1 Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Room 7022, Executive Plaza South, 6120 Executive Blvd, Rockville, MD 20852, USA 2 Department ...

3 NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

2 Department of Molecular Haematology and Cancer Biology, UCL Genomics, UCL Institute of Child Health, London, UK Background Clinical interpretation of the large number of rare variants identified by ...

Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to ...

Background Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...

1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...

Correspondence to Professor Barbara Plecko, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria; barbara.plecko{at}medunigraz.at; Dr Katta M Girisha, Department ...

Correspondence to Dr Hidenobu Soejima, Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga 849-8501, Japan; soejimah{at}cc.saga ...