Fanny Kortüm

2.4k total citations
29 papers, 558 citations indexed

About

Fanny Kortüm is a scholar working on Molecular Biology, Genetics and Cell Biology. According to data from OpenAlex, Fanny Kortüm has authored 29 papers receiving a total of 558 indexed citations (citations by other indexed papers that have themselves been cited), including 22 papers in Molecular Biology, 11 papers in Genetics and 6 papers in Cell Biology. Recurrent topics in Fanny Kortüm's work include Genomics and Rare Diseases (4 papers), Congenital heart defects research (4 papers) and Ion channel regulation and function (4 papers). Fanny Kortüm is often cited by papers focused on Genomics and Rare Diseases (4 papers), Congenital heart defects research (4 papers) and Ion channel regulation and function (4 papers). Fanny Kortüm collaborates with scholars based in Germany, United States and India. Fanny Kortüm's co-authors include Kerstin Kutsche, Malik Alawi, Denise Horn, Dagmar Wieczorek, Georg Rosenberger, Soma Das, Iliyana Stefanova, Déborah Morris-Rosendahl, Eva Klopocki and Peter Martin and has published in prestigious journals such as PLoS ONE, PEDIATRICS and Scientific Reports.

In The Last Decade

Fanny Kortüm

25 papers receiving 540 citations

Peers

Fanny Kortüm
Krzysztof Szczałuba Poland
Gerarda Cappuccio Italy
Chantal Missirian France
Viola Alesi Italy
Megan T. Cho United States
Sérgio B. Sousa Portugal
Katharina Steindl Switzerland
Nathalie Van der Aa Belgium
Damien Lederer Belgium
Tatjana Bierhals Germany
Krzysztof Szczałuba Poland
Fanny Kortüm
Citations per year, relative to Fanny Kortüm Fanny Kortüm (= 1×) peers Krzysztof Szczałuba

Countries citing papers authored by Fanny Kortüm

Since Specialization
Citations

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

Fields of papers citing papers by Fanny Kortüm

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Fanny Kortüm

This figure shows the co-authorship network connecting the top 25 collaborators of Fanny Kortüm. A scholar is included among the top collaborators of Fanny Kortüm 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 Fanny Kortüm. Fanny Kortüm 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.
Harms, Frederike L., Christian Müller, Fanny Kortüm, et al.. (2025). Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes. European Journal of Human Genetics. 33(12). 1616–1626.
2.
Harms, Frederike L., et al.. (2025). A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements. Human Genetics and Genomics Advances. 7(1). 100528–100528.
3.
Fernández‐Quintero, Monica L., Marta Campiglio, Petronel Tuluc, et al.. (2025). Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity. PLoS Genetics. 21(8). e1011828–e1011828.
4.
Yan, Isabell, Daniel Reichart, Fanny Kortüm, et al.. (2025). Lower Left Ventricular Ejection Time in MYBPC3 Variant Carriers with Overt or Subclinical Hypertrophic Cardiomyopathy. ESC Heart Failure. 12(5). 3416–3425. 1 indexed citations
5.
Ven, Amelie T. van der, Jessika Johannsen, Fanny Kortüm, et al.. (2021). Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clinical Genetics. 100(6). 766–770. 8 indexed citations
6.
Blohm, Martin, Fanny Kortüm, Tatjana Bierhals, et al.. (2021). Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis. Neonatology. 118(4). 454–461. 18 indexed citations
7.
Kloth, Katja, Luitgard Graul‐Neumann, Katharina Hermann, et al.. (2021). More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly. Neurogenetics. 22(3). 221–224. 3 indexed citations
8.
Kortüm, Fanny, Marcello Niceta, Stephen P. Robertson, et al.. (2020). Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. European Journal of Medical Genetics. 63(9). 103996–103996. 8 indexed citations
9.
Xu, Le, Frederike L. Harms, Venkat R. Chirasani, et al.. (2020). Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia. Cell Calcium. 87. 102182–102182. 4 indexed citations
10.
Knaus, Alexej, Fanny Kortüm, Tjitske Kleefstra, et al.. (2019). Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. The American Journal of Human Genetics. 105(2). 395–402. 35 indexed citations
11.
Bauer, Christiane K., Fanny Kortüm, Janine Altmüller, et al.. (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. The American Journal of Human Genetics. 104(6). 1139–1157. 40 indexed citations
12.
Johannsen, Jessika, Fanny Kortüm, Georg Rosenberger, et al.. (2018). A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay. Neurogenetics. 19(3). 151–156. 18 indexed citations
13.
Kortüm, Fanny, Rami Abou Jamra, Malik Alawi, et al.. (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European Journal of Human Genetics. 26(5). 695–708. 23 indexed citations
14.
Vogel, Markus, Eunike Velleuer, Ertan Mayatepek, et al.. (2016). Homozygous HOXB1 loss‐of‐function mutation in a large family with hereditary congenital facial paresis. American Journal of Medical Genetics Part A. 170(7). 1813–1819. 21 indexed citations
15.
Girisha, Katta M., Fanny Kortüm, Hitesh Shah, et al.. (2015). A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics. 24(8). 1206–1210. 14 indexed citations
16.
Kortüm, Fanny, et al.. (2015). αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor. PLoS ONE. 10(7). e0132737–e0132737. 5 indexed citations
17.
Kortüm, Fanny, et al.. (2014). Interventionelle Schmerztherapie. Der Schmerz. 28(6). 591–599. 2 indexed citations
18.
Schmidt, Thomas M., Tatjana Bierhals, Fanny Kortüm, et al.. (2013). Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8. Cytogenetic and Genome Research. 142(1). 1–6. 18 indexed citations
19.
Kortüm, Fanny, Sigrid Fuchs, Beate Albrecht, et al.. (2011). Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. Molecular Syndromology. 2(1). 27–34. 7 indexed citations
20.
Kortüm, Fanny, Soma Das, Déborah Morris-Rosendahl, et al.. (2011). The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics. 48(6). 396–406. 179 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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