Biography and Research Information
Metrics
- h-index: 13
- Publications: 33
- Citations: 605
Selected Publications
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P288: A review of phenotypic and genetic data in craniofacial microsomia cases from a multidisciplinary craniofacial clinic (2025)
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Pathogenic <i>SATB2</i> missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (2024)
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Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome (2024)
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Bone health in <i>SATB2</i>‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance (2023)
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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome (2023)
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P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal (2023)
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Growth in individuals with <i>SATB2</i>‐associated syndrome (2022)
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<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability (2021)
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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases (2021)
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<scp><i>SATB2</i>‐associated</scp> syndrome in adolescents and adults (2021)
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Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations (2021)