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Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.JHEP Reports : Innovation in Hepatology|December 11, 2023
A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in miceEleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 12, 2024
A Phase II Study Assessing Long-term Response to Ibrutinib Monotherapy in Recurrent or Refractory CNS LymphomaChristian Grommes, Subhiksha Nandakumar, Lauren R Schaff, et al.Nature Genetics|March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen, Colin A Johnson, Neil V Morgan, et al.EJNMMI Research|January 24, 2022
Validation and test-retest repeatability performance of parametric methods for [11C]UCB-J PETHayel Tuncel, Ronald Boellaard, Emma M Coomans, et al.Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Specificity of a polygenic score for aggressive prostate cancerAnna M Dornisch, George J Xu, Roshan Karunamuni, et al.Medrxiv : the Preprint Server for Health Sciences|June 8, 2021
IL10RB as a key regulator of COVID-19 host susceptibility and severityGeorgios Voloudakis, Gabriel Hoffman, Sanan Venkatesh, et al.NPJ Genomic Medicine|September 5, 2022
A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibilityGeorgios Voloudakis, James M Vicari, Sanan Venkatesh, et al.Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.Annals of Surgery|June 26, 2024
A Randomized Crossover Trial Evaluating the Impact of Cultural Dexterity Training on Surgical Residents' Knowledge, Cross-Cultural Care, Skills, and Beliefs: The Provider Awareness and Cultural Dexterity Training for Surgeons (PACTS) TrialDouglas S Smink, Gezzer Ortega, Brittany M Dacier, et al.Pageof 179