Claire E. L. Smith

1.5k citations

25 papers · 835 indexed · h-index 14

Impact in

Rheumatology top 2%
- Bone and Dental Protein Studies
Urology top 5%
- Periodontal Regeneration and Treatments

Papers in

Rheumatology 17
- Bone and Dental Protein Studies 17
Urology 5
- Periodontal Regeneration and Treatments 5

Co-authors: Alan J. Mighell James A. Poulter Chris F. Inglehearn Steven J. Brookes Jennifer Kirkham Colin A. Johnson Agne Antanaviciute David Parry
Journals: Human Molecular Genetics (5 papers)European Journal of Human Genetics (2 papers)Journal of Medical Genetics (2 papers)Human Mutation (2 papers)The American Journal of Human Genetics (2 papers)
Partner nations: United Kingdom Costa Rica United States

In The Last Decade

Claire E. L. Smith

24 papers receiving 826 citations

Peers

Countries citing papers authored by Claire E. L. Smith

Since Specialization

Citations

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

Fields of papers citing papers by Claire E. L. Smith

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Claire E. L. Smith. 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 Claire E. L. Smith. The network helps show where Claire E. L. Smith may publish in the future.

Co-authors

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

All Works

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20 of 20 papers shown

#	Work
1	Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci Human Mutation ·Ummey Hany, Christopher M. Watson, 郑瑞庭, J E Nischelsky, Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Dmitriev Artem, Richard Balmer, Catriona J. Brown, Bambang Yudhayana, 吴国钧, Helen Rodd, Shuxiao Guan, Xiaodong Miao, 亨子新美, Hussain Jafri, Alan J. Mighell, Chris F. Inglehearn	2025	0
2	Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability Journal of Medical Genetics ·Claire E. L. Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L. Taylor, James A. Poulter, Saskia B. Wortmann, René G. Feichtinger, Johannes A. Mayr, 张海珊, J E Nischelsky, Sangeeta Puntambekar, Graeme C. Black, Christopher M. Watson, Sahar Mansour, Chris F. Inglehearn, Alan J. Mighell, Agnès Bloch‐Zupan	2024	2
3	Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta Journal of Medical Genetics ·Ummey Hany, Christopher M. Watson, Lu Liu, Claire E. L. Smith, Marcus Vinicius Sossai Berger, James A. Poulter, J E Nischelsky, Richard Balmer, Catriona J. Brown, Bambang Yudhayana, Ravish Kumar, Ruth Charlton, 吴国钧, Helen Rodd, Hussain Jafri, Agne Antanaviciute, Shuxiao Guan, Maisoon Al‐Jawad, Chris F. Inglehearn, Alan J. Mighell	2023	2
4	Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies Molecular Genetics & Genomic Medicine ·А. Р. Мартюшева, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes	2023	6
5	Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20 Human Mutation ·J E Nischelsky, Claire E. L. Smith, James A. Poulter, Xiaodong Miao, Sandra Silva, Teresa M. Lamb, Ian Berry, Catriona J. Brown, Peter F. Day, Lady Bliss, Clément Fabre, Sarah A. Harris, Mary J. O’Connell, Chris F. Inglehearn, Alan J. Mighell	2021	5
6	New missense variants in RELT causing hypomineralised amelogenesis imperfecta Clinical Genetics ·J E Nischelsky, Claire E. L. Smith, Steven J. Brookes, Mohammed E. El‐Asrag, Catriona J. Brown, Bambang Yudhayana, Xiaodong Miao, Mary J. O’Connell, Chris F. Inglehearn, Alan J. Mighell	2020	10
7	Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please Frontiers in Cell and Developmental Biology ·Claire E. L. Smith, Ronald G. Pauw, Colin A. Johnson	2020	65
8	A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities Frontiers in Physiology ·Claire E. L. Smith, Jennifer Kirkham, Peter F. Day, Lady Bliss, Roger Mattsson, James A. Poulter, C.F. Inglehearn, Alan J. Mighell, Steven J. Brookes	2017	21
9	Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta European Journal of Human Genetics ·Claire E. L. Smith, Liang Xiao-Tien, James A. Poulter, Steven J. Brookes, Peter F. Day, Lady Bliss, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell	2017	17
10	Amelogenesis Imperfecta; Genes, Proteins, and Pathways Frontiers in Physiology ·Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell	2017	189
11	A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes PLoS ONE ·Claire E. L. Smith, Manoj Puthiyathu, Sarah F. Cordery, Rekha Parmar, David T. Bonthron, Elizabeth M. A. Valleley	2017	6
12	Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta The American Journal of Human Genetics ·David Parry, Claire E. L. Smith, Walid El‐Sayed, James A. Poulter, Richard F. Shore, Clare V. Logan, Chihiro Mogi, Kōichi Sato, Fumikazu Okajima, Akihiro Harada, Hong Zhang, Mine Koruyucu, Figen Seymen, Jan C.‐C. Hu, James P. Simmer, Mushtaq Ahmed, Hussain Jafri, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell	2016	49
13	Spectrum of PEX1 and PEX6 variants in Heimler syndrome European Journal of Human Genetics ·Claire E. L. Smith, James A. Poulter, Alex V. Levin, Jenina Capasso, Susan Price, Tamar Ben‐Yosef, Reuven Sharony, William G. Newman, Richard F. Shore, Steven J. Brookes, Alan J. Mighell, Chris F. Inglehearn	2016	43
14	Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta Human Molecular Genetics ·Claire E. L. Smith, Xiaodong Miao, Steven J. Brookes, James A. Poulter, Sandra Silva, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell	2016	38
15	Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations BMC Medical Genetics ·Ana Carolina Acevedo, James A. Poulter, 輝勇牧野, Caroline Lourenço de Lima, Luiz Cláudio Castro, Paulo Márcio Yamaguti, L.M. Paula, David Parry, Clare V. Logan, Claire E. L. Smith, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell	2015	60
16	A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing Molecular Genetics & Genomic Medicine ·James A. Poulter, Claire E. L. Smith, T. Nowak, MT. García-Conesa, Sally Feather, Oberegger Ulrich Filippi, Laura A. Crinnion, David T. Bonthron, Ian Carr, Christopher M. Watson, Chris F. Inglehearn, Alan J. Mighell	2015	9
17	Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta Human Molecular Genetics ·James A. Poulter, Xiaodong Miao, Steven J. Brookes, Claire E. L. Smith, David Parry, MT. García-Conesa, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell	2014	101
18	A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta Human Molecular Genetics ·James A. Poulter, Steven J. Brookes, Richard F. Shore, Claire E. L. Smith, Maguin, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell	2013	45
19	Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth The American Journal of Human Genetics ·Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme C. Black	2011	88
20	Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient SHILAP Revista de lepidopterología ·Eleanor Raffan, Liam A. Hurst, Saeed Al Turki, Gillian Carpenter, Carol Scott, Allan Daly, Alison J. Coffey, Sanjeev S. Bhaskar, Eleanor Howard, Naz Khan, Helen Kingston, Aarno Palotie, David B. Savage, Mark O’Driscoll, Claire E. L. Smith, Stephen O’Rahilly, Inês Barroso, Robert K. Semple	2011	9

