Eiko Yamakawa P, Perez Gomes C, Ribeiro Mendes A, Cesar Justino de Oliveira C, Porto Freitas F, Bettoni F
Front Med (Lausanne). 2025; 12:1472186.
PMID: 40066167
PMC: 11891177.
DOI: 10.3389/fmed.2025.1472186.
Nguyen K, Dien T, Can T, Thao B, Do T, Dang T
Int J Mol Sci. 2025; 26(4).
PMID: 40004108
PMC: 11855759.
DOI: 10.3390/ijms26041644.
Yadav M, Kumar M, Dhull C, Sachdeva S, Bhardwaj A, Yadav A
Jpn J Ophthalmol. 2025; .
PMID: 39998747
DOI: 10.1007/s10384-025-01173-8.
Ranjan P, Devi C, Verma N, Bansal R, Srivastava V, Das P
Biochem Genet. 2025; .
PMID: 39985697
DOI: 10.1007/s10528-025-11064-9.
Bergson S, Sarig O, Giladi M, Mohamad J, Mogezel-Salem M, Smorodinsky-Atias K
J Exp Med. 2025; 222(5).
PMID: 39976600
PMC: 11841684.
DOI: 10.1084/jem.20240827.
Identifying somatic driver mutations in cancer with a language model of the human genome.
Zeng G, Zhao C, Li G, Huang Z, Zhuang J, Liang X
Comput Struct Biotechnol J. 2025; 27:531-540.
PMID: 39968174
PMC: 11833646.
DOI: 10.1016/j.csbj.2025.01.011.
Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.
Ammar M, Kmiha S, Maalej M, Felhi R, Kharrat M, Alila-Fersi O
Ann Hematol. 2025; .
PMID: 39961824
DOI: 10.1007/s00277-025-06259-4.
Insights Into Genetic Variations of the Gene in Metformin Poor Responders Among Bangladeshi Type 2 Diabetic Patients.
Begum R, Das A, Alam M, Sultana G
Adv Pharmacol Pharm Sci. 2025; 2025:8568658.
PMID: 39949862
PMC: 11824854.
DOI: 10.1155/adpp/8568658.
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M, Shi Y, Lin L, Wang L, Zhu X, Xiong J
Front Genet. 2025; 16:1475054.
PMID: 39931731
PMC: 11808037.
DOI: 10.3389/fgene.2025.1475054.
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.
Genomics of pediatric cardiomyopathy.
Lee T, Ware S, Kamsheh A, Bhatnagar S, Absi M, Miller E
Pediatr Res. 2025; .
PMID: 39922924
DOI: 10.1038/s41390-025-03819-2.
Exploring breast cancer associated-gene panel for next-generation sequencing and identifying new, pathogenic variants in breast cancer from western China.
Cheng J, Song B, Wei C, Zhang L, Liu X, Yang L
J Cancer. 2025; 16(4):1281-1295.
PMID: 39895796
PMC: 11786033.
DOI: 10.7150/jca.101911.
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
Qin Y, Senglong M, Touch K, Xiao J, Fang R, Kang Q
BMC Genomics. 2025; 26(1):82.
PMID: 39875822
PMC: 11773888.
DOI: 10.1186/s12864-025-11277-7.
Association between ABCB4 variants and intrahepatic cholestasis of pregnancy.
Zhang D, Li Y, He S, Shu J, Li T, Sun Q
Sci Rep. 2025; 15(1):3300.
PMID: 39865141
PMC: 11770179.
DOI: 10.1038/s41598-025-87909-5.
Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.
Do T, Vu C, Dien T, Can T, Nguyen T, Nguyen H
J Clin Med. 2025; 14(2.
PMID: 39860331
PMC: 11765834.
DOI: 10.3390/jcm14020325.
Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.
Lee Y, Kim Y, Chae W, Kim S, Kim J
Genes (Basel). 2025; 16(1).
PMID: 39858559
PMC: 11764847.
DOI: 10.3390/genes16010012.
A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
Cohen A, Rossetti R, Florsheim N, Samson A, Renbaum P, Carbone E
J Endocr Soc. 2025; 9(2):bvae221.
PMID: 39850788
PMC: 11756294.
DOI: 10.1210/jendso/bvae221.
DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.
Wu D, Chen R, Zhang J, Yan W, Chen M, Xia D
Ital J Pediatr. 2025; 51(1):9.
PMID: 39849549
PMC: 11756179.
DOI: 10.1186/s13052-025-01839-6.
An ensemble machine learning-based performance evaluation identifies top In-Silico pathogenicity prediction methods that best classify driver mutations in cancer.
Das S, Patel V, Chakravarty S, Ghosh A, Mukhopadhyay A, Biswas N
BioData Min. 2025; 18(1):7.
PMID: 39833905
PMC: 11744934.
DOI: 10.1186/s13040-024-00420-x.
Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
Morison L, Whiteman I, Vogel A, Tilbrook L, Fahey M, Braden R
J Inherit Metab Dis. 2025; 48(1):e12838.
PMID: 39821609
PMC: 11739554.
DOI: 10.1002/jimd.12838.
