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

Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.

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; ...

Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...

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 ...

Institut für Humangenetik und Anthropologie, University of Freiburg, Germany. Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype ...

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes ...

Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).

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; ...

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 ...

a Servicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, b Department of Cellular Biology, Universidad Complutense, Madrid, Spain If you wish to reuse any or all of ...