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JAMA Network Open|January 26, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart DiseaseSarah U Morton, Ami Norris-Brilliant, Sean Cunningham, et al.Neurotoxicology|May 22, 2025
Fish consumption advice is depriving children of neurolipids and other nutrients essential to brain and eye developmentPhilip Spiller, J Thomas Brenna, Susan E Carlson, et al.Cell|November 26, 2013
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathwayChristian Praetorius, Christine Grill, Simon N Stacey, et al.Plos Biology|December 15, 2020
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detectionMartin A M Reijns, Louise Thompson, Juan Carlos Acosta, et al.Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.Emerging Infectious Diseases|December 1, 2020
IgG Seroconversion and Pathophysiology in Severe Acute Respiratory Syndrome Coronavirus 2 InfectionHenry M Staines, Daniela E Kirwan, David J Clark, et al.American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.Nature|June 19, 2010
Size and albedo of Kuiper belt object 55636 from a stellar occultationJ L Elliot, M J Person, C A Zuluaga, et al.American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.Pageof 251