Thomas Cullup

2.9k citations

24 papers · 615 indexed · h-index 15

Impact in

Genetics top 10%
- Neurogenetic and Muscular Disorders Research
- Genetic and Kidney Cyst Diseases
Cardiology and Cardiovascular Medicine top 10%
- Cardiomyopathy and Myosin Studies

Papers in ⓘ

Molecular Biology 20
- Muscle Physiology and Disorders 7
- Mitochondrial Function and Pathology 4
- RNA regulation and disease 3
- RNA modifications and cancer 3
Genetics 11
- Genetic and Kidney Cyst Diseases 4
- Neurogenetic and Muscular Disorders Research 4

Co-authors: Caroline A. Sewry (5 shared papers)Heinz Jungbluth (8 shared papers)S. Robb (3 shared papers)Adnan Y. Manzur (3 shared papers)Stephen Abbs (5 shared papers)Lorenzo Maggi (3 shared papers)Francesco Muntoni (2 shared papers)Mariacristina Scoto (2 shared papers)
Journals: Neuromuscular Disorders (6 papers)Clinical Genetics (2 papers)Journal of the American Academy of Dermatology (1 paper)JAMA Network Open (1 paper)European Journal of Human Genetics (1 paper)
Partner nations: United Kingdom United States Italy

In The Last Decade

Thomas Cullup

24 papers receiving 601 citations

Peers

Countries citing papers authored by Thomas Cullup

Since Specialization

Citations

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

Fields of papers citing papers by Thomas Cullup

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 24 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom Neuromuscular Disorders ·Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak, S. Robb, Andrea Klein, Suzanne Lillis, Thomas Cullup, L. Feng, Adnan Y. Manzur, Caroline A. Sewry, Stephen Abbs, Heinz Jungbluth, Francesco Muntoni	2013	96
2	Congenital myopathies Neurology ·Irene Colombo, Mariacristina Scoto, Adnan Y. Manzur, S. Robb, Lorenzo Maggi, Vasantha Gowda, Thomas Cullup, Michael Yau, Rahul Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni	2014	85
3	Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement Neuromuscular Disorders ·Thomas Cullup, Phillipa J. Lamont, Sebahattin Çirak, Maxwell S. Damian, William Wallefeld, Rebecca Gooding, S. Veronica Tan, Jennie Sheehan, Francesco Muntoni, Stephen Abbs, Caroline A. Sewry, Victor Dubowitz, Nigel G. Laing, Heinz Jungbluth	2012	54
4	Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis PLoS ONE ·Ebun Omoyinmi, Ariane Standing, Annette Keylock, Fiona Price-Kuehne, Sónia Gomes, Dorota Rowczenio, Sira Nanthapisal, Thomas Cullup, Rodney Nyanhete, Emma Ashton, Claire Murphy, Megan A. Clarke, Helena Ahlfors, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul Brogan	2017	52
5	C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia The American Journal of Human Genetics ·Mahmoud R. Fassad, Amelia Shoemark, Pierrick Le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M.K. Chung, Michel Lemullois, Anne Aubusson‐Fleury, Claire Hogg, David R. Mitchell, Anne‐Marie Tassin, Hannah M. Mitchison	2018	48
6	Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 Neuromuscular Disorders ·Emma Clement, L. Feng, R. Mein, Caroline A. Sewry, S. Robb, Adnan Y. Manzur, Eugenio Mercuri, C. Godfrey, Thomas Cullup, Stephen Abbs, Francesco Muntoni	2012	41
7	Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy American Journal of Medical Genetics Part A ·Verity M. McClelland, Thomas Cullup, István Bódi, Deborah Ruddy, Anna Buj‐Bello, Valérie Biancalana, Jesse S. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Enrique Amaya, J Q Trounce, Jocelyn Laporte, Shehla Mohammed, Caroline A. Sewry, Julian Raiman, Heinz Jungbluth	2010	35
8	Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer Gynecologic Oncology ·Philippe Van Trappen, Thomas Cullup, R. Troke, David A. Swann, J. H. Shepherd, Ian Jacobs, S. Gayther, Charles A. Mein	2006	34
9	Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11 European Respiratory Journal ·Amelia Shoemark, Thomas Burgoyne, Robert Kwan, Mellisa Dixon, Mitali Patel, Andrew Rogers, Alexandros Onoufriadis, Juliet Scully, Farheen Daudvohra, Thomas Cullup, Michael R. Loebinger, Robert Wilson, Eddie M.K. Chung, Andrew Bush, Hannah M. Mitchison, Claire Hogg	2018	29
