Sorina Mihaela Papuc

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 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Genetics, Neurology +17

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 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Markus Zweier, Anaïs Begemann, Kirsty McWalter et al. · European Journal of Human Genetics · 2019 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

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 · 72 citations · Full text

Education, Child Health, Pediatrics +17