Mercedes E. Alejandro

发表论文 42 篇 · 总被引 2059 次 · h-index 26

代表论文

• MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome (2017 · The American Journal of Human Genetics · 被引 230)
• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease (2017 · The American Journal of Human Genetics · 被引 190)
• A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 (2016 · The American Journal of Human Genetics · 被引 125)
• IRF2BPL Is Associated with Neurological Phenotypes (2018 · The American Journal of Human Genetics · 被引 115)
• Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018 · The American Journal of Human Genetics · 被引 110)
• Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification (2019 · The American Journal of Human Genetics · 被引 100)