Chad Haldeman‐Englert

机构：Cone Health · ORCID：0000-0001-7581-5333

发表论文 64 篇 · 总被引 2448 次 · h-index 20

代表论文

• A dyadic approach to the delineation of diagnostic entities in clinical genomics (2021 · The American Journal of Human Genetics · 被引 116)
• Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice (2022 · JAMA Neurology · 被引 97)
• DLG4-related synaptopathy: a new rare brain disorder (2021 · Genetics in Medicine · 被引 59)
• Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
• Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome (2022 · PLoS Genetics · 被引 15)
• Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies (2023 · The American Journal of Human Genetics · 被引 13)