Jill Urquhart
University of Manchester(GB)
Publications by Year
Research Areas
RNA modifications and cancer, Mitochondrial Function and Pathology, Retinal Development and Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans(2008)309 cited
- → Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations(2014)296 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)286 cited
- → Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature(2011)254 cited
- → Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease(2013)238 cited
- → Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation(2013)190 cited
- → Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa(2009)182 cited
- → LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome(2010)164 cited
- → Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome(2011)161 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited