1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants.
Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...
4 Istituto di Genetica e Biofisica “A. Buzzati-Traverso”, CNR, Napoli, Italy Correspondence to Giovanni Neri, Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico “A.Gemelli”, ...
1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study ...
Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
Division of Biomedical Sciences, University of California Riverside, California, USA Dr D Ethell, Biomedical Sciences, University of California, 900 University Ave, Riverside, CA 92521-0121, USA; doug ...
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 ...
Correspondence to Dr Teresa Esposito, Istituto di Genetica e Biofisica Adriano Buzzati Traverso,Consiglio Nazionale delle Ricerche, Via Pietro Castellino 111, 80131, Napoli, Italy.; teresa.esposito{at ...
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
1 Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA 2 Medical Genetics Branch, National Human Genome Research Institute, ...
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