David Sillence

14.2k total citations · 5 hit papers
120 papers, 8.3k citations indexed

About

David Sillence is a scholar working on Genetics, Rheumatology and Molecular Biology. According to data from OpenAlex, David Sillence has authored 120 papers receiving a total of 8.3k indexed citations (citations by other indexed papers that have themselves been cited), including 76 papers in Genetics, 33 papers in Rheumatology and 24 papers in Molecular Biology. Recurrent topics in David Sillence's work include Connective tissue disorders research (63 papers), Lysosomal Storage Disorders Research (16 papers) and Bone and Dental Protein Studies (11 papers). David Sillence is often cited by papers focused on Connective tissue disorders research (63 papers), Lysosomal Storage Disorders Research (16 papers) and Bone and Dental Protein Studies (11 papers). David Sillence collaborates with scholars based in Australia, United States and United Kingdom. David Sillence's co-authors include D. M. Danks, Fleur S. van Dijk, Ravi Savarirayan, Stefan Mundlos, Geert Mortier, Valérie Cormier‐Daire, Gen Nishimura, Andrea Superti‐Furga, Sheila Unger and Matthew L. Warman and has published in prestigious journals such as Journal of Biological Chemistry, Journal of Clinical Investigation and Nature Genetics.

In The Last Decade

David Sillence

120 papers receiving 8.0k citations

Hit Papers

Genetic heterogeneity in osteogenesis imperfecta. 1979 2026 1994 2010 1979 2014 2011 2019 2015 500 1000 1.5k
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

  1. Genetic heterogeneity in osteogenesis imperfecta.
    1979 1.6k citations David Sillence et al. profile →
  2. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
    2014 501 citations Fleur S. van Dijk, David Sillence American Journal of Medical Genetics Part A profile →
  3. Nosology and classification of genetic skeletal disorders: 2010 revision
    2011 450 citations Matthew L. Warman, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →
  4. Nosology and classification of genetic skeletal disorders: 2019 revision
    2019 379 citations Geert Mortier, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →
  5. Nosology and classification of genetic skeletal disorders: 2015 revision
    2015 367 citations Luisa Bonafé, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →

Peers

David Sillence
Peter Beighton South Africa
Clair A. Francomano United States
Vincent M. Riccardi United States
Anne De Paepe Belgium
Shiro Ikegawa Japan
Thorsten Schinke Germany
Valérie Cormier‐Daire France
Jürgen W. Spranger Germany
William A. Horton United States
B P Wordsworth United Kingdom
Peter Beighton South Africa
David Sillence
Citations per year, relative to David Sillence David Sillence (= 1×) peers Peter Beighton

Countries citing papers authored by David Sillence

Since Specialization
Citations

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

Fields of papers citing papers by David Sillence

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of David Sillence

This figure shows the co-authorship network connecting the top 25 collaborators of David Sillence. A scholar is included among the top collaborators of David Sillence 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 David Sillence. David Sillence 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.
Tarnauskaitė, Žygimantė, Louise S. Bicknell, Joseph A. Marsh, et al.. (2019). Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human Mutation. 40(8). 1063–1070. 17 indexed citations
2.
Bonafé, Luisa, Valérie Cormier‐Daire, Christine M Hall, et al.. (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics Part A. 167(12). 2869–2892. 367 indexed citations breakdown →
3.
Munns, Craig F., Somayyeh Fahiminiya, Maria Cristina Munteanu, et al.. (2015). Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects. The American Journal of Human Genetics. 96(6). 971–978. 57 indexed citations
4.
Dijk, Fleur S. van & David Sillence. (2014). Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics Part A. 164(6). 1470–1481. 501 indexed citations breakdown →
5.
McInerney‐Leo, Aideen, Gareth Baynam, Craig F. Munns, et al.. (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders. 15(1). 107–107. 20 indexed citations
6.
Warman, Matthew L., Valérie Cormier‐Daire, Christine M Hall, et al.. (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics Part A. 155(5). 943–968. 450 indexed citations breakdown →
7.
Sillence, David, et al.. (2011). Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep And Breathing. 15(4). 755–761. 48 indexed citations
8.
McGill, James, Andreas Zankl, Robert S. Ware, et al.. (2011). Functional performance in young Australian children with achondroplasia. Developmental Medicine & Child Neurology. 53(10). 944–950. 52 indexed citations
9.
Martin, Linda K., Allan Sturgess, David Sillence, & Dédée F. Murrell. (2007). Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. Australasian Journal of Dermatology. 48(1). 40–42. 5 indexed citations
10.
Gensure, Robert, Outi Mäkitie, Steven R. DePalma, et al.. (2005). A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Journal of Clinical Investigation. 115(5). 1250–1257. 101 indexed citations
11.
Grewal, Satkiran S., Robert Wynn, José E. Abdenur, et al.. (2005). Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in Medicine. 7(2). 143–146. 74 indexed citations
12.
Sparrow, Duncan B., Melanie Clements, Sarah L. Withington, et al.. (2002). Diverse requirements for Notch signalling in mammals. The International Journal of Developmental Biology. 46(4). 365–374. 24 indexed citations
13.
Dahlstrom, Jane E., Susan Arbuckle, K. Kozlowski, et al.. (2001). Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology. 33(4). 521–525. 11 indexed citations
14.
Gedeon, Ági K., Alison Colley, Robyn V. Jamieson, et al.. (1999). Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics. 22(4). 400–404. 145 indexed citations
15.
Mulley, John C., Kathrin Saar, Franz Rüschendorf, et al.. (1998). Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13. The American Journal of Human Genetics. 62(4). 884–889. 63 indexed citations
16.
Gibson, J. N. Alastair, David Sillence, & T.K.F. Taylor. (1996). Abnormalities of the Spine in Goldenhar's Syndrome. Journal of Pediatric Orthopaedics. 16(3). 344–349. 25 indexed citations
17.
Sillence, David, et al.. (1995). Early prenatal diagnosis of cartilage‐hair hypoplasia (CHH) with polymorphic DNA markers. Prenatal Diagnosis. 15(2). 135–140. 4 indexed citations
18.
Robson, Lisa, et al.. (1994). Novel karyotype in the Ullrich‐Turner syndrome—45,X/46,X,r(X)/46,X,dic(X)—investigated with fluorescence in situ hybridization. American Journal of Medical Genetics. 50(3). 251–254. 5 indexed citations
19.
Sillence, David, et al.. (1987). Perinatally lethal short rib-polydactyly syndromes 1. Variability in known syndromes. Pediatric Radiology. 17(6). 474–480. 17 indexed citations
20.
Griffin, John R., et al.. (1980). OPTOMETRIC SCREENING IN ACHONDROPLASIA, DIASTROPHIC DYSPLASIA, AND SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA. Optometry and Vision Science. 57(2). 118–123. 4 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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