10	A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly Clinical Genetics ·Miho Ishida, Thomas Cullup, C. R. Boustred, Chela James, James Docker, Carol English, (unknown), Nicholas Lench, Andrew J. Copp, Gudrun E. Moore, Nicholas D. E. Greene, Philip Stanier	2017	22
11	Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis British Journal of Dermatology ·Anna Thomas, Claire Sinclair, Nadiya Mahmud, Thomas Cullup, Jemima E. Mellerio, John Harper, Beverly A. Dale, Claude Turc‐Carel, Daniel Hohl, John A. McGrath, Anders Vahlquist, Maritta Hellström-Pigg, Agneta Gånemo, K. Metcalfe, Charles A. Mein, Edel A. O’Toole, David P. Kelsell	2007	20
12	Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era Neurology Genetics ·Patrick Forny, Emma Footitt, James Davison, Amanda Lam, Cathy E. Woodward, Spyros Batzios, Sanjay Bhate, Anupam Chakrapani, Maureen Cleary, Paul Gissen, Stephanie Grünewald, Jane A. Hurst, Richard H. Scott, Simon Heales, Thomas S. Jacques, Thomas Cullup, Shamima Rahman	2021	16
13	Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation JAMA Network Open ·Dara McCreary, Ebun Omoyinmi, Ying Hong, Ciara Mulhern, Charalampia Papadopoulou, Marina Casimir, Yael Hacohen, Rodney Nyanhete, Helena Ahlfors, Thomas Cullup, Ming Lim, Kimberly Gilmour, Kshitij Mankad, Evangeline Wassmer, Stefan Berg, Cheryl Hemingway, Paul Brogan, Despina Eleftheriou	2019	16
14	Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia Clinical Genetics ·Mahmoud R. Fassad, Walaa Shoman, Heba Morsy, Mitali Patel, Nesrine Radwan, Lucy Jenkins, Thomas Cullup, Eman Mahmoud Fouda, Hannah M. Mitchison, Nader Fasseeh	2019	15
15	Clinical utility gene card for: Vici Syndrome European Journal of Human Genetics ·Thomas Cullup, Carlo Dionisi‐Vici, Ay Lin Kho, Shu Yau, Shehla Mohammed, Mathias Gautel, Heinz Jungbluth	2013	14
16	X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10 Neuromuscular Disorders ·N Trump, Thomas Cullup, Joanne Verheij, Adnan Manzur, Francesco Muntoni, Stephen Abbs, Heinz Jungbluth	2011	9
17	A practical approach to the genomics of kidney disorders Pediatric Nephrology ·Eleanor Hay, Thomas Cullup, Angela Barnicoat	2021	8
18	Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid JIMD Reports ·Martina Messina, Emanuela Manea, Thomas Cullup, Karin Tuschl, Spyros Batzios	2022	7
19	Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia Clinical Dysmorphology ·Edward Steel, Jane A. Hurst, Thomas Cullup, Alistair Calder, Branavan Sivakumar, Pratik Shah, Louise C. Wilson	2019	3
20	SAT0010 A Targeted Next-Generation Sequencing Gene Panel for Autoinflammation Annals of the Rheumatic Diseases ·Ebun Omoyinmi, Ariane Standing, Annette Keylock, DM Rowczenio, Sónia Gomes, Thomas Cullup, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen J. Lachmann, Philip N. Hawkins, Nigel Klein, Paul Brogan	2016	3

About Thomas Cullup

Thomas Cullup is a scholar working on Molecular Biology, Genetics, Genetics, Pulmonary and Respiratory Medicine and Cardiology and Cardiovascular Medicine, having authored 24 papers that have together received 615 indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (7 papers), Genetic and Kidney Cyst Diseases (4 papers), Neurogenetic and Muscular Disorders Research (4 papers), Mitochondrial Function and Pathology (4 papers), Cystic Fibrosis Research Advances (3 papers), Cardiomyopathy and Myosin Studies (3 papers), RNA regulation and disease (3 papers) and RNA modifications and cancer (3 papers). The work is most often cited by research in Genetics (139 citations), Cardiology and Cardiovascular Medicine (164 citations), Molecular Biology (434 citations), Cell Biology (83 citations) and Genetics (130 citations). Thomas Cullup has collaborated with scholars based in United Kingdom, United States and Italy. Frequent co-authors include Caroline A. Sewry, Heinz Jungbluth, S. Robb, Adnan Y. Manzur, Stephen Abbs, Lorenzo Maggi, Francesco Muntoni, Mariacristina Scoto, Sebahattin Çirak and L. Feng. Their work appears in journals such as Neuromuscular Disorders, Clinical Genetics, Journal of the American Academy of Dermatology, JAMA Network Open and European Journal of Human Genetics.

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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