Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...

Correspondence to Dr Jennifer M Kalish, Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA; kalishj ...

1 Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands 2 Department of Human and Clinical Genetics, Leiden University ...

An association between the occurrence of club foot and early amniocentesis has been reported. The largest of these randomised studies was the Canadian Early and Mid-Trimester Amniocentesis Trial. Data ...

Correspondence to Dr Olivier Duverger, Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA; olivier.duverger{at}nih.gov; Dr ...

Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...