Elizabeth Roeder

机构：Baylor College of Medicine · ORCID：0000-0002-8439-657X

发表论文 105 篇 · 总被引 6371 次 · h-index 43

代表论文

• The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019 · Genetics in Medicine · 被引 101)
• Variants in the SK2 channel gene ( KCNN2 ) lead to dominant neurodevelopmental movement disorders (2020 · Brain · 被引 57)
• Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial (2023 · The Journal of Clinical Endocrinology & Metabolism · 被引 51)
• Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy (2019 · Human Mutation · 被引 47)
• Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms (2023 · American Journal of Medical Genetics Part A · 被引 43)
• Mutation update for the SATB2 gene (2019 · Human Mutation · 被引 43)