Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...
A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy ...
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care ...
Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends ...
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing ...
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A ...
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...
Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...
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 ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback