Simone Race

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 122 citations · Full text

Life Sciences, Genetics, Human Genetics +6

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach et al. · The American Journal of Human Genetics · 2019 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Gabriella Horváth, Michelle Demos, Casper Shyr et al. · Molecular Genetics and Metabolism · 2015 · 45 citations

Medicine, Neurology, Neuroscience +16

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Alison M. Elliott, Shelin Adam, Christèle du Souich et al. · Human Genetics and Genomics Advances · 2022 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous <i>PAK3</i> Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Gabriella Horváth, Maja Tarailo‐Graovac, Tanja Bartel et al. · Journal of Child Neurology · 2017 · 25 citations · Full text

Medicine, Neuroscience, Psychiatry +17