Shelagh Joss

6.0k total citations
19 papers, 452 citations indexed

About

Shelagh Joss is a scholar working on Molecular Biology, Genetics and Surgery. According to data from OpenAlex, Shelagh Joss has authored 19 papers receiving a total of 452 indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Molecular Biology, 10 papers in Genetics and 4 papers in Surgery. Recurrent topics in Shelagh Joss's work include Congenital heart defects research (5 papers), Genomic variations and chromosomal abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Shelagh Joss is often cited by papers focused on Congenital heart defects research (5 papers), Genomic variations and chromosomal abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (3 papers). Shelagh Joss collaborates with scholars based in United Kingdom, Italy and United States. Shelagh Joss's co-authors include John Tolmie, Mohnish Suri, Veronica M. Pravatà, Daan M. F. van Aalten, Mehmet Gundogdu, Marios P. Stavridis, Mira Kharbanda, Villő Muha, Andrew T. Ferenbach and Ruth Newbury‐Ecob and has published in prestigious journals such as Proceedings of the National Academy of Sciences, PEDIATRICS and Human Molecular Genetics.

In The Last Decade

Shelagh Joss

19 papers receiving 429 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Shelagh Joss United Kingdom	13	303	169	63	53	43	19	452
Yoko Narumi Japan	10	430 1.4×	144 0.9×	101 1.6×	10 0.2×	32 0.7×	14	520
Lynne Hobson Australia	9	563 1.9×	372 2.2×	40 0.6×	29 0.5×	28 0.7×	11	684
Justine Rousseau Canada	15	442 1.5×	83 0.5×	29 0.5×	13 0.2×	54 1.3×	31	548
Lucie Dupuis Canada	13	243 0.8×	335 2.0×	21 0.3×	22 0.4×	92 2.1×	28	554
Maaike Vreeburg Netherlands	15	355 1.2×	261 1.5×	28 0.4×	8 0.2×	58 1.3×	29	530
Meiqin Zhang China	10	186 0.6×	70 0.4×	13 0.2×	17 0.3×	36 0.8×	30	343
Mariam Al‐Mureikhi Qatar	12	334 1.1×	280 1.7×	33 0.5×	9 0.2×	98 2.3×	18	591
Pablo Villavicencio‐Lorini Germany	11	282 0.9×	109 0.6×	21 0.3×	13 0.2×	23 0.5×	17	384
Fernando Santos‐Simarro Spain	14	262 0.9×	234 1.4×	48 0.8×	5 0.1×	29 0.7×	50	470
Alice Steinbrecher Germany	5	638 2.1×	93 0.6×	57 0.9×	35 0.7×	118 2.7×	7	725

Countries citing papers authored by Shelagh Joss

Since Specialization

Citations

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

Fields of papers citing papers by Shelagh Joss

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Shelagh Joss

This figure shows the co-authorship network connecting the top 25 collaborators of Shelagh Joss. A scholar is included among the top collaborators of Shelagh Joss 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 Shelagh Joss. Shelagh Joss 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:

19 of 19 papers shown

Brasch‐Andersen, Charlotte, Helen Cox, Michael Parker, et al.. (2020). A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical Genetics. 97(6). 927–932. 2 indexed citations

Pravatà, Veronica M., Marios P. Stavridis, Dirk J. Lefeber, et al.. (2020). An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. European Journal of Human Genetics. 28(6). 706–714. 43 indexed citations

Pravatà, Veronica M., Villő Muha, Mehmet Gundogdu, et al.. (2019). Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. Proceedings of the National Academy of Sciences. 116(30). 14961–14970. 56 indexed citations

Blyth, Moira, Ingrid Scurr, Peter D. Turnpenny, et al.. (2018). Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. European Journal of Medical Genetics. 62(1). 27–34. 9 indexed citations

Fitzpatrick, David, et al.. (2018). NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea. PEDIATRICS. 141(Supplement_5). S485–S490. 15 indexed citations

Suri, Mohnish, Roman A. Laskowski, Kate Baker, et al.. (2017). Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1. Molecular Genetics & Genomic Medicine. 5(5). 495–507. 20 indexed citations

Laskowski, Roman A., Nidhi Tyagi, Diana Johnson, et al.. (2016). Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Human Molecular Genetics. 25(5). 927–935. 19 indexed citations

Hamilton, Mark, Ruth Newbury‐Ecob, Muriel Holder‐Espinasse, et al.. (2016). Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clinical Dysmorphology. 25(4). 135–145. 36 indexed citations

Southgate, Laura, Maja Sukalo, Edward J. Taylor, et al.. (2015). Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies. Circulation Cardiovascular Genetics. 8(4). 572–581. 70 indexed citations

10.

Loveday, Chey, Katrina Tatton‐Brown, Matthew Clarke, et al.. (2015). Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth. Human Molecular Genetics. 24(17). 4775–4779. 62 indexed citations

11.

Yamamoto, Toshiyuki, Anna Wilsdon, Shelagh Joss, et al.. (2014). An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities. Journal of Human Genetics. 59(6). 300–306. 38 indexed citations

12.

Kharbanda, Mira, John Tolmie, & Shelagh Joss. (2014). How to use… microarray comparative genomic hybridisation to investigate developmental disorders. Archives of Disease in Childhood Education & Practice. 100(1). 24–29. 15 indexed citations

13.

Heuchan, Anne Marie, et al.. (2013). G25 RASA1 Mutations and Vein of Galen Arterial Malformations. Archives of Disease in Childhood. 98(Suppl 1). A16–A17. 5 indexed citations

14.

McGowan, Ruth, Sarah J. Ross, Susan Holloway, et al.. (2012). Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?. Clinical Genetics. 83(2). 187–190. 6 indexed citations

15.

Joss, Shelagh, Usha Kini, Richard Fisher, et al.. (2011). The face of Ulnar Mammary syndrome?. European Journal of Medical Genetics. 54(3). 301–305. 12 indexed citations

16.

Hastings, Rob, David Harding, Alan Donaldson, et al.. (2009). Mardini–Nyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sib—Is there a distinct recessive syndrome?. American Journal of Medical Genetics Part A. 149A(12). 2838–2842. 11 indexed citations

17.

Prescott, Katrina, et al.. (2009). Focal segmental glomerulosclerosis in a female patient with Donnai–Barrow syndrome. Clinical Dysmorphology. 19(1). 35–37. 5 indexed citations

18.

Joss, Shelagh, et al.. (2007). Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. European Journal of Pediatrics. 167(3). 341–345. 16 indexed citations

19.

Joss, Shelagh, Wendy F. Paterson, Malcolm Donaldson, & John Tolmie. (2002). Cleft palate, hypotelorism, and hypospadias: Schilbach‐Rott syndrome. American Journal of Medical Genetics. 113(1). 105–107. 12 indexed citations

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