Brieana Fregeau

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

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 · 124 citations · Full text

Life Sciences, Genetics, Neurology +17

Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen, Sateesh Maddirevula, Nour Ewida et al. · Genetics in Medicine · 2018 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12