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Human Molecular Genetics|November 2, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismLein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 1, 2007
Clinical activity and immune modulation in cancer patients treated with CP-870,893, a novel CD40 agonist monoclonal antibodyRobert H Vonderheide, Keith T Flaherty, Magi Khalil, et al.
Haematologica|October 30, 2025
Clinical and germline risk factors for multiple treatment-related toxicities in pediatric acute lymphoblastic leukemiaMarion K Mateos, Chelsea Mayoh, Patricia Sullivan, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 15, 2016
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and ParkinsonismElma Aflaki, Daniel K Borger, Nima Moaven, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
JAMA Surgery|February 16, 2017
Use of Unsolicited Patient Observations to Identify Surgeons With Increased Risk for Postoperative ComplicationsWilliam O Cooper, Oscar Guillamondegui, O Joe Hines, et al.
Nature Medicine|October 6, 2020
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerMarie Wong, Chelsea Mayoh, Loretta M S Lau, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
JAMA Oncology|July 9, 2026
Global Consensus on the Management of Primary Localized ChordomaStefano Radaelli, Anna M Frezza, Piero Fossati, et al.
JAMA Neurology|February 18, 2020
Clinical Effects of the Self-administered Subcutaneous Complement Inhibitor Zilucoplan in Patients With Moderate to Severe Generalized Myasthenia Gravis: Results of a Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical TrialJames F Howard, Richard J Nowak, Gil I Wolfe, et al.
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