Background Mainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA ...

Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...

Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, ...

4 Istituto di Genetica e Biofisica “A. Buzzati-Traverso”, CNR, Napoli, Italy Correspondence to Giovanni Neri, Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico “A.Gemelli”, ...

4 Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia Correspondence to Professor Samuel F Berkovic, Department of Medicine, Epilepsy Research Centre, ...

Correspondence to: Dr A V Ivanova Laboratory of Immunobiology, Basic Research Program, SAIC-Frederick Inc, NCI-Frederick, Maryland 21702, USA; ivanovamail.ncifcrf.gov Background: STRA13 is a bHLH ...

35 Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain This is an open access article ...

Partial trisomy of the long arm of chromosome 19q is an uncommon aneusomy and has been reported in only 18 cases. Fourteen of these were the result of unbalanced translocations. Only four cases were ...

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 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...

‡Department of Paediatrics, Royal Preston Hospital, Preston PR2 9HT, UK Dr Slavotinek, National Human Genome Research Institute, National Institutes of Health, Room 4B75, Bldg 49, 49 Convent Drive, ...

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 ...