Background The availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain ...
Background MECOM encodes a developmental and haematopoietic transcription factor associated with a rare early-onset syndrome including bone marrow failure, skeletal and other congenital anomalies.
An exciting new partnership will strengthen the exchange of knowledge and innovation in genetic and genomic medicine; As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the ...
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
Background Distinguishing genetic variants that cause disease from variants that are rare but benign is one of the principal challenges in contemporary clinical genetics, particularly as variants are ...
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
1 Centre for Community Child Health, Royal Children’s Hospital, Parkville, Victoria, Australia 2 Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia ...
Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) ...
2 International Institute of Molecular and Cell Biology, Warsaw, Poland Correspondence to Dr Małgorzata Kurkowiak, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish ...
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