Deborah Bartholdi

9.4k total citations · 1 hit paper
38 papers, 2.7k citations indexed

About

Deborah Bartholdi is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Deborah Bartholdi has authored 38 papers receiving a total of 2.7k indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Genetics, 18 papers in Molecular Biology and 5 papers in Surgery. Recurrent topics in Deborah Bartholdi's work include Connective tissue disorders research (6 papers), Spinal Cord Injury Research (4 papers) and Genomic variations and chromosomal abnormalities (4 papers). Deborah Bartholdi is often cited by papers focused on Connective tissue disorders research (6 papers), Spinal Cord Injury Research (4 papers) and Genomic variations and chromosomal abnormalities (4 papers). Deborah Bartholdi collaborates with scholars based in Switzerland, Germany and France. Deborah Bartholdi's co-authors include Martin E. Schwab, Martin E. Schwab, Beatrix P. Rubin, Dunja Niedrist, Stefan J. White, Jeroen Roelfsema, Raoul C. M. Hennekam, Gert‐Jan B. van Ommen, Carlos A. Bacino and Yavuz Ariyürek and has published in prestigious journals such as Physiological Reviews, The Journal of Immunology and American Journal of Respiratory and Critical Care Medicine.

In The Last Decade

Deborah Bartholdi

37 papers receiving 2.6k 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.

Degeneration and regeneration of axons in the lesioned spinal cord

1996 942 citations Martin E. Schwab, Deborah Bartholdi profile →

Peers — A (Enhanced Table)

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

Name	h						Papers	Cites
Deborah Bartholdi Switzerland	19	948	933	911	578	476	38	2.7k
Ehud Hauben Israel	29	714 0.8×	912 1.0×	788 0.9×	352 0.6×	441 0.9×	51	3.7k
H. David Shine United States	30	1.2k 1.2×	1.5k 1.7×	376 0.4×	1.0k 1.8×	792 1.7×	50	3.7k
Linda K. McLoon United States	30	606 0.6×	1.3k 1.3×	664 0.7×	220 0.4×	173 0.4×	129	2.7k
Glenn Yiu United States	29	1.8k 1.9×	1.5k 1.6×	444 0.5×	208 0.4×	998 2.1×	131	4.3k
Bas Blits Netherlands	22	1.7k 1.8×	753 0.8×	717 0.8×	327 0.6×	763 1.6×	29	2.3k
Ruben Eggers Netherlands	25	1.1k 1.1×	621 0.7×	327 0.4×	326 0.6×	384 0.8×	39	1.6k
Ubaldo Del Carro Italy	31	1.2k 1.3×	1.5k 1.6×	389 0.4×	310 0.5×	937 2.0×	81	3.9k
Jitka Ourednik United States	17	1.1k 1.2×	1.1k 1.2×	321 0.4×	147 0.3×	1.2k 2.6×	26	2.6k
Diana L. Clarke United States	13	845 0.9×	1.1k 1.2×	202 0.2×	231 0.4×	1.1k 2.4×	17	2.5k
Su-Chun Zhang United States	25	1.3k 1.4×	2.8k 3.0×	246 0.3×	392 0.7×	1.2k 2.5×	31	3.9k

Countries citing papers authored by Deborah Bartholdi

Since Specialization

Citations

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

Fields of papers citing papers by Deborah Bartholdi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Deborah Bartholdi

This figure shows the co-authorship network connecting the top 25 collaborators of Deborah Bartholdi. A scholar is included among the top collaborators of Deborah Bartholdi 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 Bartholdi. Deborah Bartholdi 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

Kaufman, Christina L., et al.. (2024). LEMD2‐associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene. Aging Cell. 23(8). e14189–e14189. 3 indexed citations

Maamari, Basel, Tatiana Brémovà-Ertl, Jean‐Marc Nuoffer, et al.. (2023). Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62. Parkinsonism & Related Disorders. 120. 105460–105460. 3 indexed citations

Broser, Philip J., et al.. (2022). Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report. Pediatric Rheumatology. 20(1). 24–24. 5 indexed citations

Acierno, James S., Cheng Xu, Georgios Papadakis, et al.. (2020). Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in Medicine. 22(11). 1759–1767. 8 indexed citations

Neubauer, Jacqueline, Jean‐Sébastien Rougier, Hugues Abriel, et al.. (2019). Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death. International Journal of Legal Medicine. 133(6). 1733–1742. 7 indexed citations

Hofstaetter, C., Carolina Courage, Deborah Bartholdi, Saskia Biskup, & Luigi Raio. (2018). Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clinical Case Reports. 6(2). 420–425. 4 indexed citations

Gerth‐Kahlert, Christina, Mathias Abegg, Deborah Bartholdi, et al.. (2017). Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC Medical Genetics. 18(1). 22–22. 5 indexed citations

Döcker, Dennis, Max Schubach, Moritz Menzel, et al.. (2013). Further delineation of the SATB2 phenotype. European Journal of Human Genetics. 22(8). 1034–1039. 68 indexed citations

Huber, Céline, Eissa Faqeih, Deborah Bartholdi, et al.. (2012). Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia. The American Journal of Human Genetics. 92(1). 144–149. 41 indexed citations

10.

Bartholdi, Deborah, Sandra P. Toelle, Bernhard Steiner, et al.. (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics. 51(2). 113–123. 15 indexed citations

11.

Poretti, Andrea, et al.. (2008). Gomez–Lopez-Hernandez syndrome: An easily missed diagnosis. European Journal of Medical Genetics. 51(3). 197–208. 24 indexed citations

12.

Hoornaert, Kristien, Deborah Bartholdi, Katelijne Bouman, et al.. (2007). A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics Part A. 143A(3). 258–264. 61 indexed citations

13.

Bartholdi, Deborah, Andrea Klein, M Weissert, et al.. (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics. 69(4). 319–326. 13 indexed citations

14.

Roelfsema, Jeroen, Stefan J. White, Yavuz Ariyürek, et al.. (2005). Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. The American Journal of Human Genetics. 76(4). 572–580. 316 indexed citations

15.

Bartholdi, Deborah, et al.. (2004). Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome. European Journal of Human Genetics. 13(3). 273–277. 18 indexed citations

16.

Echaniz‐Laguna, Andoni, Pierre Miniou, Deborah Bartholdi, & Judith Melki. (1999). The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements. The American Journal of Human Genetics. 64(5). 1365–1370. 63 indexed citations

17.

Bartholdi, Deborah & Martin E. Schwab. (1997). Expression of Pro‐Inflammatory Cytokine and Chemokine mRNA Upon Experimental Spinal Cord Injury in Mouse: an In Situ Hybridization Study. European Journal of Neuroscience. 9(7). 1422–1438. 297 indexed citations

18.

Bartholdi, Deborah, Beatrix P. Rubin, & Martin E. Schwab. (1997). VEGF mRNA Induction Correlates With Changes in the Vascular Architecture Upon Spinal Cord Damage in the Rat. European Journal of Neuroscience. 9(12). 2549–2560. 105 indexed citations

19.

Bartholdi, Deborah & Martin E. Schwab. (1995). Methylprednisolone inhibits early inflammatory processes but not ischemic cell death after experimental spinal cord lesion in the rat. Brain Research. 672(1-2). 177–186. 155 indexed citations

20.

Seebach, Jörg D., Deborah Bartholdi, Karl Frei, et al.. (1995). Experimental Listeria meningoencephalitis. Macrophage inflammatory protein-1 α and -2 are produced intrathecally and mediate chemotactic activity in cerebrospinal fluid of infected mice. The Journal of Immunology. 155(9). 4367–4375. 83 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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