Email

ja13@bcm.edu

Positions

Postdoctoral Fellow

Mol. & Human Gen./Wangler
Baylor College of Medicine
Houston, TX US

Selected Publications

• "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 Mar 31; Pubmed PMID: 37013900
• "De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.." Am J Hum Genet. 2019 Sep 5; Pubmed PMID: 31327508
• "Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.." 2019 Oct 15; Pubmed PMID: 31616000
• "Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases." Cell Rep.. 2022 Mar 15; Pubmed PMID: 35294868