Lucia Ortega

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos et al. · Genetics in Medicine · 2019 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autism

Akemi Tanaka, Megan T. Cho, Rebecca Willaert et al. · Molecular Case Studies · 2017 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing

Anke J. Tijsen, Lucia Ortega, Yolan J. Reckman et al. · Circulation · 2021 · 34 citations · Full text

Life Sciences, Genetics, Molecular Biology +16