Diana Johnson
Sheffield Children's NHS Foundation Trust(GB)
Publications by Year
Research Areas
Merger and Competition Analysis, Law, Economics, and Judicial Systems, Crime, Illicit Activities, and Governance, European and International Contract Law, Tracheal and airway disorders
Most-Cited Works
- → Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome(2011)208 cited
- → A Course-Based Research Experience: How Benefits Change with Increased Investment in Instructional Time(2014)181 cited
- → Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome(2008)119 cited
- → A Central Support System Can Facilitate Implementation and Sustainability of a Classroom-Based Undergraduate Research Experience (CURE) in Genomics(2014)90 cited
- → Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency(2013)85 cited
- → Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders(2017)76 cited
- → Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins(2005)51 cited
- → Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia(2020)44 cited
- → Reversible male sterilization: Current status and future directions(1972)39 cited
- → Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications(2020)28 cited