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Microbiology Spectrum|November 10, 2022
Genetic Study of SARS-CoV-2 Non Structural Protein 12 in COVID-19 Patients Non Responders to RemdesivirMarta Santos Bravo, Rodrigo Alonso, Dafne Soria, et al.
Cardiovascular Research|January 9, 2026
Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysmMilène Freneau, Raphael Blanchet, Maxence Bodet, et al.
Biorxiv : the Preprint Server for Biology|October 1, 2025
Lamin A/C Deficiency Drives Genomic Instability and Poor Survival in Small-Cell Lung Cancer through Increased R-loop AccumulationChristopher W Schultz, Sourav Saha, Anjali Dhall, et al.
Molecular Psychiatry|August 26, 2015
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's diseaseG Nicolas, C Charbonnier, D Wallon, et al.
Circulation Research|June 7, 2021
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated DiscsGerard A Marchal, Mariam Jouni, David Y Chiang, et al.
Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Scientific Reports|January 7, 2015
Selective blockade of the hydrolysis of the endocannabinoid 2-arachidonoylglycerol impairs learning and memory performance while producing antinociceptive activity in rodentsGuy Griebel, Philippe Pichat, Sandra Beeské, et al.
Prenatal Diagnosis|December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case seriesMarion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
American Journal of Human Genetics|November 26, 2013
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosisSandra Mercier, Sébastien Küry, Gasnat Shaboodien, et al.
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