Carl Fratter

3.1k citations

47 papers · 1.3k indexed · h-index 26

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Nephrology top 5%
- Parathyroid Disorders and Treatments

Papers in

Clinical Biochemistry 27
- Metabolism and Genetic Disorders 27
Molecular Biology 39
- Mitochondrial Function and Pathology 30
- ATP Synthase and ATPases Research 17
- DNA Repair Mechanisms 3

Co-authors: Joanna Poulton A Seller Michael G. Hanna Shamima Rahman Rajesh V. Thakker Mary G. Sweeney Cathy E. Woodward John F. Harvey
Journals: Neuromuscular Disorders (6 papers)Journal of Medical Genetics (6 papers)European Journal of Human Genetics (3 papers)Neurology (2 papers)Journal of Inherited Metabolic Disease (2 papers)
Partner nations: United Kingdom United States South Africa

In The Last Decade

Carl Fratter

46 papers receiving 1.3k citations

Peers

Countries citing papers authored by Carl Fratter

Since Specialization

Citations

This map shows the geographic impact of Carl Fratter'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 Carl Fratter with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Carl Fratter more than expected).

Fields of papers citing papers by Carl Fratter

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Carl Fratter. 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 Carl Fratter. The network helps show where Carl Fratter may publish in the future.

Co-authors

The 25 scholars most cited alongside Carl Fratter, 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 Carl Fratter Line = papers co-authored together Carl Fratter links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience Research and Practice in Thrombosis and Haemostasis ·Eman Hassan, Carl Fratter, Will Lester, Charles Percy, Walaa Saad, Afrah Alkhedir, Jayashree Motwani, P Bignell, Phillip L.R. Nicolson, Neil V. Morgan, Sandeep Potluri, Gillian Lowe	2025	0
2	OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy Journal of Clinical Investigation ·Mario K. Shammas, Xiaoping Huang, Beverly P Wu, Evelyn Fessler, Insung Y Song, Nicholas P Randolph, Yan Li, Christopher K. E. Bleck, Danielle Springer, Carl Fratter, Inês A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos López-Otı́n, Lucas T. Jae, Joanna Poulton, Derek P. Narendra	2022	41
3	EMQN best practice guidelines for genetic testing in dystrophinopathies European Journal of Human Genetics ·Carl Fratter, Raymond Dalgleish, Stephanie Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery‐Giraud, Alessandra Ferlini	2020	39
4	Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA^Lys(m.8340G>A) gene variant British Journal of Ophthalmology ·Jaidip S Gill, Steven Hardy, Emma L. Blakely, Sila Hopton, Andrea H. Németh, Carl Fratter, Joanna Poulton, Robert W. Taylor, Susan M. Downes	2017	6
5	The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations Genetics in Medicine ·Omar Hikmat, Charalampos Tzoulis, W.K. Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda Carr, Prab Prabhakar, N. Kumaraguru, Paul Gissen, J. Helen Cross, Thomas S. Jacques, Jan‐Willem Taanman, Laurence A. Bindoff, Shamima Rahman	2017	41
6	Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation Neuromuscular Disorders ·Yi Shiau Ng, Steven Hardy, Venice Shrier, Gerardine Quaghebeur, David R. Mole, Matthew J. Daniels, Susan M. Downes, Jane Freebody, Carl Fratter, Monika Hofer, Andrea H. Németh, Joanna Poulton, Robert W. Taylor	2016	5
7	A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease PLoS ONE ·Sanjeev Rajakulendran, Robert D. S. Pitceathly, Jan‐Willem Taanman, Harry Costello, Mary G. Sweeney, Cathy E. Woodward, Zane Jaunmuktane, Janice L. Holton, Thomas S. Jacques, Brian Harding, Carl Fratter, Michael G. Hanna, Shamima Rahman	2016	35
8	A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA Pharmacological Research ·Alan Diot, Alex Hinks-Roberts, Tiffany Lodge, Chunyan Liao, Eszter Dombi, Karl Morten, Stefen Brady, Carl Fratter, Janet Carver, Rebecca Muir, Ryan L. Davis, Charlotte Green, Iain G. Johnston, David Hilton‐Jones, Carolyn M. Sue, Heather Mortiboys, Joanna Poulton	2015	36
9	A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics ·Victoria Nesbitt, Charlotte L. Alston, Emma L. Blakely, Carl Fratter, Catherine Feeney, Joanna Poulton, Garry K. Brown, Douglass M. Turnbull, Robert W. Taylor, Robert McFarland	2014	43
