selected publications
- Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Academic Article GET IT
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Academic Article GET IT
- The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human mutation. 2022 Academic Article GET IT
- Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Academic Article GET IT
- De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism. 2021 Academic Article GET IT
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A. 2021 Academic Article GET IT
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain : a journal of neurology.
2020
Academic Article
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Times cited: 59 - Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency. Journal of clinical immunology. 2020 Letter GET IT
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Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Molecular syndromology.
2016
Information Resource
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Times cited: 157