Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain ...
Background SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit ...
Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Background Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting ...
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 ...
Background and objectives Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The ...
1 Public Health Genetics Program, University of Washington, Seattle, WA 98195, USA 2 Department of Pathology, University of Washington, Seattle, WA 98195, USA 3 Department of Medicine, University of ...
Correspondence to Dr Alessandro Mussa, Department of Public Health and Pediatrics, University of Torino, 10126 Torino, Italy; alessandro.mussa{at}unito.it Background Most cases of Beckwith-Wiedemann ...
1 University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy 2 University of Roma “La Sapienza” ...
3 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK Methods An international group of experts created ...
Correspondence to Dr Adriana M Montaño, Doisy Research Center, Department of Pediatrics, Saint Louis University, 1100 South Grand Blvd., Room 311, St. Louis, MO 63104, USA; montana{at}slu.edu ...
Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
Correspondence to Dr Christian P Schaaf, Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Baylor College of Medicine, 1250 ...
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