Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
Correspondence to Professor Dr Leena Bruckner-Tuderman, Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany; bruckner-tuderman{at}uniklinik-freiburg.de ...
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
Background Although rare missense variants in Mendelian disease genes often cluster in specific regions of proteins, it is unclear how to consider this when evaluating the pathogenicity of a gene or ...
Background Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA binding domain, ACBD5 has been ...
3 Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 4 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The ...
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...
Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...
Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.
Epithelial cell adhesion molecule (EPCAM)-associated Lynch syndrome arises from deletions at the 3′-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause ...
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 ...
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