selected publications
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Osteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.
Journal of the Pediatric Orthopaedic Society of North America.
2025
Article
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Times cited: 1 - KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. ArXiv. 2025 Article GET IT
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Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Genetics in medicine open.
2024
Academic Article
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Times cited: 1 -
Further delineation of the SCAF4-associated neurodevelopmental disorder.
European journal of human genetics : EJHG.
2024
Academic Article
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Times cited: 3 -
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.
The British journal of dermatology.
2024
Article
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Times cited: 1 - Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement. Movement disorders clinical practice. 2024 Article GET IT
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Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
Pediatric nephrology (Berlin, Germany).
2024
Article
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Times cited: 2 -
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: 24 -
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: 41 -
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Human mutation.
2022
Academic Article
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Times cited: 13 -
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
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Times cited: 6 -
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: 15 -
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: 59 -
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: 100 -
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
Information Resource
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Times cited: 48 -
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency.
Journal of clinical immunology.
2020
Article
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Times cited: 10 -
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Molecular syndromology.
2016
Information Resource
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Times cited: 214