Silke Pauli

1.5k total citations
39 papers, 723 citations indexed

About

Silke Pauli is a scholar working on Molecular Biology, Genetics and Genetics. According to data from OpenAlex, Silke Pauli has authored 39 papers receiving a total of 723 indexed citations (citations by other indexed papers that have themselves been cited), including 20 papers in Molecular Biology, 12 papers in Genetics and 11 papers in Genetics. Recurrent topics in Silke Pauli's work include Congenital Ear and Nasal Anomalies (10 papers), Tracheal and airway disorders (10 papers) and Genomic variations and chromosomal abnormalities (7 papers). Silke Pauli is often cited by papers focused on Congenital Ear and Nasal Anomalies (10 papers), Tracheal and airway disorders (10 papers) and Genomic variations and chromosomal abnormalities (7 papers). Silke Pauli collaborates with scholars based in Germany, United States and Switzerland. Silke Pauli's co-authors include Johannes Häberle, Annette Borchers, Hans Georg Koch, Peter Burfeind, Hans‐Georg Koch, Conny M.A. van Ravenswaaij‐Arts, Erik Harms, Peter Wehner, Jürgen Kohlhase and Gabriela Salinas-Riester and has published in prestigious journals such as Journal of Clinical Oncology, PLoS ONE and Human Molecular Genetics.

In The Last Decade

Silke Pauli

38 papers receiving 709 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Silke Pauli Germany 16 438 214 171 161 125 39 723
Benjamin I. Rubin United States 12 202 0.5× 100 0.5× 69 0.4× 120 0.7× 71 0.6× 14 806
Delphine Bacq France 10 522 1.2× 304 1.4× 62 0.4× 27 0.2× 64 0.5× 12 888
Dorota Piekutowska‐Abramczuk Poland 17 773 1.8× 181 0.8× 48 0.3× 353 2.2× 34 0.3× 59 1.0k
Rıza Köksal Özgül Türkiye 17 457 1.0× 194 0.9× 29 0.2× 183 1.1× 36 0.3× 69 873
A Munnich France 14 685 1.6× 347 1.6× 43 0.3× 216 1.3× 32 0.3× 37 1.1k
Julie S. Fryburg United States 12 341 0.8× 412 1.9× 48 0.3× 110 0.7× 41 0.3× 25 790
Salma Ben‐Salem United Arab Emirates 13 256 0.6× 209 1.0× 30 0.2× 37 0.2× 39 0.3× 26 470
Maartje van de Vorst Netherlands 9 360 0.8× 186 0.9× 58 0.3× 90 0.6× 30 0.2× 13 593
Jun‐ichi Nozaki Japan 13 160 0.4× 91 0.4× 218 1.3× 28 0.2× 207 1.7× 23 698
Manuèle Miné France 17 362 0.8× 110 0.5× 29 0.2× 105 0.7× 16 0.1× 27 612

Countries citing papers authored by Silke Pauli

Since Specialization
Citations

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

Fields of papers citing papers by Silke Pauli

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Silke Pauli

This figure shows the co-authorship network connecting the top 25 collaborators of Silke Pauli. A scholar is included among the top collaborators of Silke Pauli 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 Silke Pauli. Silke Pauli 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.
2.
Berger, Hanna, et al.. (2024). Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. Disease Models & Mechanisms. 17(6). 4 indexed citations
3.
Kaulfuß, Silke, Sabrina Zechel, Ali Seif Amir Hosseini, et al.. (2022). Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis. Frontiers in Neurology. 13. 893605–893605. 1 indexed citations
4.
Pauli, Silke, Hanna Berger, Roser Ufartes, & Annette Borchers. (2021). Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome. Frontiers in Cell and Developmental Biology. 9. 779009–779009. 9 indexed citations
5.
Ufartes, Roser, et al.. (2021). CHARGE syndrome and related disorders: a mechanistic link. Human Molecular Genetics. 30(23). 2215–2224. 4 indexed citations
6.
7.
Ufartes, Roser, Christiane Neuhofer, Janika Möller, et al.. (2018). Sema3a plays a role in the pathogenesis of CHARGE syndrome. Human Molecular Genetics. 27(8). 1343–1352. 20 indexed citations
8.
Smogavec, Mateja, et al.. (2018). Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22. Molecular Cytogenetics. 11(1). 62–62. 9 indexed citations
9.
Wehner, Peter, Lennart Opitz, Gabriela Salinas-Riester, et al.. (2014). CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Human Genetics. 133(8). 997–1009. 88 indexed citations
10.
Pauli, Silke, Thomas M. Schmidt, Barbara Zoll, et al.. (2012). Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes. European Journal of Medical Genetics. 55(8-9). 480–484. 9 indexed citations
11.
Pauli, Silke, Doris Steinemann, Jürgen Wienands, et al.. (2012). Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. American Journal of Medical Genetics Part A. 158A(3). 652–658. 10 indexed citations
12.
Pauli, Silke, et al.. (2011). CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Clinical Genetics. 81(3). 234–239. 19 indexed citations
13.
Pieper, Lindsey M., Sigrid Hoyer‐Fender, Miriam Elbracht, et al.. (2010). CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Human Molecular Genetics. 19(14). 2858–2866. 57 indexed citations
14.
Pauli, Silke, et al.. (2009). Proven germline mosaicism in a father of two children with CHARGE syndrome. Clinical Genetics. 75(5). 473–479. 23 indexed citations
15.
Häberle, Johannes, et al.. (2009). TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. Journal of Human Genetics. 54(6). 331–334. 12 indexed citations
16.
Pauli, Silke, Thomas Vogl, Wolfgang Höhne, et al.. (2008). Investigation of citrullinemia type I variants by in vitro expression studies. Human Mutation. 29(10). 1222–1227. 35 indexed citations
17.
Haag, Christine, Silke Pauli, Egbert Schulze, Karin Frank‐Raue, & Friedhelm Raue. (2008). Hyperparathyroidism-jaw tumor syndrome (HPT-JT): a new mutation in the HRPT2-gene. 16(1). 56–67. 3 indexed citations
18.
Schmidt, Éva, Jean‐Marc Nuoffer, Johannes Häberle, et al.. (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1740(1). 54–59. 21 indexed citations
19.
Häberle, Johannes, Éva Schmidt, Silke Pauli, et al.. (2003). Mutation analysis in patients with N-acetylglutamate synthase deficiency. Human Mutation. 21(6). 593–597. 39 indexed citations
20.
Häberle, Johannes, Silke Pauli, Michael Linnebank, et al.. (2002). Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Human Genetics. 110(4). 327–333. 47 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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