Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...

Background: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic ...

Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience ...

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada Correspondence to: Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, ...

4 Department of Pulmonology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 5 Department of Otolaryngology, Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, ...