Lesley Heptinstall

3.2k citations

19 papers · 2.5k indexed · 1 hit paper · h-index 13

Impact in

Hematology top 5%
- Iron Metabolism and Disorders
Genetics top 5%
- Hemoglobinopathies and Related Disorders

Papers in

Clinical Biochemistry 5
- Metabolism and Genetic Disorders 5
Physiology 8
- Lysosomal Storage Disorders Research 7

Co-authors: Charles R. Newton Alexander F. Markham Claire Summers John Smith Alexander Graham Stephen Joseph Powell Noor Kalsheker Jackie Imrie
Journals: Journal of Inherited Metabolic Disease (7 papers)Nucleic Acids Research (2 papers)Human Mutation (1 paper)Advances in experimental medicine and biology (1 paper)Molecular Genetics and Metabolism (1 paper)
Partner nations: United Kingdom Germany France

In The Last Decade

Lesley Heptinstall

19 papers receiving 2.4k citations

Hit Papers

align trajectories log scale

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) 1989 · 2.0k citations

Peers

Countries citing papers authored by Lesley Heptinstall

Since Specialization

Citations

This map shows the geographic impact of Lesley Heptinstall's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Lesley Heptinstall with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Lesley Heptinstall more than expected).

Fields of papers citing papers by Lesley Heptinstall

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Lesley Heptinstall. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Lesley Heptinstall. The network helps show where Lesley Heptinstall may publish in the future.

Co-authors

The 25 scholars most cited alongside Lesley Heptinstall, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Lesley Heptinstall Line = papers co-authored together Lesley Heptinstall links everyone, so they are left out of the graph.

