Laura Russell

机构：McGill University

发表论文 70 篇 · 总被引 2236 次 · h-index 22

代表论文

• Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome (2002 · The American Journal of Human Genetics · 被引 375)
• Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (2017 · The American Journal of Human Genetics · 被引 224)
• FOXP3 Forkhead Domain Mutation and Regulatory T Cells in the IPEX Syndrome (2009 · New England Journal of Medicine · 被引 122)
• Spectroscopy, Manipulation and Trapping of Neutral Atoms, Molecules, and Other Particles Using Optical Nanofibers: A Review (2013 · Sensors · 被引 90)
• A Clinical Program for Transgender and Gender-Diverse Neurodiverse/Autistic Adolescents Developed through Community-Based Participatory Design (2020 · Journal of Clinical Child & Adolescent Psychology · 被引 80)
• Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption (2010 · Blood · 被引 53)