J. Mullikin

发表论文 241 篇 · 总被引 76030 次 · h-index 93

代表论文

• Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease (2020 · New England Journal of Medicine · 被引 889)
• Telomere-to-telomere assembly of a complete human X chromosome (2019 · Nature · 被引 629)
• A robust benchmark for detection of germline large deletions and insertions (2020 · Nature Biotechnology · 被引 365)
• Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease (2019 · Nature · 被引 278)
• De novo assembly of the goldfish (Carassius auratus) genome and the evolution of genes after whole-genome duplication (2018 · Science Advances · 被引 189)
• Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas. (2019 · Neuro-Oncology · 被引 93)