Angad Jolly

机构：Baylor College of Medicine · ORCID：0000-0002-5663-1157

发表论文 39 篇 · 总被引 885 次 · h-index 16

代表论文

• High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (2021 · The American Journal of Human Genetics · 被引 107)
• Centers for Mendelian Genomics: A decade of facilitating gene discovery (2022 · Genetics in Medicine · 被引 81)
• Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease (2023 · The American Journal of Human Genetics · 被引 43)
• Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability (2021 · Human Genetics and Genomics Advances · 被引 40)
• FOXI3 pathogenic variants cause one form of craniofacial microsomia (2023 · Nature Communications · 被引 35)
• The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation (2022 · Genome Medicine · 被引 34)