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American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Cancer Discovery|September 26, 2024
DNAJB1-PRKACA Fusion Drives Fibrolamellar Liver Cancer through Impaired SIK Signaling and CRTC2/p300-Mediated Transcriptional ReprogrammingIlaria Gritti, Jinkai Wan, Vajira Weeresekara, et al.
Circulation. Genomic and Precision Medicine|June 10, 2024
Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic CardiomyopathyEdgar E Nollet, Maike Schuldt, Vasco Sequeira, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|January 25, 2024
Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte InflammationKim E Dzobo, Arjen J Cupido, Barend M Mol, et al.
JCI Insight|February 22, 2024
The shifting lipidomic landscape of blood monocytes and neutrophils during pneumoniaAlex R Schuurman, Osoul Chouchane, Joe M Butler, et al.
Scientific Reports|December 18, 2019
R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndromeFernanda C P Mesquita, Paulo C Arantes, Tais H Kasai-Brunswick, et al.
EMBO Molecular Medicine|October 14, 2025
Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissueBauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, et al.
International Journal of Neonatal Screening|December 22, 2022
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening LaboratoriesMichael H Gelb, Khaja Basheeruddin, Alberto Burlina, et al.
HGG Advances|March 24, 2022
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial diseaseKyle Thompson, Lucas Bianchi, Francesca Rastelli, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
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