Stephanie Demuth

1.0k total citations
11 papers, 407 citations indexed

About

Stephanie Demuth is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Stephanie Demuth has authored 11 papers receiving a total of 407 indexed citations (citations by other indexed papers that have themselves been cited), including 8 papers in Molecular Biology, 8 papers in Genetics and 2 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Stephanie Demuth's work include Genetics and Neurodevelopmental Disorders (4 papers), Genetic Syndromes and Imprinting (2 papers) and Prenatal Screening and Diagnostics (2 papers). Stephanie Demuth is often cited by papers focused on Genetics and Neurodevelopmental Disorders (4 papers), Genetic Syndromes and Imprinting (2 papers) and Prenatal Screening and Diagnostics (2 papers). Stephanie Demuth collaborates with scholars based in Germany, United Kingdom and Belgium. Stephanie Demuth's co-authors include U Theile, Bernhard Horsthemke, Hannelore Thiele, Christina Lich, Gabriele Gillessen‐Kaesbach, Ilaria D’Amato, Alex Zvulunov, Brunella Franco, Roberta Tammaro and Isabelle Maystadt and has published in prestigious journals such as The Journal of Clinical Endocrinology & Metabolism, The American Journal of Human Genetics and Journal of Neurology Neurosurgery & Psychiatry.

In The Last Decade

Stephanie Demuth

11 papers receiving 378 citations

Peers

Stephanie Demuth

GENET

PPCH

EEE

Magdalena Pajdowska Poland

Seyoung Yu South Korea

Tomoko Lee Japan

Larry D. Spears United States

Shuntaro Morikawa Japan

P. S. Pedersen Denmark

Mohammad Yahya Vahidi Mehrjardi Iran

Sue Forrest Australia

M. DiRocco Italy

Yo Okizuka Japan

Magdalena Pajdowska Poland

Stephanie Demuth

316 ×1.2

76 ×0.4

GENET

34 ×0.6

PPCH

4 ×0.1

EEE

209 ×6.5

Citations per year, relative to Stephanie Demuth Stephanie Demuth (= 1×) peers Magdalena Pajdowska

Countries citing papers authored by Stephanie Demuth

Since Specialization

Citations

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

Fields of papers citing papers by Stephanie Demuth

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Stephanie Demuth

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

All Works

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11 of 11 papers shown

Wehner, Maria, Holger Thiele, Stephanie Demuth, et al.. (2024). A nonsense variant in KRT31 is associated with autosomal dominant monilethrix. British Journal of Dermatology. 191(6). 979–987. 2 indexed citations

Meyer, Robert, Matthias Begemann, Alma Kuechler, et al.. (2021). One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome. Orphanet Journal of Rare Diseases. 16(1). 42–42. 17 indexed citations

Meyer, Robert, Matthias Begemann, Stephanie Demuth, et al.. (2020). Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Clinical Genetics. 98(4). 408–412. 11 indexed citations

Demuth, Stephanie, et al.. (2019). Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome. Molecular Syndromology. 10(4). 223–228. 8 indexed citations

Horn, Denise, Dagmar Wieczorek, Kay Metcalfe, et al.. (2013). Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. European Journal of Human Genetics. 22(6). 762–767. 31 indexed citations

Indrieri, Alessia, Valeria Tiranti, Manuela Morleo, et al.. (2012). Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease. The American Journal of Human Genetics. 91(5). 942–949. 102 indexed citations

Horváth, Rita, Birgit Czermin, Stephanie Demuth, et al.. (2011). Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3. Journal of Neurology Neurosurgery & Psychiatry. 83(2). 174–178. 79 indexed citations

Castanet, Mireille, Uma Mallya, Maura Agostini, et al.. (2010). Maternal Isodisomy for Chromosome 9 Causing Homozygosity for a NovelFOXE1Mutation in Syndromic Congenital Hypothyroidism. The Journal of Clinical Endocrinology & Metabolism. 95(8). 4031–4036. 35 indexed citations

Tzschach, Andreas, Christina Kelbova, Hartmut Peters, et al.. (2008). Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23). Ophthalmic Genetics. 29(1). 37–40. 6 indexed citations

10.

Robinson, Peter N., Luitgard M. Neumann, Stephanie Demuth, et al.. (2005). Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis. American Journal of Medical Genetics Part A. 135A(3). 251–262. 54 indexed citations

11.

Gillessen‐Kaesbach, Gabriele, Stephanie Demuth, Hannelore Thiele, et al.. (1999). A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. European Journal of Human Genetics. 7(6). 638–644. 62 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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