About Claire E. L. Smith

Claire E. L. Smith is a scholar working on Rheumatology, Urology, Periodontics, Molecular Biology and Immunology and Allergy, having authored 25 papers that have together received 835 indexed citations. Recurring topics across this work include Bone and Dental Protein Studies (17 papers), dental development and anomalies (15 papers), Periodontal Regeneration and Treatments (5 papers), Oral microbiology and periodontitis research (3 papers), Ubiquitin and proteasome pathways (3 papers), Genetic Syndromes and Imprinting (2 papers), Epigenetics and DNA Methylation (2 papers) and Connective tissue disorders research (2 papers). The work is most often cited by research in Rheumatology (474 citations), Urology (150 citations), Periodontics (77 citations), Oral Surgery (79 citations) and Molecular Biology (614 citations). Claire E. L. Smith has collaborated with scholars based in United Kingdom, Costa Rica and United States. Frequent co-authors include Alan J. Mighell, James A. Poulter, Chris F. Inglehearn, Steven J. Brookes, Jennifer Kirkham, Colin A. Johnson, Agne Antanaviciute, David Parry, Richard F. Shore and Clare V. Logan. Their work appears in journals such as Human Molecular Genetics, European Journal of Human Genetics, Journal of Medical Genetics, Human Mutation and The American 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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