Morison LD, Kennis MG, Rots D, et al. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Journal of Medical Genetics 2024;61:578-585.. This article has ...

Methods We collected 11 whole placentas carrying various mtDNA mutations (m.3243A>G, m.8344A>G, m.8993T>G, m.9185T>C and m.10197G>A) and, when possible, corresponding amniotic fluid samples (AFSs) and ...

Background Advances in prostate cancer (PCa) research have revealed dozens of genetic markers for inherited risk. Germline genetic testing (GGT) enhances patient care by guiding therapeutic decisions ...

Mutations affecting over 2000 of the 20 000 or so genes in the human genome have been linked so far to specific inherited diseases, most of which are rare and have been poorly understood. Many of the ...

Background T cell dysfunction occurs in many diseases, especially in chronic virus infection and cancers. However, up to now, little is known on the distinctions in T cell exhaustion between cancer ...

Immunotherapy has emerged as one of the most promising therapeutic strategies in cancer. The clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein 9 (CRISPR-Cas9) system ...

Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...

Immunotherapy has emerged as one of the standard treatment modalities against cancer along with surgery, radiotherapy, chemotherapy and targeted therapy. Cancer immunotherapy harnesses the immune ...

Background Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial ...

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations ...

Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, ...