Jonathan Andrews to Phenotype
This is a "connection" page, showing publications Jonathan Andrews has written about Phenotype.
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0.129
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.029
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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders. Dis Model Mech. 2025 07 01; 18(7).
Score: 0.029
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 04 03; 112(4):846-862.
Score: 0.028
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
Score: 0.024
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.019