David H. Viskochil

机构：University of Utah · ORCID：0000-0001-5364-3366

发表论文 314 篇 · 总被引 16001 次 · h-index 66

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 134)
• ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma (2024 · Journal of Clinical Oncology · 被引 102)
• Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1 (2024 · Neuro-Oncology · 被引 39)
• BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024 · European Journal of Human Genetics · 被引 17)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 16)
• ReNeu: A pivotal phase 2b trial of mirdametinib in children and adults with neurofibromatosis type 1 (NF1)-associated symptomatic inoperable plexiform neurofibroma (PN). (2024 · Journal of Clinical Oncology · 被引 13)