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Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
Nature Biotechnology|February 13, 2018
Nanopore sequencing and assembly of a human genome with ultra-long readsMiten Jain, Sergey Koren, Karen H Miga, et al.
Nature Medicine|March 27, 2012
Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivityRobert E Sorge, Tuan Trang, Ruslan Dorfman, et al.
Circulation|January 4, 2001
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmiasP J Schwartz, S G Priori, C Spazzolini, et al.
Acta Neuropathologica|July 17, 2022
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibitionJonathan R Volpatti, Mehdi M Ghahramani-Seno, Mélanie Mansat, et al.
Therapeutic Advances in Rare Disease|September 22, 2025
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO studyPerry B Shieh, Wendy Hughes, Marie Wood, et al.
Advanced Genetics (Hoboken, N.J.)|December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
HGG Advances|June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Critical Care (London, England)|July 29, 2025
Evaluation of the impact of artificial intelligence-assisted image interpretation on the diagnostic performance of clinicians in identifying endotracheal tube position on plain chest X-ray: a multi-case multi-reader studyAlex Novak, Sarim Ather, Abdala T Espinosa Morgado, et al.
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