Katja Eggermann

2.3k citations

44 papers · 1.2k indexed · h-index 20

Impact in

Genetics top 2%
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
Pediatrics, Perinatology and Child Health top 5%
- Prenatal Screening and Diagnostics

Papers in ⓘ

Genetics 9
- Genetic Syndromes and Imprinting 15
- Neurogenetic and Muscular Disorders Research 9
- Genomic variations and chromosomal abnormalities 9
Pediatrics, Perinatology and Child Health 13
- Prenatal Screening and Diagnostics 13

Co-authors: Thomas Eggermann (26 shared papers)Klaus Zerres (13 shared papers)Nadine Schönherr (4 shared papers)H Wollmann (8 shared papers)Michael B. Ranke (7 shared papers)Sabine Rudnik‐Schöneborn (9 shared papers)Brunhilde Wirth (5 shared papers)Peter Kaiser (6 shared papers)
Journals: Clinical Genetics (6 papers)European Journal of Medical Genetics (2 papers)Neuromuscular Disorders (2 papers)Journal of Neuromuscular Diseases (2 papers)Journal of Medical Genetics (2 papers)
Partner nations: Germany Poland Hungary

In The Last Decade

Katja Eggermann

43 papers receiving 1.1k citations

Peers

Countries citing papers authored by Katja Eggermann

Since Specialization

Citations

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

Fields of papers citing papers by Katja Eggermann

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Katja Eggermann, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Katja Eggermann Line = papers co-authored together Katja Eggermann links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 44 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Congenital heart disease is a feature of severe infantile spinal muscular atrophy Journal of Medical Genetics ·Sabine Rudnik‐Schöneborn, Raoul Heller, C Berg, Christopher Betzler, T. Grimm, Thomas Eggermann, Katja Eggermann, Radu Wirth, Brunhilde Wirth, Klaus Zerres	2008	144
2	Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy Human Genetics ·Thomas Eggermann, H Wollmann, Ruprecht Kuner, Katja Eggermann, H. Enders, Peter Kaiser, Michael B. Ranke	1997	110
3	Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome Trends in Genetics ·Thomas Eggermann, Katja Eggermann, Nadine Schönherr	2008	84
4	Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years Orphanet Journal of Rare Diseases ·Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller‐Felber	2021	84
5	Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients Clinical Genetics ·Sabine Rudnik‐Schöneborn, D.V. Tolle, Jan Senderek, Katja Eggermann, Miriam Elbracht, Uwe Kornak, Maja von der Hagen, Janbernd Kirschner, Barbara Leube, Wolfgang Müller‐Felber, Ulrike Schara, Katja von Au, Dagmar Wieczorek, Caroline Bußmann, Klaus Zerres	2015	64
6	Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases Clinical Genetics ·Katja Eggermann, UA Mau, G Bujdosó, Erika Koltai, Hartmut Engels, Regine Schubert, Thomas Eggermann, Ruth Raff, Gesa Schwanitz	2002	56
7	Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling Clinical Genetics ·Sabine Rudnik‐Schöneborn, C Berg, Klaus Zerres, Christopher Betzler, T. Grimm, Thomas Eggermann, Katja Eggermann, Radu Wirth, Brunhilde Wirth, Raoul Heller	2009	55
8	Hereditary Neuropathies Deutsches Ärzteblatt international ·Katja Eggermann, Burkhard Gess, Martin Häusler, Joachim Weis, Andreas Hahn, Ingo Kurth	2018	45
9	Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study Therapeutic Advances in Neurological Disorders ·Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß, Katja Eggermann, Barbara Namer, Franziska Gross, Alexander Klitsch, Tobias Malzacher, Daniel Kampik, Rayaz A. Malik, Ingo Kurth, Claudia Sommer, Nurcan Üçeyler	2021	43
10	Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden? Journal of Neuromuscular Diseases ·Wolfgang Müller‐Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Christine Müller, Iris Hannibal, B. Olgemöller, Ulrike Schara, Astrid Blaschek, Heike Kölbel	2020	42
