Oliver Quarrell - Concepedia

Author

Oliver Quarrell

Also Known As

Debbie Rice, Emmanul Pica, Hellen Purnell, Nadia Peppa, Nora Shannon, O Quarrell, O W J Quarrell, O W Quarrell, O. Quarrell, O. W. J. QUARRELL

Publications

5.2K

Citations

H-Index

Concepts

All Affiliations

Sheffield Children's Hospital University of Sheffield University of Wales University of Manchester Birkbeck, University of London

About

Oliver Quarrell is an author at Sheffield Children's Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	17	1.7K
2	Education	1	1	20
3	Health Sciences	1	1	48
4	Public Health	1	1	111
5	Behavioral Sciences	1	1	111

Oliver Quarrell

Publications

Citations

H-Index

Page 1

	Year	Citations
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, The Lancet	2019	694
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics	2003	426
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome Paul Gissen, Colin A. Johnson, Neil V. Morgan, Nature Genetics Arthrogryposis–renal Dysfunction–cholestasisRenal PathologyPathologySnare-dependent Membrane FusionMembrane Biology	2004	339
Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus F. Lucy Raymond, Patrick Tarpey, Sarah Edkins, The American Journal of Human Genetics BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2007	174
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Human Genetics Pulmonary CirculationVascular MalformationPathologyPulmonary Alveolar ProteinosisPulmonary Physiology	2016	155
Risk Perception and Decision-making Processes in Candidates for Genetic Testing for Huntington’s Disease: An Interpretative Phenomenological Analysis Jonathan A. Smith, Susan Michie, Mike Stephenson, Journal of Health Psychology Genetic TestingGeneticsGenetic EpidemiologyDecision ScienceGenetic Foundation	2002	111
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Yun Li, Kathrin Laue, Samia A. Temtamy, The American Journal of Human Genetics Developmental BiologyMendelian DisorderBone Morphogenic ProteinGenetic DisorderGenetics	2010	94
EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER Oliver Quarrell, Audrey Tyler, Meena Upadhyaya, The Lancet Genetic TestingGenetic DisorderGeneticsGenetic EpidemiologyGynecology	1987	81
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. Russell G. Snell, L. Lazarou, S Youngman, Journal of Medical Genetics	1989	78
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. Jane Theilmann, S Kanani, Rita Shiang, Journal of Medical Genetics	1989	77

Page 1