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Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Molecular Autism|January 29, 2014
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control populationNori Matsunami, Charles H Hensel, Lisa Baird, et al.
The Journal of Allergy and Clinical Immunology|February 14, 2015
Rare variants at 16p11.2 are associated with common variable immunodeficiencyS Melkorka Maggadottir, Jin Li, Joseph T Glessner, et al.
BMC Medical Genetics|May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2Cecilia Mancini, Laura Orsi, Yiran Guo, et al.
Genetics in Medicine Open|March 5, 2026
Single vs dual genetic disease in children with congenital anomalies and solid tumorsDeborah J Watson, Amir Hossein Saeidian, Xiang Wang, et al.
Scientific Reports|August 23, 2017
Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signalingDong Li, Xiao Chang, John J Connolly, et al.
Nature|November 12, 2025
iPEX enables micrometre-resolution deep spatial proteomics via tissue expansionFengxiang Wang, Cuiji Sun, Tianshu William Wu, et al.
Scientific Reports|June 21, 2017
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signalingDong Li, Xiao Chang, John J Connolly, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 29, 2022
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic AnalysisJin Li, Yun R Li, Joseph T Glessner, et al.
Neuroimage|July 8, 2021
On the generalizability of diffusion MRI signal representations across acquisition parameters, sequences and tissue types: Chronicles of the MEMENTO challengeAlberto De Luca, Andrada Ianus, Alexander Leemans, et al.
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