Susan E. Waisbren

机构：Boston Children's Hospital · ORCID：0000-0003-0013-700X

发表论文 176 篇 · 总被引 12031 次 · h-index 53

代表论文

• Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project (2021 · Archives of Pediatrics and Adolescent Medicine · 被引 86)
• Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project (2021 · Genetics in Medicine · 被引 83)
• Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders (2020 · American Journal on Intellectual and Developmental Disabilities · 被引 64)
• Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria (2021 · American Journal of Medical Genetics Part A · 被引 21)
• ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype (2021 · Human Genetics · 被引 21)
• Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments (2022 · Metabolic Brain Disease · 被引 20)