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Nature Genetics|December 8, 2015
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiencyHaifa H Jabara, Steven E Boyden, Janet Chou, et al.Arthritis & Rheumatology (Hoboken, N.J.)|May 8, 2018
Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African AmericansPravitt Gourh, Elaine F Remmers, Steven E Boyden, et al.Proceedings of the National Academy of Sciences of the United States of America|December 25, 2019
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicryPravitt Gourh, Sarah A Safran, Theresa Alexander, et al.Annals of the Rheumatic Diseases|February 5, 2026
Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosisUrvashi Kaundal, Pei-Suen Tsou, Mousumi Sahu, et al.Nature|December 13, 2019
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory diseaseNajoua Lalaoui, Steven E Boyden, Hirotsugu Oda, et al.NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.Pageof 3