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Brain : a Journal of Neurology|December 17, 2013
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Peter R Baker, Marisa W Friederich, Michael A Swanson, et al.Nature|September 28, 2022
PD-1 combination therapy with IL-2 modifies CD8+ T cell exhaustion programMasao Hashimoto, Koichi Araki, Maria A Cardenas, et al.Nature Immunology|November 12, 2024
Disease-associated B cells and immune endotypes shape adaptive immune responses to SARS-CoV-2 mRNA vaccination in human SLECaterina E Faliti, Trinh T P Van, Fabliha A Anam, et al.American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.Diabetes Care|November 12, 2025
INHALE-1: A Multicenter Randomized Trial of Inhaled Technosphere Insulin in Children With Type 1 DiabetesMichael J Haller, Lauren Kanapka, Roshanak Monzavi, et al.American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.Pageof 32