If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes ...

12 NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Correspondence to Dr Andrea Poretti, Section of Pediatric Neuroradiology, Division of ...

Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...

Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...

The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...

Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant muscular disorder mainly caused by the contraction and hypomethylation of the D4Z4 repeat array in chromosome 4q35.

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...

Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch ...