Exome
Kevin Riquin et al.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Journal of Medical Genetics 2023, vol. 61, issue 1
doi: 10.1136/jmg-2023-109263
Amandine Desette et al.
Deciphering Brain Metastasis Stem Cell Properties From Colorectal Cancer Highlights Specific Stemness Signature and Shared Molecular Features
Cellular and Molecular Gastroenterology and Hepatology 2023, vol. 16, issue 5
doi: 10.1016/j.jcmgh.2023.07.008
Mathieu Chicard et al.
Cell-Free DNA Extracted from CSF for the Molecular Diagnosis of Pediatric Embryonal Brain Tumors
Cancers 2023, vol. 15, issue 13
doi: 10.3390/cancers15133532
Lauriane Le Collen et al.
Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use
Genetics in Medicine 2023, vol. 25, issue 7
doi: 10.1016/j.gim.2023.100857
Sadia Saeed et al.
Biallelic Mutations in P4HTM Cause Syndromic Obesity
Diabetes 2023, vol. 72, issue 9
doi: 10.2337/db22-1017
Thibault Passeri et al.
The mutational landscape of skull base and spinal chordomas and the identification of potential prognostic and theranostic biomarkers
Journal of Neurosurgery 2023
doi: 10.3171/2023.1.jns222180
Gaëlle Odelin et al.
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Nature Communications 2023, vol. 14, issue 1
doi: 10.1038/s41467-023-37110-x
Alexis Dereeper et al.
Naegleria genus pangenome reveals new structural and functional insights into the versatility of these free-living amoebae
Frontiers in Microbiology 2023, vol. 13
doi: 10.3389/fmicb.2022.1056418
Tanya Stojkovic et al.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Journal of Neuromuscular Diseases 2022, vol. 10, issue 1
doi: 10.3233/jnd-221555
Nathalie Iannuccelli et al.
Rabbit targeted genomic sequences after heterologous hybridization using human exome
BMC Research Notes 2022, vol. 15, issue 1
doi: 10.1186/s13104-022-06162-5