Rosenski J, Peretz A, Magenheim J, Loyfer N, Shemer R, Glaser B
Nat Commun. 2025; 16(1):2141.
PMID: 40069157
PMC: 11897249.
DOI: 10.1038/s41467-025-57433-1.
Hansen K, Jorgensen S, Comert C, Schiottz-Christensen B, Bross P, Agergaard J
J Med Virol. 2025; 97(3):e70275.
PMID: 40025839
PMC: 11873671.
DOI: 10.1002/jmv.70275.
Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E
Nature. 2025; .
PMID: 40011789
DOI: 10.1038/s41586-025-08623-w.
Miya F, Kosaki K
BMC Res Notes. 2025; 18(1):79.
PMID: 39984965
PMC: 11844088.
DOI: 10.1186/s13104-025-07152-z.
Jeong R, Bulyk M
medRxiv. 2025; .
PMID: 39974057
PMC: 11838631.
DOI: 10.1101/2025.01.30.25321274.
Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.
Gupta A, Jayasinghe K, Majmundar A, Mann N, Sinha R, Sampson M
Pediatr Nephrol. 2025; .
PMID: 39945861
DOI: 10.1007/s00467-025-06697-2.
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam W, Lau C, Luk H, Au L, Chan G, Chan W
Lancet Reg Health West Pac. 2025; 55:101473.
PMID: 39944418
PMC: 11814671.
DOI: 10.1016/j.lanwpc.2025.101473.
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M, Wang M, Snell P, Lee W, DArcy C, Mignone C
Brain Commun. 2025; 7(1):fcaf034.
PMID: 39926610
PMC: 11806418.
DOI: 10.1093/braincomms/fcaf034.
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
Shin J, Fujiwara T, Saitsu H, Yamaguchi A
BMC Med Inform Decis Mak. 2025; 25(Suppl 1):59.
PMID: 39910609
PMC: 11800421.
DOI: 10.1186/s12911-025-02910-2.
Whole genome sequencing in early onset advanced heart failure.
Linner E, Czuba T, Gidlof O, Lundgren J, Bollano E, Hellberg M
Sci Rep. 2025; 15(1):4306.
PMID: 39910139
PMC: 11799378.
DOI: 10.1038/s41598-025-88465-8.
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Schwarz J, Becker L, Wahle M, Fassbender J, Thomale U, Tietze A
Int J Mol Sci. 2025; 26(2.
PMID: 39859528
PMC: 11766355.
DOI: 10.3390/ijms26020815.
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Mendez-Vidal C, Bravo-Gil N, Perez-Florido J, Marcos-Luque I, Fernandez R, Fernandez-Rueda J
J Transl Med. 2025; 23(1):86.
PMID: 39833864
PMC: 11748347.
DOI: 10.1186/s12967-025-06069-2.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A
Nat Med. 2025; 31(2):478-489.
PMID: 39825153
PMC: 11835725.
DOI: 10.1038/s41591-024-03420-w.
Efficient reinterpretation of rare disease cases using Exomiser.
Vestito L, Jacobsen J, Walker S, Cipriani V, Harris N, Haendel M
NPJ Genom Med. 2024; 9(1):65.
PMID: 39695184
PMC: 11655964.
DOI: 10.1038/s41525-024-00456-2.
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.
Krause J, Classen C, Dey D, Lausberg E, Kessler L, Eggermann T
BMC Bioinformatics. 2024; 25(1):376.
PMID: 39690401
PMC: 11650836.
DOI: 10.1186/s12859-024-06010-2.
Evolution of virtual gene panels over time and implications for genomic data re-analysis.
Robertson A, Tran K, Patel C, Sullivan C, Stark Z, Waddell N
Genet Med Open. 2024; 1(1):100820.
PMID: 39669234
PMC: 11613599.
DOI: 10.1016/j.gimo.2023.100820.
Prematurity and Genetic Liability for Autism Spectrum Disorder.
Zhang Y, Yahia A, Sandin S, Aden U, Tammimies K
medRxiv. 2024; .
PMID: 39606368
PMC: 11601743.
DOI: 10.1101/2024.11.20.24317613.
Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.
Mir R, Altemani F, Altemani F, Algehainy N, Alanazi M, Elfaki I
Biochem Genet. 2024; .
PMID: 39557769
DOI: 10.1007/s10528-024-10970-8.
Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline.
Artaza H, Lavrichenko K, Wolff A, Royrvik E, Vaudel M, Johansson S
BMC Bioinformatics. 2024; 25(1):357.
PMID: 39548362
PMC: 11566566.
DOI: 10.1186/s12859-024-05979-0.
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.
Legebeke J, Wheway G, Baker L, Wai H, Walker W, Thomas N
Hum Mol Genet. 2024; 34(2):148-160.
PMID: 39536325
PMC: 11780860.
DOI: 10.1093/hmg/ddae164.