Susan Holder

6.8k total citations · 1 hit paper
43 papers, 2.2k citations indexed

About

Susan Holder is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Susan Holder has authored 43 papers receiving a total of 2.2k indexed citations (citations by other indexed papers that have themselves been cited), including 28 papers in Genetics, 19 papers in Molecular Biology and 5 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Susan Holder's work include Genomic variations and chromosomal abnormalities (8 papers), Genetics and Neurodevelopmental Disorders (7 papers) and Genetic Syndromes and Imprinting (4 papers). Susan Holder is often cited by papers focused on Genomic variations and chromosomal abnormalities (8 papers), Genetics and Neurodevelopmental Disorders (7 papers) and Genetic Syndromes and Imprinting (4 papers). Susan Holder collaborates with scholars based in United Kingdom, Netherlands and United States. Susan Holder's co-authors include Anna Pelet, Patrick Edery, Laurent Abel, Stanislas Lyonnet, Claire Nihoul‐Feketé, Arnold Münnich, Lois M. Mulligan, Bruce A.J. Ponder, R M Winter and M Farrall and has published in prestigious journals such as Nature, PLoS ONE and Brain.

In The Last Decade

Susan Holder

43 papers receiving 2.1k citations

Hit Papers

align trajectories

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.

Mutations of the RET proto-oncogene in Hirschsprung's disease

1994 540 citations Susan Holder et al. profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Susan Holder United Kingdom	21	1.2k	1.1k	525	265	176	43	2.2k
Oliver Bartsch Germany	29	1.3k 1.1×	1.3k 1.2×	421 0.8×	387 1.5×	93 0.5×	153	2.7k
Kwame Anyane‐Yeboa United States	26	1.2k 1.0×	1.3k 1.2×	277 0.5×	361 1.4×	270 1.5×	66	2.3k
Mahin Golabi United States	26	1.2k 1.0×	1.3k 1.2×	470 0.9×	386 1.5×	133 0.8×	59	2.4k
Clarisse Baumann France	26	853 0.7×	969 0.9×	495 0.9×	252 1.0×	101 0.6×	73	2.1k
Margherita Silengo Italy	29	1.7k 1.4×	2.0k 1.8×	489 0.9×	617 2.3×	273 1.6×	114	3.3k
Vincent El Ghouzzi France	27	1.0k 0.9×	1.1k 1.0×	204 0.4×	185 0.7×	97 0.6×	44	2.1k
Renaud Touraine France	25	633 0.5×	1.1k 1.0×	354 0.7×	120 0.5×	85 0.5×	93	2.0k
Yasemin Alanay Türkiye	26	1.0k 0.9×	994 0.9×	370 0.7×	179 0.7×	98 0.6×	108	2.1k
Giorgio Gimelli Italy	27	1.9k 1.6×	1.7k 1.6×	514 1.0×	495 1.9×	139 0.8×	128	3.4k
Dvorah Abeliovich Israel	31	1.4k 1.2×	1.5k 1.3×	340 0.6×	450 1.7×	72 0.4×	98	3.0k

Countries citing papers authored by Susan Holder

Since Specialization

Citations

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

Fields of papers citing papers by Susan Holder

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Susan Holder

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

All Works

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20 of 20 papers shown

Douzgou, Sofia, Hui Liang, Kay Metcalfe, et al.. (2019). The clinical presentation caused by truncating CHD8 variants. Clinical Genetics. 96(1). 72–84. 26 indexed citations

Jackson, Adam, Rebecca Bromley, Pradeep Vasudevan, et al.. (2019). Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes. Archives of Disease in Childhood. 105(4). 384–389. 2 indexed citations

Yao, Baojin, Tommaso Pippucci, Joshua D. Smith, et al.. (2019). De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. The American Journal of Human Genetics. 104(4). 777–777. 6 indexed citations

Nahorski, Michael S., Masato Asai, Emma Wakeling, et al.. (2016). CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain. 139(4). 1036–1044. 16 indexed citations

Grozeva, Detelina, Keren Carss, Olivera Spasić-Bošković, et al.. (2014). De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability. The American Journal of Human Genetics. 94(4). 618–624. 89 indexed citations

Rao, Veena, et al.. (2013). Chitayat–Hall syndrome. Clinical Dysmorphology. 22(4). 156–160. 3 indexed citations

Ellis, Richard J., et al.. (2013). Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome. Clinical Dysmorphology. 23(1). 29–31. 6 indexed citations

Simpson, Michael A., Charu Deshpande, Dimitra Dafou, et al.. (2012). De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome. The American Journal of Human Genetics. 90(2). 290–294. 72 indexed citations

Krawitz, Peter, Yoshiko Murakami, Jochen Hecht, et al.. (2012). Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation. The American Journal of Human Genetics. 91(1). 146–151. 107 indexed citations

10.

Smith, Adam J. de, Mieke M. van Haelst, Richard J. Ellis, et al.. (2011). Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. American Journal of Medical Genetics Part A. 155(5). 1192–1195. 15 indexed citations

11.

Smith, Miriam J., Cecilie F. Rustad, Naomi L. Bowers, et al.. (2011). Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. American Journal of Medical Genetics Part A. 158A(1). 215–219. 41 indexed citations

12.

Smith, Adam J. de, Carolin Purmann, Robin Walters, et al.. (2009). Elucidating the aetiology of Prader-Willi syndrome: deletion of the HBII-85 class of snoRNA is associated with hyperphagia, obesity and hypogonadism. Journal of Medical Genetics. 46. 1 indexed citations

13.

Smith, Adam J. de, Carolin Purmann, Robin Walters, et al.. (2009). A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Human Molecular Genetics. 18(17). 3257–3265. 217 indexed citations

14.

Canham, Natalie & Susan Holder. (2008). Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. Clinical Dysmorphology. 17(4). 279–281. 4 indexed citations

15.

Dadzie, O.E., L. Tyszczuk, Susan Holder, et al.. (2007). Adams–Oliver Syndrome with Widespread CMTC and Fatal Pulmonary Vascular Disease. Pediatric Dermatology. 24(6). 651–653. 9 indexed citations

16.

Murdin, Louisa, Tony Sirimanna, Ben Hartley, & Susan Holder. (2005). Chondrodysplasia punctata: case report and review of audiological and ENT features. The Journal of Laryngology & Otology. 120(3). 233–236. 6 indexed citations

17.

Holder, Susan, et al.. (2005). De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Human Genetics. 117(1). 1–8. 21 indexed citations

18.

Wakeling, Emma, et al.. (2002). X-linked inheritance of Dandy-Walker variant. Clinical Dysmorphology. 11(1). 15–18. 12 indexed citations

19.

Holder, Susan, et al.. (1998). Cellular Plasticity Among Axolotl Neural Crest‐Derived Pigment Cell Lineages. Pigment Cell Research. 11(1). 38–44. 8 indexed citations

20.

Holder, Susan & R M Winter. (1993). Otopalatodigital syndrome type II.. Journal of Medical Genetics. 30(4). 310–313. 7 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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