Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants.
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 ...
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; ...
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; ...
Correspondence to Professor Hidenobu Soejima, Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, 849-8501, Japan; ...
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 ...
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 ...
22 Molecular Cell Biology Laboratory, Department of Internal Medicine C, Sheba Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel 23 Lund Cancer Center Department of ...
Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...
Correspondence to Dr Satomi Mitsuhashi, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo ...
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 ...
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 ...
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