Gill Bejerano

机构：Stanford University · ORCID：0000-0001-5179-3635

发表论文 183 篇 · 总被引 25784 次 · h-index 53

代表论文

• WhichTF is functionally important in your open chromatin data? (2022 · PLoS Computational Biology · 被引 189)
• Beyond the exome: What’s next in diagnostic testing for Mendelian conditions (2023 · The American Journal of Human Genetics · 被引 130)
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020 · Genetics in Medicine · 被引 53)
• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021 · Genetics in Medicine · 被引 51)
• Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 41)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 40)