Elly Brokamp

机构：Boston Children's Hospital, Boston Children's Museum · ORCID：0000-0002-2722-2856

发表论文 63 篇 · 总被引 1752 次 · h-index 26

代表论文

• Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics (2023 · Bioinformatics · 被引 66)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 39)
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia (2023 · Brain · 被引 36)
• TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system (2023 · Proceedings of the National Academy of Sciences · 被引 31)
• Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays (2023 · European Journal of Human Genetics · 被引 26)
• Practical considerations for reinterpretation of individual genetic variants (2023 · Genetics in Medicine · 被引 25)