Diana Johnson

4.1k citations

26 papers · 772 indexed · h-index 15

Co-authors: Nigel Wheeldon Melanie Pepin James H. Black Peter H. Byers Michael Frank Xavier Jeunemaı̂tre Leema Robert Julie De Backer
Topics: Connective tissue disorders research (11 papers)Genomics and Rare Diseases (9 papers)Genomic variations and chromosomal abnormalities (8 papers)
Cited by: Genetics Cell Biology Molecular Biology
Journals: Genome Research The American Journal of Human Genetics Human Molecular Genetics
Partner nations: United Kingdom Germany Canada

In The Last Decade

Diana Johnson

25 papers receiving 745 citations

Peers

Countries citing papers authored by Diana Johnson

Since Specialization

Citations

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

Fields of papers citing papers by Diana Johnson

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Diana Johnson

This figure shows the co-authorship network connecting the top 25 collaborators of Diana Johnson. A scholar is included among the top collaborators of Diana Johnson based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Diana Johnson. Diana Johnson is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome 2025 ·European Journal of Human Genetics ·(unknown),Shadi Albaba,Glenda Sobey,Jessica Bowen,Deirdre E. Donnelly,Marina Colombi,Marco Ritelli,(unknown),Neeti Ghali,Fleur S. van Dijk,Emma Hobson,(unknown),Esther Kinning,Abhijit Dixit,(unknown),Duncan Baker,Diana Johnson	0
2	Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield 2023 ·European Journal of Human Genetics ·Jessica Bowen,Mónica Hernández Alava,Diana Johnson,(unknown),(unknown),Duncan Baker,(unknown),Seiko Makino,Naomi Taylor,Oliver J. Watson,Nigel Wheeldon,Glenda Sobey	21
3	Dissection of contiguous gene effects for deletions around ERF on chromosome 19 2021 ·Human Mutation ·Eduardo Calpena,Simon J. McGowan,Fiona Blanco‐Kelly,(unknown),Anne Dieux‐Coëslier,Rachel Harrison,Diana Johnson,Katherine Lachlan,Jenny E.V. Morton,Helen Stewart,Pradeep Vasudevan,Stephen R.F. Twigg,Andrew O.M. Wilkie	2
4	Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility 2020 ·Genetics in Medicine ·(unknown),Neeti Ghali,(unknown),(unknown),Duncan Baker,(unknown),Jessica Bowen,Angela F. Brady,(unknown),(unknown),(unknown),Vivienne McConnell,(unknown),Hanadi Kazkaz,Diana Johnson,F. Michael Pope,Anthony Vandersteen,Glenda Sobey,Fleur S. van Dijk	17
5	Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome 2020 ·American Journal of Medical Genetics Part A ·(unknown),Neeti Ghali,(unknown),Duncan Baker,(unknown),Angela F. Brady,Maria Luisa Giovannucci Uzielli,Cecilia Giunta,Diana Johnson,Tomoki Kosho,Katherine Neas,F M Pope,Frank Rutsch,(unknown),Glenda Sobey,Anthony Vandersteen,Fleur S. van Dijk	14
6	Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature 2020 ·Genetics in Medicine ·Ines Kapferer‐Seebacher,(unknown),(unknown),Diana Johnson,Neeti Ghali,Angela F. Brady,Glenda Sobey,Johannes Zschocke,Fleur S. van Dijk	16
7	MAN1B-CDG: Novel variants with a distinct phenotype and review of literature 2018 ·European Journal of Medical Genetics ·Meena Balasubramanian,Diana Johnson	11
8	Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome 2017 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Peter H. Byers,John W. Belmont,James H. Black,Julie De Backer,Michael Frank,Xavier Jeunemaı̂tre,Diana Johnson,Melanie Pepin,Leema Robert,(unknown),Nigel Wheeldon	221
9	Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain 2016 ·Human Molecular Genetics ·Roman A. Laskowski,Nidhi Tyagi,Diana Johnson,Shelagh Joss,Esther Kinning,Catherine McWilliam,Miranda Splitt,Janet M. Thornton,Helen V. Firth,(unknown),(unknown)	19
