Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
Epithelial cell adhesion molecule (EPCAM)-associated Lynch syndrome arises from deletions at the 3ā²-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause ...
Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based ...
8 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France 9 Laboratoire de génétique chromosomique et moléculaire, CHU ...
Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...
Mosaic neurofibromatosis type 1 (NF1) poses a significant diagnostic challenge due to low-level mosaicism and the confinement of pathogenic variants to neuroectodermal lineages, frequently resulting ...
Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providersā genetic literacy and an ambiguous lexicon for variant description may hinder ...
Methods Whole-exome sequencing was performed in two individuals with skeletal developmental abnormalities and identified biallelic DNAH10 variants. In vitro assays were used to assess the effects of ...
Background Establishing best practice recommendations helps to increase consistency, equity and innovation in clinical genomics services. Bioinformatics approaches are a core component of clinical ...
Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain ...
16 State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and School of Basic Medical Scienceļ¼Fudan University, Shanghai, China 17 Shanghai Key Lab of Birth Defect, Children's ...
As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...
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