Background The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese ...
Correspondence to Luke C Pilling, Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, EX1 2LU, UK; L.Pilling{at}exeter.ac.uk; Luigi Ferrucci, Translational Gerontology Branch ...
Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...
1 Department of Gastroenterology, University Medical Centre, Nijmegen, The Netherlands 2 Department of Obstetrics and Gynaecology, University Medical Centre, Nijmegen, The Netherlands 3 Department of ...
8 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that ...
Kennedy Galton Centre for Clinical Genetics, Radlett, Hertfordshire. Four infants who were exposed to sodium valproate or valproic acid during pregnancy are described. Common facial features in the ...
Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA K H Kraemer, DNA Repair Section, Basic Research ...
Correspondence to Dr Minna Männikkö, Northern Finland Birth Cohort Studies, Faculty of Medicine, Aapistie 5 / P.O. Box 5000, 90014 University of Oulu, Finland; minna.ruddock{at}oulu.fi Background Low ...
Correspondence to Dr Umut Altunoglu, Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey; ualtunoglu{at}ku.edu.tr Methods We conducted molecular studies in 46 ...
Correspondence to Dr Daryl A Scott, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; dscott{at}bcm.edu Background Congenital diaphragmatic hernia (CDH) ...
Background von Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both benign and malignant tumours in multiple organs. Recent evidence ...
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...
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