Nadja Ehmke

1.7k total citations
16 papers, 236 citations indexed

About

Nadja Ehmke is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Nadja Ehmke has authored 16 papers receiving a total of 236 indexed citations (citations by other indexed papers that have themselves been cited), including 10 papers in Genetics, 7 papers in Molecular Biology and 2 papers in Surgery. Recurrent topics in Nadja Ehmke's work include Genomics and Rare Diseases (7 papers), Connective tissue disorders research (3 papers) and Genomic variations and chromosomal abnormalities (3 papers). Nadja Ehmke is often cited by papers focused on Genomics and Rare Diseases (7 papers), Connective tissue disorders research (3 papers) and Genomic variations and chromosomal abnormalities (3 papers). Nadja Ehmke collaborates with scholars based in Germany, France and Austria. Nadja Ehmke's co-authors include Björn Fischer‐Zirnsak, Dominik Seelow, Denise Horn, Stefan Mundlos, Uwe Kornak, Ellen Knierim, Manuel Holtgrewe, Peter Krawitz, Felix Boschann and Markus Schuelke and has published in prestigious journals such as Nucleic Acids Research, The Journal of Clinical Endocrinology & Metabolism and Journal of Medical Genetics.

In The Last Decade

Nadja Ehmke

15 papers receiving 224 citations

Peers

Countries citing papers authored by Nadja Ehmke

Since Specialization

Citations

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

Fields of papers citing papers by Nadja Ehmke

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Nadja Ehmke

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

All Works

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16 of 16 papers shown

#	Work	Indexed citations
1	Novel Biallelic SQSTM1 Mutation Causing a Subacute‐Onset Complex Movement Disorder with Oculomotor Abnormalities 2025 ·Movement Disorders Clinical Practice ·(unknown), (unknown), Jonas Leubner, Felix Boschann, Nadja Ehmke, Christoph J. Ploner, Tina Mainka, Markus Schuelke, Andrea A. Kühn	0
2	Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy 2024 ·Human Genetics ·(unknown), (unknown), (unknown), (unknown), Manuel Holtgrewe, Andranik Ivanov, Christèle Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer‐Zirnsak	2
3	REEV: review, evaluate and explain variants 2024 ·Nucleic Acids Research ·(unknown), (unknown), (unknown), (unknown), Mikko Nieminen, R. Adam, Magdalena Danyel, (unknown), René Hägerling, Alexej Knaus, Stefan Mundlos, (unknown), Dominik Seelow, Nadja Ehmke, Martin A. Mensah, Felix Boschann, Dieter Beule, Manuel Holtgrewe	1
4	Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders 2022 ·The Journal of Clinical Endocrinology & Metabolism ·Ralf Oheim, Elena Tsourdi, Lothar Seefried, Gisela Beller, Max Schubach, Eik Vettorazzi, Julian Stürznickel, Tim Rolvien, Nadja Ehmke, (unknown), Franca Genest, Ulrike Krüger, Tomasz Żemojtel, Florian Barvencik, Thorsten Schinke, Franz Jakob, Lorenz C. Hofbauer, Stefan Mundlos, Uwe Kornak	18
5	CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph 2021 ·NAR Genomics and Bioinformatics ·(unknown), (unknown), Alexander Schmid, Ashar Ahmad, Alexej Knaus, (unknown), (unknown), Birgit Zirn, Tobias B. Haack, Stephan Ossowski, Matias Wagner, Theresa Brunet, Nadja Ehmke, Magdalena Danyel, (unknown), Tom Kamphans, Guy Nadav, Nicole Fleischer, Holger Fröhlich, Peter Krawitz	15
6	Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive 2021 ·Journal of Medical Genetics ·(unknown), (unknown), (unknown), Nadja Ehmke, (unknown), (unknown), Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, (unknown), Michael R. Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer‐Zirnsak, Felix Boschann	12
7	Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly 2021 ·Genetics in Medicine ·Denise Horn, (unknown), (unknown), (unknown), Julián Nevado, (unknown), Nadja Ehmke, Pablo Lapunzina, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Felix Boschann, Víctor L. Ruiz‐Pérez	5
8	Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals 2020 ·American Journal of Medical Genetics Part A ·(unknown), Fernando Santos‐Simarro, (unknown), (unknown), (unknown), Karen E. Heath, (unknown), Manuel Parrón, Martin A. Mensah, Wiebke Hülsemann, Manuel Holtgrewe, Stefan Mundlos, Uwe Kornak, Oliver Bartsch, Nadja Ehmke	5
9	VarFish: comprehensive DNA variant analysis for diagnostics and research 2020 ·Nucleic Acids Research ·Manuel Holtgrewe, (unknown), Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, (unknown), Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule	33
10	MutationDistiller: user-driven identification of pathogenic DNA variants 2019 ·Nucleic Acids Research ·(unknown), Markus Schuelke, Ellen Knierim, Nadja Ehmke, Jana Marie Schwarz, Björn Fischer‐Zirnsak, Dominik Seelow	31
11	TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy 2019 ·American Journal of Medical Genetics Part A ·Felix Boschann, Kyra E. Stuurman, Christiaan de Bruin, Marjon van Slegtenhorst, Hermine A. van Duyvenvoorde, Sarina G. Kant, Nadja Ehmke	4
12	Regulatory variants of FOXG1 in the context of its topological domain organisation 2017 ·European Journal of Human Genetics ·Mana M. Mehrjouy, (unknown), Nadja Ehmke, Giorgio Adriano Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, (unknown), Carlos E. Speck‐Martins, Angela Maria Vianna‐Morgante, Mads Bak, Niels Tommerup	16
13	A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6‐year‐old female 2017 ·American Journal of Medical Genetics Part A ·Nadja Ehmke, (unknown), Johannes Buchmann, (unknown), Denise Horn, Olaf Reis, Frank Häßler	18
14	Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus 2017 ·American Journal of Medical Genetics Part A ·Katharina Schoner, R. Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke	6
15	Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy 2017 ·Arthritis & Rheumatology ·Luciana Martins de Carvalho, (unknown), Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi, Isabelle Melki, (unknown), Andreas Tzschach, Marcello Henrique Nogueira‐Barbosa, Virgínia Paes Leme Ferriani, Paulo Louzada‐Júnior, Wilson Marques, Charles Marques Lourenço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Sun Hur, Gillian Rice, Yanick J. Crow	41
16	First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature 2014 ·American Journal of Medical Genetics Part A ·Nadja Ehmke, Nima Parvaneh, Peter Krawitz, Mahmoud Reza Ashrafi, Parviz Karimi, Mehrzad Mehdizadeh, Ulrike Krüger, Jochen Hecht, Stefan Mundlos, Peter N. Robinson	29

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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