Candace Muss

发表论文 13 篇 · 总被引 471 次 · h-index 8

代表论文

• Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021 · Genome Medicine · 被引 119)
• A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses (2019 · Genetics in Medicine · 被引 114)
• A survey of seizures and current treatments in 15q duplication syndrome (2014 · Epilepsia · 被引 110)
• Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants (2022 · Genetics in Medicine · 被引 50)
• A novel syndrome associated with prenatal fentanyl exposure (2023 · Genetics in Medicine Open · 被引 31)
• HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder (2023 · The American Journal of Human Genetics · 被引 21)