All Works

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19 of 19 papers shown

#	Work
1	Sclerosing Mucoepidermoid Carcinoma of the Submandibular Gland Presenting as Chronic Sialadenitis: A Case Report and Review of Literature Head and Neck Pathology ·Lesley Heptinstall, 江彦希, Vasily Geyko, D Kamel, Mahir Petkar	2017	6
2	Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I Human Genome Variation ·Catherine Breen, Jean Mercer, Simon Jones, Amir Jahić, Lesley Heptinstall, Karen Tylee, William G. Newman, Christian Beetz	2016	8
3	Successful implementation of plasma oxysterol for screening of Niemann-Pick disease type C in Manchester, UK Molecular Genetics and Metabolism ·Heather J. Church, Jinyuan Tang, James A. Cooper, Karen Tylee, Lesley Heptinstall, Guo Bao-ron, Leonard D. Van Drunen, Elisabeth Jameson, Alexander Broomfield, Christian J. Hendriksz, Simon Jones	2016	3
4	Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database BMC Neurology ·Jackie Imrie, Lesley Heptinstall, Stephen R Knight, YULONDA EADIE SANO	2015	58
5	Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin European Journal of Pediatrics ·Catherine Breen, F. White, Lisa Kordos, Lesley Heptinstall, J. H. Walter, Steven A. Jones, Andrew A. M. Morris	2013	16
6	Design and validation of a metabolic disorder resequencing microarray (BRUM1) Human Mutation ·Christopher K Bruce, 大高商会, Fatima Rahman, Zhifeng Liu, Dominic McMullan, Sarah Ball, Jane Hartley, Marian A. Kroos, Lesley Heptinstall, Arnold Reuser, Arndt Rolfs, Christian J. Hendriksz, Déirdre Kelly, Timothy Barrett, Fiona MacDonald, Eamonn R. Maher, Paul Gissen	2010	13
7	The natural history of Niemann–Pick disease type C in the UK Journal of Inherited Metabolic Disease ·Jackie Imrie, Helen Veubides-Amador, G. T. N. Besley, Chris Harris, Lesley Heptinstall, Stephen R Knight, M. T. Vanier, A. H. Fensom, Chris Ward, Elizabeth Jacklin, C. Whitehouse, J. E. Wraith	2007	4
8	The natural history of Niemann–Pick disease type C in the UK Journal of Inherited Metabolic Disease ·Jackie Imrie, Yeong-Jae Kim, G. T. N. Besley, Chris Harris, Lesley Heptinstall, Stephen R Knight, M. T. Vanier, Anthony H. Fensom, Chris Ward, Elizabeth Jacklin, C. Whitehouse, J. E. Wraith	2006	102
9	Niemann–Pick disease type C in adults Journal of Inherited Metabolic Disease ·Jackie Imrie, Sánchez Rubio Raúl, C. Whitehouse, Susan S. Harris, Lesley Heptinstall, مریم بیرانوند زاده, Alan Cooper, G. T. N. Besley, J. E. Wraith	2002	61
10	A family with Leigh syndrome caused by the rarer T8993C mutation Journal of Inherited Metabolic Disease ·Anupam Chakrapani, Lesley Heptinstall, D. L. Katyal	1998	3
11	Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease) Archives of Disease in Childhood ·Elizabeth Vafiadaki, Alan Cooper, Lesley Heptinstall, C. E. Hatton, Margaret J. Thornley, J. E. Wraith	1998	62
12	Mitochondrial complex deficiencies in a male with cardiomyopathy and 3‐methylglutaconic aciduria Journal of Inherited Metabolic Disease ·G. T. N. Besley, M Lendon, D. M. Broadhead, Jan Till, Lesley Heptinstall, Blaine Phillips	1995	14
13	Common MCAD mutation in a healthy parent of two affected siblings Journal of Inherited Metabolic Disease ·Lesley Heptinstall, Jan Till, J. E. Wraith, G. T. N. Besley	1995	17
14	Galactosaemia: relationship of IQ to biochemical control and genotype Journal of Inherited Metabolic Disease ·Maureen Cleary, Lesley Heptinstall, J. E. Wraith, J. H. Walter	1995	15
15	The production of PCR products with 5′ single-stranded tails using primers that incorporate novel phosphoramidite intermediates Nucleic Acids Research ·Charles R. Newton, Maryo Baakliny, Lesley Heptinstall, Ian Hodgson, Michael D. Edge, Alexander F. Markham, Michael J. McLean	1993	19
16	A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507 Advances in experimental medicine and biology ·Martin Schwarz, Claire Summers, Lesley Heptinstall, Charles R. Newton, Alexander F. Markham, Maurice Super	1991	16
17	Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism. Journal of Medical Genetics ·Charles R. Newton, Claire Summers, Lesley Heptinstall, Jodi Lynch, Булкина Ольга Самуиловна, Donald Ogilvie, John Smith, Alexander F. Markham	1991	6
18	ΔF508 testing of the DNA bank of the Royal Manchester Children's Hospital Human Genetics ·Martin Schwarz, M Super, C. Wallis, Peter Beighton, Charles R. Newton, Lesley Heptinstall, Colin Summers, Alex Markham, G. Hambleton, K. Senga Makadi, Don Hein, D P Heaf, Mackda Ghebremariam Tesfaù	1990	17
19	Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) Nucleic Acids Research ·Charles R. Newton, Alexander Graham, Lesley Heptinstall, Stephen Joseph Powell, Claire Summers, Noor Kalsheker, John Smith, Alexander F. Markham Hit paper breakdown →	1989	2042

About Lesley Heptinstall

Lesley Heptinstall is a scholar working on Clinical Biochemistry, Physiology, Psychiatry and Mental health, Rheumatology and Oral Surgery, having authored 19 papers that have together received 2.5k indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (7 papers), Metabolism and Genetic Disorders (5 papers), Child Nutrition and Feeding Issues (4 papers), Mitochondrial Function and Pathology (3 papers), Cystic Fibrosis Research Advances (3 papers), Folate and B Vitamins Research (3 papers), Carbohydrate Chemistry and Synthesis (2 papers) and Genomics and Rare Diseases (2 papers). The work is most often cited by research in Hematology (318 citations), Genetics (273 citations), Clinical Biochemistry (141 citations), Molecular Biology (1.1k citations) and Cancer Research (226 citations). Lesley Heptinstall has collaborated with scholars based in United Kingdom, Germany and France. Frequent co-authors include Charles R. Newton, Alexander F. Markham, Claire Summers, John Smith, Alexander Graham, Stephen Joseph Powell, Noor Kalsheker, Jackie Imrie, Stephen R Knight and G. T. N. Besley. Their work appears in journals such as Journal of Inherited Metabolic Disease, Nucleic Acids Research, Human Mutation, Advances in experimental medicine and biology and Molecular Genetics and Metabolism.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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