Lucia Ortega

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

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

Golder N Wilson, Vikki Stefans, Wendy K. Chung, 2017, Cold Spring Harbor molecular case studies.

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

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

R. Hennekam, M. Tartaglia, R. Genesio, 2017, American journal of medical genetics. Part A.