Precilla D’Souza

机构：Fund for the Replacement of Animals in Medical Experiments, National Human Genome Research Institute · ORCID：0009-0007-0395-1011

发表论文 31 篇 · 总被引 848 次 · h-index 15

代表论文

• Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2019 · Biological Psychiatry · 被引 72)
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder (2020 · Brain · 被引 60)
• De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (2019 · The American Journal of Human Genetics · 被引 57)
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020 · Genetics in Medicine · 被引 49)
• Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome (2019 · Journal of Medical Genetics · 被引 40)
• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 39)