Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Eugene Davydov, David L. Goode, Marina Sirota et al. · PLoS Computational Biology · 2010 · 1.9K citations · Full text

Life Sciences, Bioinformatics, Biology +17

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 272 citations

Life Sciences, Genetics, Molecular Biology +14

Detection and Characterization of Focal Liver Lesions

Tomoaki Ichikawa, Kazuhiro Saito, Naoki Yoshioka et al. · Investigative Radiology · 2010 · 233 citations

Medicine, Radiology, Diagnostic Imaging +15

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption

Ann J. Johanson, Robert M. Blizzard · The Journal of Pediatrics · 1971 · 189 citations

Medicine, Otolaryngology, Pediatrics +15

Anorectal anomalies associated with or as part of other anomalies

A. Cuschieri · American Journal of Medical Genetics · 2002 · 143 citations

Medicine, Pediatrics, Obstetric Complications +14