Jill Urquhart - Concepedia

Author

Jill Urquhart

Also Known As

J E Urquhart, J. Urquhart, J.E. Urquhart, Jill E Urquhart, Jill E. Urquhart, Jill Urquhart, Jill E. Urquhart, Kay Metcalfe, Urquhart J, Urquhart, J

Publications

5.4K

Citations

H-Index

Concepts

All Affiliations

University of Manchester Manchester Academic Health Science Centre St Mary's Hospital St. Mary's Hospital Manchester University NHS Foundation Trust

About

Jill Urquhart is an author at University of Manchester specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	31	40	3.6K
2	Natural Sciences	5	5	304
3	Engineering	1	1	65
4	Public Health	1	1	14
5	Social Sciences	1	1	145

Jill Urquhart

Publications

5.2K

Citations

H-Index

Page 1

	Year	Citations
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans Rosemary Burgess, I. D. Millar, Bart P. Leroy, The American Journal of Human Genetics Ocular DiseaseOphthalmologyGenetic DisorderGeneticsPathology	2008	307
Germline Mutations in <i>SUFU</i> Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With <i>PTCH1</i> Mutations Miriam J. Smith, Christian Beetz, Simon G. Williams, Journal of Clinical Oncology	2014	294
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Beverley Anderson, Paul R. Kasher, Joséphine Mayer, Nature Genetics ChromatinGenome InstabilityCause CoatsGenetic DisorderGenetics	2012	285
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature Tracy A. Briggs, Gillian Rice, Sarah B. Daly, Nature Genetics Bone DiseaseRheumatologyAutoimmune DiseaseBone Morphogenic ProteinImmunology	2011	254
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, The American Journal of Human Genetics Mitochondrial FunctionGenetic DisorderMedicineGeneticsPathogenesis	2013	238
Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Arthritis & Rheumatism	2013	190
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa Alice E. Davidson, I. D. Millar, Jill Urquhart, The American Journal of Human Genetics Missense MutationsOcular DiseaseRetinaOphthalmologyPathology	2009	180
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome Yun Li, Barbara Pawlik, Nursel Elçioğlu, The American Journal of Human Genetics	2010	163
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, The American Journal of Human Genetics Developmental BiologyAmelogenesis ImperfectaMedicineGeneticsGenetic Disorder	2011	161
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Nature Genetics Neurological DisorderGenetic DisorderPathologyDegenerative DiseaseCerebral Microangiopathy Leukoencephalopathy	2016	145

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