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Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibraryJenny Lord, Alistair T Pagnamenta, Letizia Vestito, et al.The Journal of Infectious Diseases|August 13, 2018
HLA and KIR Associations of Cervical NeoplasiaXiao Bao, Aimee L Hanson, Margaret M Madeleine, et al.Investigative Ophthalmology & Visual Science|June 4, 2020
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility LociXiu-Feng Huang, Zhixiu Li, Erika De Guzman, et al.Arthritis & Rheumatology (Hoboken, N.J.)|September 10, 2014
Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitisPhilip C Robinson, Theodora A M Claushuis, Adrian Cortes, et al.Human Molecular Genetics|May 6, 2015
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studiesTianhua Niu, Ning Liu, Ming Zhao, et al.American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 11, 2015
Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association StudiesTianhua Niu, Ning Liu, Xun Yu, et al.Genome Medicine|November 19, 2017
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in ChineseJacob Gratten, Qiongyi Zhao, Beben Benyamin, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical PracticeIvone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.Nature Genetics|January 12, 2010
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci, John D Reveille, Anne-Marie Sims, et al.Pageof 38