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 ...
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 ...
1 Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada 2 Center for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario, Canada 3 ...
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 ...
4 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 5 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands 6 ...
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 ...
Dyslexia is among the most common neurodevelopmental disorders, with a prevalence of 5–12%. At the phenotypic level, various cognitive components that enable reading and spelling and that are ...
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 ...
The Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HYKS, Finland Correspondence to: Dr M Lipsanen-Nyman The Hospital for Children and Adolescents, University ...
Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been ...
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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) ...
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