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American Journal of Medical Genetics. Part A|July 7, 2020
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, et al.Cells|April 13, 2023
Loss-of-Function Variants in <i>DRD1</i> in Infantile Parkinsonism-DystoniaKimberley M Reid, Dora Steel, Sanjana Nair, et al.Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.Pageof 3