1A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family2026 · DOAJ
2SOX17 as a candidate gene for ovarian dysgenesis: functional characterisation of a novel homozygous variant2026 · DOAJ
4Caloric restriction reprograms skeletal muscle molecular pathways in non-human primates: potential relevance to human aging biology2026 · DOAJ
7The relationship between schizophrenia polygenic scores, blood-based proteins and psychosis diagnosis in the UK Biobank2026 · DOAJ
8Health-related quality of life and visual function in retinoblastoma survivors with ocular prostheses: a cross-sectional study2026 · DOAJ
9Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome2026 · DOAJ
10Correction: Population-based screening for Lynch syndrome in patients with colorectal cancer: implementing the NICE diagnostic pathway2026 · DOAJ
11Special approach of droplet digital polymerase chain reaction (ddPCR) for transgene stability of a Chinese hamster ovary (CHO) cell line2026 · DOAJ
12Correction: Combinational therapeutic strategies to overcome resistance to immune checkpoint inhibitors2026 · DOAJ
13Integrating biological pathway polygenic scores and trauma in psychosis: findings from the EU-GEI study2026 · DOAJ
16CRISPR activation (CRISPRa) systems for the upregulation of endogenous genes involved in pancreatic beta-cell regeneration and insulin sensitivity: a novel approach for type 2 diabetes treatment2026 · DOAJ
17Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins2026 · DOAJ
18Patient, parent and provider perspectives on sickle cell disease genetics research in Jamaica.2026 · DOAJ
20Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature2026 · DOAJ
21Willingness to accept and pay for expanded new-generation non-invasive prenatal testing in China: a web-based cross-sectional survey2026 · DOAJ
22Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants2026 · DOAJ
23Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes2026 · DOAJ
24Pangenome variation analysis uncovers the impacts of SNP‐independent structural variations in modern European cattle breeding2026 · DOAJ
26The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities2026 · DOAJ
27Addressing genetic diversity and health inequities: RELIVAF’s proposal for Latin American pharmacogenomic guidelines2026 · DOAJ
28Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine2026 · DOAJ
29COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review2026 · DOAJ
30GANAB-related Polycystic Kidney Disease Mimicking the Cutaneous Findings of Neurofibromatosis Type 12026 · DOAJ
31Beyond First-Degree Relatives: Unlocking the Genetic Insights from Extended Family History2026 · DOAJ
34Genetic Overlap Between Dilated Cardiomyopathy and Neurological Disorders: Insights from a Next-Generation Sequencing Study2026 · DOAJ
35Multicolor detection of chronic myeloid leukemia stem cells, including novel marker CD69, predicts survival and early hematological toxicity2026 · DOAJ
36Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures2026 · DOAJ
37Human induced pluripotent stem cell-derived microglia with 1q21.1 deletion and duplication exhibit aberrant inflammatory response2026 · DOAJ
38Mapping wastewater pathogens and their associated environmental and public health risk factors: a systematic review and meta-analysis2026 · DOAJ
39Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseases2026 · DOAJ
42Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model2026 · DOAJ
43Causal effect of hyperglycaemia on hearing loss: a two-sample Mendelian randomisation study2026 · DOAJ
44A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment2026 · DOAJ
45Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing2026 · DOAJ
46The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene2026 · DOAJ
47Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)2026 · DOAJ
48RBM20 isoform regulation by independent transcription start sites adapts alternative splicing in development and disease2026 · DOAJ
49The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome2026 · DOAJ
50Disruption of Mitophagy-Related Gene Expression in Gestational Diabetes Mellitus: A Transcriptomic and Machine Learning Approach2026 · DOAJ
51Elucidating shared genetic signals between type 2 diabetes and three neurodegenerative dementia phenotypes2026 · DOAJ
53Central nervous system involvement in CLL: an international retrospective study by ERIC, the European Research Initiative on CLL2026 · DOAJ
54Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease2026 · DOAJ
55Genome-wide association studies to identify shared and distinct mechanisms of fibrosis across 12 organ systems2026 · DOAJ
56Population-based screening for Lynch syndrome in patients with colorectal cancer: implementing the NICE diagnostic pathway2026 · DOAJ
58From qPCR to Next-Generation Sequencing: Practical Strategies for Resource-Limited Molecular Laboratories.2026 · DOAJ
59Navigating the complexities of dual CNV findings: a case of DEE7 caused by a de novo KCNQ2 deletion and a Co-occurring chromosome 13 duplication – a case report and literature review2026 · DOAJ
60Association between childhood ADHD problems and premature mortality: identifying modifiable cardiovascular mechanisms in a UK population cohort2026 · DOAJ