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Thomas Eggermann

Thomas Eggermann

D-Index & Metrics

Genetics

D-Index
69
Citations
15503
World Ranking
2363
National Ranking
172

Overview

Thomas Eggermann is affiliated with RWTH Aachen University in Germany, where their research primarily spans biochemistry, genetics, and molecular biology, with an additional focus on medicine. Their scholarly output reflects extensive work in several related subfields and topics, emphasizing the genetic and molecular basis of clinical conditions.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Subfields of particular activity are:

  • Genetics
  • Molecular Biology
  • Pediatrics, Perinatology and Child Health
  • Pathology and Forensic Medicine
  • Public Health, Environmental and Occupational Health

Research topics frequently addressed in their work are:

  • Genetic Syndromes and Imprinting
  • Epigenetics and DNA Methylation
  • Prenatal Screening and Diagnostics
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • RNA modifications and cancer
  • Genomics and Rare Diseases

Thomas Eggermann has contributed to a number of peer-reviewed publications. Notable recent papers include:

  • "Imprinting disorders," 2023, Nature Reviews Disease Primers
  • "Swarm Learning for decentralized and confidential clinical machine learning," 2021, Nature
  • "Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences," 2020, Human Reproduction Update
  • "Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients," 2020, Hormone Research in Paediatrics
  • "Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study," 2020, British Journal of Cancer

Their frequent co-authors include:

  • Miriam Elbracht
  • Matthias Begemann
  • Ingo Kurth
  • Florian Kraft
  • Robert Meyer

Thomas Eggermann has published extensively in particular academic journals, such as:

  • Clinical Epigenetics
  • Medizinische Genetik
  • Clinical Genetics
  • Genes
  • Orphanet Journal of Rare Diseases

Best Publications

  • PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

    Luiz F. Onuchic;Laszlo Furu;Yasuyuki Nagasawa;Xiaoying Hou

  • Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

    Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster

  • Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

    Y. Okada;X. Sim;X. Sim;M. J. Go;J. Y. Wu;J. Y. Wu

  • Genetic loci influencing kidney function and chronic kidney disease

    John C Chambers;Weihua Zhang;Graham M Lord;Graham M Lord;Pim van der Harst

  • Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

    Dave Nicholas Monk;Deborah J. G Mackay;Thomas Eggermann;Eamonn R. Maher

  • Mapping of the Gene for Autosomal Recessive Polycystic Kidney-disease (arpkd) To Chromosome 6p21-cen

    K. Zerres;Yves Pirson;G. Mucher;L. Bachner

  • Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

    Robert Kleta;Elisa Romeo;Zorica Ristic;Toshihiro Ohura

  • Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Giovanna Mantovani;Murat Bastepe;David Monk;Luisa de Sanctis

  • Congenital heart disease is a feature of severe infantile spinal muscular atrophy

    Sabine Rudnik-Schöneborn;Raoul Heller;Corinna Berg;Christopher Betzler

  • Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

    Carsten Bergmann;Jan Senderek;Beate Sedlacek;Ioannis Pegiazoglou

  • Paternally Inherited IGF2 Mutation and Growth Restriction

    Begemann M;Zirn B;Santen G;Wirthgen E

  • Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

    Thomas Eggermann;Hartmut A. Wollmann;Ruprecht Kuner;Katja Eggermann

  • Determination of SMN1 and SMN2 copy number using TaqMan technology.

    Dirk Anhuf;Thomas Eggermann;Sabine Rudnik-Schöneborn;Klaus Zerres

  • Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Thomas Eggermann;Thomas Eggermann;Guiomar Perez de Nanclares;Eamonn R. Maher;I. Karen Temple;I. Karen Temple

  • PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

    Carsten Bergmann;Jan Senderek;Fabian Küpper;Frank Schneider

  • Luminal heterodimeric amino acid transporter defective in cystinuria.

    Rahel Pfeiffer;Jan Loffing;Grégoire Rossier;Christian Bauch

  • The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

    Nadine Schönherr;Esther Meyer;Andreas Roos;Angela Schmidt

  • Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    Louise E. Docherty;Louise E. Docherty;Faisal I. Rezwan;Faisal I. Rezwan;Rebecca L. Poole;Rebecca L. Poole;Claire L. S. Turner

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude F;Kalish Jm;Mussa A;Foster Ac

Frequent Co-Authors

Klaus Zerres
Klaus Zerres RWTH Aachen University
Karin Buiting
Karin Buiting University of Duisburg-Essen
Tilo Kircher
Tilo Kircher Philipp University of Marburg
Axel Krug
Axel Krug Philipp University of Marburg
Deborah J.G. Mackay
Deborah J.G. Mackay University of Southampton
Sören Krach
Sören Krach University of Lübeck
Michael B. Ranke
Michael B. Ranke University of Tübingen
Tony Stöcker
Tony Stöcker German Center for Neurodegenerative Diseases
Marcella Rietschel
Marcella Rietschel Heidelberg University
Markus M. Nöthen
Markus M. Nöthen University Hospital Bonn

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