Deborah Shears

2.3k total citations
22 papers, 957 citations indexed

About

Deborah Shears is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Deborah Shears has authored 22 papers receiving a total of 957 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 13 papers in Molecular Biology and 2 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Deborah Shears's work include Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (7 papers), Genomics and Rare Diseases (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Deborah Shears is often cited by papers focused on Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (7 papers), Genomics and Rare Diseases (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Deborah Shears collaborates with scholars based in United Kingdom, Spain and Germany. Deborah Shears's co-authors include Peter Scambler, Robin M. Winter, Rodger W. Palmer, Frances R. Goodman, William Reardon, Andrea Superti‐Furga, Stephen P. Robertson, Andrew O.M. Wilkie, Stephen R.F. Twigg and Andrew J. Sutherland‐Smith and has published in prestigious journals such as Nature Genetics, Human Molecular Genetics and Journal of Medical Genetics.

In The Last Decade

Deborah Shears

20 papers receiving 937 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Deborah Shears United Kingdom 10 611 532 130 69 61 22 957
Véronica Cusin France 12 443 0.7× 309 0.6× 28 0.2× 91 1.3× 97 1.6× 13 721
Stavit A. Shalev Israel 19 519 0.8× 416 0.8× 108 0.8× 83 1.2× 107 1.8× 44 962
Steffen Lenzner Germany 14 1.3k 2.2× 674 1.3× 198 1.5× 107 1.6× 37 0.6× 23 1.6k
James Lespinasse France 15 702 1.1× 619 1.2× 37 0.3× 71 1.0× 82 1.3× 35 1.4k
Nicoletta Corbi Italy 19 1.2k 2.0× 326 0.6× 77 0.6× 88 1.3× 69 1.1× 40 1.5k
Elena Vallespín Spain 20 711 1.2× 349 0.7× 75 0.6× 62 0.9× 28 0.5× 53 944
Irene Madrigal Spain 20 699 1.1× 945 1.8× 86 0.7× 108 1.6× 47 0.8× 83 1.3k
Gotthold Barbi Germany 17 560 0.9× 632 1.2× 56 0.4× 68 1.0× 53 0.9× 59 1.1k
Holger Tönnies Germany 23 927 1.5× 833 1.6× 90 0.7× 78 1.1× 122 2.0× 55 1.6k
Isabelle Maystadt Belgium 14 514 0.8× 516 1.0× 86 0.7× 94 1.4× 51 0.8× 32 946

Countries citing papers authored by Deborah Shears

Since Specialization
Citations

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

Fields of papers citing papers by Deborah Shears

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Deborah Shears

This figure shows the co-authorship network connecting the top 25 collaborators of Deborah Shears. A scholar is included among the top collaborators of Deborah Shears 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 Deborah Shears. Deborah Shears is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Douiev, Liza, Paula Fernández‐Álvarez, M. R. Frank, et al.. (2025). Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants. American Journal of Medical Genetics Part A. 197(8). e64048–e64048.
2.
McCann, Emma, Astrid Weber, Jenny E.V. Morton, et al.. (2024). Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis. Journal of Anatomy. 245(6). 874–878. 2 indexed citations
3.
Hartill, Verity, M. Shahjahan Kabir, Sunayna Best, et al.. (2024). Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics. 33(6). 793–802. 1 indexed citations
4.
Bragg, Fiona, et al.. (2023). Tumour occurrence in women with Turner syndrome: A narrative review and single‐centre case series. Clinical Endocrinology. 99(1). 64–72.
5.
Pagnamenta, Alistair T., Francisca Díaz, Matteo P. Ferla, et al.. (2021). Variable skeletal phenotypes associated with biallelic variants in PRKG2. Journal of Medical Genetics. 59(10). 947–950. 5 indexed citations
6.
Hildebrand, Göran Darius, Rodney D. Gilbert, Rachel Horton, et al.. (2021). Ectopic vortex veins and varices in Donnai Barrow syndrome. Ophthalmic Genetics. 43(2). 248–252. 1 indexed citations
7.
Smogavec, Mateja, Juliane Hoyer, Damien Lederer, et al.. (2016). Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Journal of Medical Genetics. 53(12). 820–827. 41 indexed citations
8.
Parker, Michael, Alan Fryer, Deborah Shears, et al.. (2015). De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. American Journal of Medical Genetics Part A. 167(10). 2231–2237. 79 indexed citations
9.
Shears, Deborah, et al.. (2015). Children with sex chromosome trisomies: parental disclosure of genetic status. European Journal of Human Genetics. 24(5). 638–644. 7 indexed citations
10.
Bunyan, David J., Silvia Vannelli, Lorenzo Iughetti, et al.. (2015). Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature. American Journal of Medical Genetics Part A. 170(4). 949–957. 20 indexed citations
11.
Gray, Mary Jane, Margriet van Kogelenberg, Tim Morgan, et al.. (2014). A new acro-osteolysis syndrome caused by duplications including PTHLH. Journal of Human Genetics. 59(9). 484–487. 10 indexed citations
12.
Aza‐Carmona, Miriam, Deborah Shears, Patricia Yuste‐Checa, et al.. (2011). SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Human Molecular Genetics. 20(8). 1547–1559. 43 indexed citations
13.
Nikopoulos, Konstantinos, Hanka Venselaar, Rob W.J. Collin, et al.. (2010). Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Human Mutation. 31(6). 656–666. 121 indexed citations
14.
Klopocki, Eva, Bianca P. Hennig, Verayuth Praphanphoj, et al.. (2010). Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics. 18(12). 1310–1314. 24 indexed citations
15.
Shears, Deborah, Amaka C Offiah, Paul Rutland, et al.. (2004). Kantaputra mesomelic dysplasia: A second reported family. American Journal of Medical Genetics Part A. 128A(1). 6–11. 8 indexed citations
16.
Shears, Deborah, et al.. (2004). Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Clinical Genetics. 65(5). 384–389. 8 indexed citations
17.
Robertson, Stephen P., Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, et al.. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics. 33(4). 487–491. 297 indexed citations
18.
Shears, Deborah, et al.. (2002). Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. American Journal of Medical Genetics. 110(2). 153–157. 24 indexed citations
19.
Baralle, Diana, Lionel Willatt, & Deborah Shears. (2000). L�ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling. American Journal of Medical Genetics. 95(4). 391–395. 8 indexed citations
20.
Shears, Deborah, Frances R. Goodman, Rodger W. Palmer, et al.. (1998). Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nature Genetics. 19(1). 70–73. 243 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.

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