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The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.Biorxiv : the Preprint Server for Biology|August 16, 2024
The Mac1 ADP-ribosylhydrolase is a Therapeutic Target for SARS-CoV-2Rahul K Suryawanshi, Priyadarshini Jaishankar, Galen J Correy, et al.Melanoma Research|March 10, 2015
High-throughput oncogene mutation profiling shows demographic differences in BRAF mutation rates among melanoma patientsKarin van den Hurk, Balazs Balint, Sinead Toomey, et al.Elife|November 19, 2025
The Mac1 ADP-ribosylhydrolase is a therapeutic target for SARS-CoV-2Rahul K Suryawanshi, Priyadarshini Jaishankar, Galen J Correy, et al.The Lancet. Child & Adolescent Health|September 29, 2023
Paediatric acute hepatitis of unknown aetiology: a national investigation and adenoviraemia case-control study in the UKSema Mandal, Ruth Simmons, Georgina Ireland, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.Pageof 24