Rebecca O. Littlejohn

发表论文 40 篇 · 总被引 1222 次 · h-index 17

代表论文

• 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)
• Mutation update for the SATB2 gene (2019 · Human Mutation · 被引 43)
• Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics (2021 · Genetics in Medicine · 被引 39)
• Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability (2024 · The American Journal of Human Genetics · 被引 27)
• Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency (2020 · Molecular Genetics and Metabolism · 被引 24)
• De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype (2020 · American Journal of Medical Genetics Part A · 被引 19)