Sorina Mihaela Papuc

Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B_₆-dependent epilepsy

Barbara Plecko, Markus Zweier, Anaïs Begemann et al. · Journal of Medical Genetics · 2017 · 78 citations

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways

Matthew A. Lalli, Jiwon Jang, Joo-Hye C. Park et al. · Human Molecular Genetics · 2016 · 77 citations · Full text

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives

Álvaro Bejarano‐Martín, Ricardo Canal‐Bedia, María Magán‐Maganto et al. · Journal of Autism and Developmental Disorders · 2019 · 66 citations · Full text

Family Medicine, Child Psychology, Early Childhood Development +10

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Lucia Abela, Ronen Spiegel, Lisa M. Crowther et al. · PLoS ONE · 2017 · 53 citations · Full text

Metabolic Disorder, Plasma Metabolomics, Aco2 Deficiency +19