10	Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia Brain ·Alejandro Horga, Robert D. S. Pitceathly, Julian Blake, Catherine E. Woodward, Pedro Zapater, Carl Fratter, Ese Mudanohwo, Gordon T. Plant, Henry Houlden, Mary G. Sweeney, Michael G. Hanna, Mary M. Reilly	2014	27
11	Unexplained gastrointestinal symptoms: Think mitochondrial disease Digestive and Liver Disease ·Thomas Chapman, Gina Hadley, Carl Fratter, Sue Cullen, Bridget E. Bax, Murray Bain, Robert A. Sapsford, Joanna Poulton, Simon Travis	2013	25
12	Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations Journal of Neurology Neurosurgery & Psychiatry ·Robert D. S. Pitceathly, Susan E Tomlinson, Iain P. Hargreaves, Nisha Bhardwaj, Janice L. Holton, Jasper M. Morrow, Julie Evans, Conrad Smith, Carl Fratter, Cathy E. Woodward, Mary G. Sweeney, Shamima Rahman, Michael G. Hanna	2012	13
13	Kearns–Sayre syndrome caused by defective R1/p53R2 assembly Journal of Medical Genetics ·Robert D. S. Pitceathly, Elisa Fassone, Jan‐Willem Taanman, Michael I. Sadowski, Carl Fratter, Ese Mudanohwo, C. E. Woodward, Mary G. Sweeney, Janice L. Holton, Michael G. Hanna, Shamima Rahman	2011	28
14	Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta Journal of Medical Genetics ·Jackie Marchington, Sohail Malik, Anita Banerjee, Karen Turner, David C. Samuels, Vincent Macaulay, Pippa Oakeshott, Carl Fratter, Stephen Kennedy, Joanna Poulton	2009	27
15	Mutations in the mitochondrial DNA gamma polymerase (POLG-G) may cause Alpers syndrome, mitochondrial DNA depletion and apparent non-syndromic status epilepticus: implications for valproate therapy Journal of Medical Genetics ·Neil Ashley, Sandeep Jayawant, Jeremy Parr, A O'Rourke, Chase H. Smith, Karl Morten, Susan M. Adams, Meena L. Narasimhan, Carl Fratter, Joanna Poulton	2007	1
16	Molecular genetic diagnosis of mitochondrial DNA depletion syndrome and Alpers syndrome Journal of Medical Genetics ·Carl Fratter, A O'Rourke, Jackie Marchington, Karl Morten, A Seller, Joanna Poulton	2006	1
17	Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours Clinical Endocrinology ·Karin Bradley, Branca Cavaco, Michael R. Bowl, Brian Harding, Treena Cranston, Carl Fratter, G. M. Besser, M. da Conceição Pereira, M.W.J. Davie, N.E. Dudley, Valeriano Leite, Gregory P. Sadler, A Seller, Rajesh V. Thakker	2006	83
18	Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing Genetic Testing ·Helen White, V.J. Durston, A Seller, Carl Fratter, John F. Harvey, Nicholas C.P. Cross	2005	91
19	Detection and estimation of heteroplasmy for mitochondrial mutations using NanoChip and Pyrosequencing technology ePrints Soton (University of Southampton) ·H. White, V.J. Durston, A Seller, Carl Fratter, John F. Harvey, Nicholas C.P. Cross	2004	1
20	Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases Journal of Medical Genetics ·Joanna Poulton, Marchington, Carl Fratter, A Seller, Shelley Kennedy	2001	1

About Carl Fratter

Carl Fratter is a scholar working on Clinical Biochemistry, Molecular Biology, Nephrology, Genetics and Rheumatology, having authored 47 papers that have together received 1.3k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (30 papers), Metabolism and Genetic Disorders (27 papers), ATP Synthase and ATPases Research (17 papers), Genomics and Rare Diseases (7 papers), Parathyroid Disorders and Treatments (3 papers), DNA Repair Mechanisms (3 papers), Soft tissue tumor case studies (2 papers) and Epilepsy research and treatment (2 papers). The work is most often cited by research in Clinical Biochemistry (530 citations), Nephrology (119 citations), Molecular Biology (945 citations), Neurology (151 citations) and Cellular and Molecular Neuroscience (141 citations). Carl Fratter has collaborated with scholars based in United Kingdom, United States and South Africa. Frequent co-authors include Joanna Poulton, A Seller, Michael G. Hanna, Shamima Rahman, Rajesh V. Thakker, Mary G. Sweeney, Cathy E. Woodward, John F. Harvey, Helen White and Nicholas C.P. Cross. Their work appears in journals such as Neuromuscular Disorders, Journal of Medical Genetics, European Journal of Human Genetics, Neurology and Journal of Inherited Metabolic Disease.

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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