11	(Epi)mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they generally involved in growth retardation? European Journal of Medical Genetics ·Nadine Schönherr, Esther Meyer, Katja Eggermann, Michael B. Ranke, H Wollmann, Thomas Eggermann	2006	38
12	Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature Annales de Génétique ·Susanne Mergenthaler, H Wollmann, Bettina Burger, Katja Eggermann, Peter Kaiser, Michael B. Ranke, Gesa Schwanitz, Thomas Eggermann	2000	36
13	Use of multiplex ligation‐dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome Clinical Genetics ·Thomas Eggermann, Nadine Schönherr, Katja Eggermann, Karin Buiting, MB Ranke, HA Wollmann, Gerhard Binder	2007	35
14	Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. Journal of Medical Genetics ·Thomas Eggermann, Katja Eggermann, Susanne Mergenthaler, Ruprecht Kuner, Peter Kaiser, Michael B. Ranke, H Wollmann	1998	25
15	Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion Neurology ·Nina Hirt, Katja Eggermann, Sonja Hyrenbach, Johann Lambeck, Andreas Busche, Judith Fischer, Sabine Rudnik‐Schöneborn, Harald Gaspar	2015	22
16	A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p) Cytogenetic and Genome Research ·Andreas Dufke, Katja Eggermann, S. Balg, S. Stengel‐Rutkowski, H. Enders, Peter Kaiser	2000	20
17	Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease Clinical Nephrology ·Christa Schmidt, Alexandra Albers, Juergen Tomiuk, Katja Eggermann, Carsten A. Wagner, Giovambattista Capasso, Sven Lahme, Albrecht Hesse, Florian Läng, Klaus Zerres, Thomas Eggermann	2002	20
18	NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features Clinical Genetics ·Jana Sachwitz, Robert Meyer, G. Fekete, Stephanie Spranger, Aušra Matulevičienė, Vaidutis Kučinskas, A. Bach, Andrea Luczay, Nadina Ortiz Brüchle, Katja Eggermann, Klaus Zerres, Miriam Elbracht, Thomas Eggermann	2016	20
19	Molecular pathophysiology of human MICU1 deficiency Neuropathology and Applied Neurobiology ·Nicolai Kohlschmidt, Miriam Elbracht, Artur Czech, Martin Häusler, Vietxuan Phan, Ana Töpf, Kai‐Ting Huang, Ádám Bartók, Katja Eggermann, Stephanie Zippel, Thomas Eggermann, Erik Freier, Claudia Groß, Hanns Lochmüller, Rita Horváth, György Hajnóczky, Joachim Weis, Andreas Roos	2021	20
20	Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies? Journal of Neuromuscular Diseases ·Astrid Blaschek, Heike Kölbel, Oliver Schwartz, Cornelia Köhler, Dieter Gläser, Katja Eggermann, Iris Hannibal, Ulrike Schara‐Schmidt, Wolfgang Müller‐Felber, Katharina Vill	2022	20

About Katja Eggermann

Katja Eggermann is a scholar working on Genetics, Genetics, Pediatrics, Perinatology and Child Health, Molecular Biology and Neurology, having authored 44 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genetic Syndromes and Imprinting (15 papers), Prenatal Screening and Diagnostics (13 papers), Epigenetics and DNA Methylation (10 papers), Neurogenetic and Muscular Disorders Research (9 papers), Genomic variations and chromosomal abnormalities (9 papers), RNA modifications and cancer (8 papers), Congenital Anomalies and Fetal Surgery (6 papers) and Hereditary Neurological Disorders (4 papers). The work is most often cited by research in Genetics (399 citations), Genetics (527 citations), Pediatrics, Perinatology and Child Health (360 citations), Molecular Biology (703 citations) and Cellular and Molecular Neuroscience (135 citations). Katja Eggermann has collaborated with scholars based in Germany, Poland and Hungary. Frequent co-authors include Thomas Eggermann, Klaus Zerres, Nadine Schönherr, H Wollmann, Michael B. Ranke, Sabine Rudnik‐Schöneborn, Brunhilde Wirth, Peter Kaiser, Christopher Betzler and Raoul Heller. Their work appears in journals such as Clinical Genetics, European Journal of Medical Genetics, Neuromuscular Disorders, Journal of Neuromuscular Diseases and Journal of Medical Genetics.

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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