10	Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene 2016 ·Journal of Medical Genetics ·Meena Balasubramanian,Helen Lord,Sébastien Levesque,Harendra Guturu,(unknown),Guillaume Sillon,Aaron M. Wenger,(unknown),Tracy Lester,Diana Johnson,Jessica Bowen,(unknown),David Viskochil,(unknown),Gill Bejerano,Jonathan A. Bernstein,David Chitayat	15
11	Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements 2015 ·The American Journal of Human Genetics ·Claudia M.B. Carvalho,Rolph Pfundt,Daniel A. King,Sarah Lindsay,Luciana W. Zuccherato,Merryn Macville,Pengfei Liu,Diana Johnson,Paweł Stankiewicz,Chester Brown,Chad A. Shaw,Matthew E. Hurles,Grzegorz Ira,P. J. Hastings,Han G. Brunner,James R. Lupski	42
12	Association of mutations in FLNA with craniosynostosis 2015 ·European Journal of Human Genetics ·(unknown),Nicola Foulds,Diana Johnson,Louise C. Wilson,Robert Wyatt,Stephen P. Robertson,David Johnson,Steven A. Wall,Andrew O.M. Wilkie	7
13	Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2 2014 ·American Journal of Medical Genetics Part A ·(unknown),Ok‐Hwa Kim,Christine M Hall,Amaka C Offiah,Diana Johnson,Dong‐Kyu Jin,Teck‐Hock Toh,Shun Soneda,Dai Keino,(unknown),Tomohiro Ishii,Gen Nishimura,Tomonobu Hasegawa	12
14	X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity 2013 ·Orphanet Journal of Rare Diseases ·Johanna Christina Czeschik,Peter Bauer,Karin Buiting,Claudia Dufke,Encarna Guillén‐Navarro,Diana Johnson,Udo Koehler,Vanesa López‐González,Hermann‐Josef Lüdecke,Alison Male,Deborah Morrogh,Angelika Rieß,Andreas Tzschach,Dagmar Wieczorek,Alma Kuechler	17
15	A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders 2013 ·Genome Research ·Daniel A. King,Tomas Fitzgerald,Ray Miller,Natalie Canham,Jill Clayton‐Smith,Diana Johnson,Sahar Mansour,Fiona Stewart,Pradeep Vasudevan,Matthew E. Hurles,(unknown)	54
16	Cutaneous features in 17q21.31 deletion syndrome 2010 ·Clinical Dysmorphology ·(unknown),Dian Donnai,Diana Johnson,Jill Clayton‐Smith	14
17	Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression 2010 ·Human Mutation ·Markus Zweier,Anne Gregor,Christiane Zweier,Hartmut Engels,Heinrich Sticht,Eva Wohlleber,Emilia K. Bijlsma,Susan Holder,Martin Zenker,Eva Rossier,Ute Grasshoff,Diana Johnson,Lisa Robertson,Helen V. Firth,Cornelia Kraus,Arif B. Ekici,André Reis,Anita Rauch	114
18	IMAGe syndrome: Case report with a previously unreported feature and review of published literature 2010 ·American Journal of Medical Genetics Part A ·Meena Balasubramanian,Alan Sprigg,Diana Johnson	19
19	The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects 2009 ·American Journal of Medical Genetics Part A ·Katie Snape,Deborah Ruddy,Martin Zenker,Wim Wuyts,Margo Whiteford,Diana Johnson,Wayne Lam,Richard C. Trembath	70
20	The triple symbiotic system CH Cygni 1993 ·The Astronomical Journal ·Kenneth H. Hinkle,Francis C. Fekel,Diana Johnson,(unknown)	37

About Diana Johnson

Diana Johnson is a scholar working on Genetics, Periodontics and Molecular Biology, having authored 26 papers that have together received 772 indexed citations. Recurring topics across this work include Connective tissue disorders research (11 papers), Genomics and Rare Diseases (9 papers) and Genomic variations and chromosomal abnormalities (8 papers). The work is most often cited by research in Genetics (526 citations), Cell Biology (84 citations) and Molecular Biology (320 citations). Diana Johnson has collaborated with scholars based in United Kingdom, Germany and Canada. Frequent co-authors include Nigel Wheeldon, Melanie Pepin, James H. Black, Peter H. Byers, Michael Frank, Xavier Jeunemaı̂tre, Leema Robert, Julie De Backer, John W. Belmont and Martin Zenker. Their work appears in journals such as Genome Research, The American Journal of Human Genetics and Human Molecular 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.

Explore authors with similar magnitude of impact