Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...

Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants.

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, ...

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 ...

Correspondence to Professor Anna Tylki-Szymańska at Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, Poland; ...

The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established.

Correspondence to Dr Qing Liu, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China; drliuqing{at}126.com; Dr Mengyang Wang; ...

1 Department of Medical and Surgical Sciences for Children and Adults, Center for Rare Lung Diseases, University of Modena and Reggio Emilia, Modena, Italy 2 Respiratory Medicine Unit, Department of ...

Correspondence to Prof. Pei-Rong Ding, Department of Colorectal Surgery, Sun Yat-sen University Cancer Center, Guangzhou, China; dingpr{at}sysucc.org.cn; Prof. Zhi-Zhong Pan, Department of Colorectal ...

Correspondence to Professor Hidenobu Soejima, Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, 849-8501, Japan; ...

Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based ...

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 ...