selected publications
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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
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Times cited: 1 -
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
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Times cited: 1 -
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Human mutation.
2022
Academic Article
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Times cited: 1 - 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
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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
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Times cited: 7 -
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
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Times cited: 21 -
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: 47 -
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genetics in medicine : official journal of the American College of Medical Genetics.
2020
Review
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Times cited: 19 -
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency.
Journal of clinical immunology.
2020
Letter
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Times cited: 5 -
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Molecular syndromology.
2016
Review
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Times cited: 136