Stephanie Spranger

3.1k total citations
34 papers, 860 citations indexed

About

Stephanie Spranger is a scholar working on Genetics, Molecular Biology and Genetics. According to data from OpenAlex, Stephanie Spranger has authored 34 papers receiving a total of 860 indexed citations (citations by other indexed papers that have themselves been cited), including 23 papers in Genetics, 22 papers in Molecular Biology and 4 papers in Genetics. Recurrent topics in Stephanie Spranger's work include Genomic variations and chromosomal abnormalities (8 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (5 papers). Stephanie Spranger is often cited by papers focused on Genomic variations and chromosomal abnormalities (8 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (5 papers) and Genetics and Neurodevelopmental Disorders (5 papers). Stephanie Spranger collaborates with scholars based in Germany, United States and Switzerland. Stephanie Spranger's co-authors include Tim M. Strom, Thomas Meitinger, Gholamali Tariverdian, Matthias Spranger, Gudrun Rappold, Peter Freisinger, Víctor L. Ruiz‐Pérez, Clair A. Francomano, Susan Ide and Bruno Dallapiccola and has published in prestigious journals such as Nature Genetics, Neurology and PEDIATRICS.

In The Last Decade

Stephanie Spranger

31 papers receiving 835 citations

Peers

Stephanie Spranger
Olaf Rittinger Austria
Gurbax S. Sekhon United States
Jacqueline Siegel‐Bartelt Canada
Chantal Missirian France
Stavit A. Shalev Israel
Ghazala Mirza United Kingdom
N R Dennis United Kingdom
Carol A. Crowe United States
Rudolf A. Pfeiffer Germany
Marie‐France Portnoï France
Olaf Rittinger Austria
Stephanie Spranger
Citations per year, relative to Stephanie Spranger Stephanie Spranger (= 1×) peers Olaf Rittinger

Countries citing papers authored by Stephanie Spranger

Since Specialization
Citations

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

Fields of papers citing papers by Stephanie Spranger

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Stephanie Spranger

This figure shows the co-authorship network connecting the top 25 collaborators of Stephanie Spranger. A scholar is included among the top collaborators of Stephanie Spranger 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 Stephanie Spranger. Stephanie Spranger 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.
Grasshoff, Ute & Stephanie Spranger. (2024). Humangenetische Diagnostik und Beratung - wer, wann und wie?. Pädiatrie. 36(1). 22–31.
2.
Kuechler, Alma, Tabib Dabir, Stephanie Spranger, et al.. (2023). Novel Variants of SOX4 in Patients with Intellectual Disability. International Journal of Molecular Sciences. 24(4). 3519–3519. 2 indexed citations
3.
Becker, Lena‐Luise, Hormos Salimi Dafsari, Jens Schallner, et al.. (2020). The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification. Journal of Human Genetics. 65(11). 1003–1017. 31 indexed citations
4.
Schwemmle, C., Imma Rost, Stephanie Spranger, M. Jungheim, & M. Ptok. (2014). A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: A case report and review of the literature. International Journal of Pediatric Otorhinolaryngology. 78(7). 1190–1193. 3 indexed citations
5.
Grüner, Barbara M., Stephanie Spranger, Adrian M. Stütz, et al.. (2013). Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biology. 32(7-8). 387–392. 17 indexed citations
6.
Bartels, Enrika, Markus Draaken, Bernd Kazmierczak, et al.. (2011). De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation. Cytogenetic and Genome Research. 134(3). 243–248. 9 indexed citations
7.
Wagenstaller, Janine, Stephanie Spranger, Bettina Lorenz‐Depiereux, et al.. (2007). Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation. The American Journal of Human Genetics. 81(4). 768–779. 93 indexed citations
8.
Borozdin, Wiktor, Michael J. Bamshad, Elke Botzenhart, et al.. (2006). Expanding the spectrum ofTBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Human Mutation. 27(9). 975–976. 33 indexed citations
9.
Eggermann, Thomas, W. Marg, Susanne Mergenthaler, et al.. (2001). Origin of uniparental disomy 6: presentation of a new case and review on the literature. Annales de Génétique. 44(1). 41–45. 19 indexed citations
10.
Ruiz‐Pérez, Víctor L., Susan Ide, Tim M. Strom, et al.. (2000). Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics. 24(3). 283–286. 224 indexed citations
11.
Spranger, Stephanie, et al.. (2000). Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation. American Journal of Medical Genetics. 93(2). 107–109. 19 indexed citations
12.
Schiller, Simone, Stephanie Spranger, Birgit Schechinger, et al.. (2000). Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome. European Journal of Human Genetics. 8(1). 54–62. 115 indexed citations
13.
Spranger, Matthias, Birgit Janssen, D. Rating, & Stephanie Spranger. (1999). Das Krankheitsbild der myotonen Muskeldystrophie bei Patienten mit großer CTG-Tripletexpansion. Der Nervenarzt. 70(2). 131–135. 7 indexed citations
14.
Spranger, Stephanie, et al.. (1999). L�ri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. American Journal of Medical Genetics. 83(5). 367–371. 29 indexed citations
15.
Giunta, Cecilia, Andrea Superti‐Furga, Stephanie Spranger, William G. Cole, & Beat Steinmann. (1999). Ehlers-Danlos Syndrome Type VII. Journal of Bone and Joint Surgery. 81(2). 225–238. 44 indexed citations
16.
Spranger, Stephanie, et al.. (1997). Barraquer-Simons syndrome (with sensorineural deafness): A contribution to the differential diagnosis of lipodystrophy syndromes. American Journal of Medical Genetics. 71(4). 397–400. 11 indexed citations
17.
Spranger, Matthias, et al.. (1996). Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?. Clinical Genetics. 50(4). 229–231. 4 indexed citations
18.
Wildermuth, Susanne, Stephanie Spranger, Matthias Spranger, Friedhelm Raue, & Hans‐Michael Meinck. (1996). K�bberling-Dunnigan syndrome: A rare cause of generalized muscular hypertrophy. Muscle & Nerve. 19(7). 843–847. 11 indexed citations
19.
Spranger, Stephanie, Matthias Spranger, Hans‐Michael Meinck, & Gholamali Tariverdian. (1995). Two sisters with Escobar syndrome. American Journal of Medical Genetics. 57(3). 425–428. 30 indexed citations
20.
Spranger, Stephanie & Gholamali Tariverdian. (1995). Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?. Clinical Genetics. 47(4). 217–220. 13 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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