per year

2015–2021

10

Publications

10

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 205 citations · Full text

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Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen, Sateesh Maddirevula, Nour Ewida et al. · Genetics in Medicine · 2018 · 120 citations · Full text

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin et al. · Annals of Clinical and Translational Neurology · 2015 · 119 citations · Full text

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 96 citations · Full text

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández et al. · The American Journal of Human Genetics · 2016 · 92 citations · Full text

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