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Stefan Mundlos

Stefan Mundlos

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Genetics
Germany
2024
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Genetics and Molecular Biology
Germany
2024

D-Index & Metrics

Genetics

D-Index
118
Citations
54184
World Ranking
410
National Ranking
27

Medicine

D-Index
118
Citations
54829
World Ranking
4042
National Ranking
224

Research.com Recognitions

  • 2024 - Research.com Genetics in Germany Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Germany Leader Award
  • 2023 - Research.com Genetics in Germany Leader Award
  • 2004 - German National Academy of Sciences Leopoldina - Deutsche Akademie der Naturforscher Leopoldina – Nationale Akademie der Wissenschaften Human Genetics and Molecular Medicine
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)
  • Member of the European Molecular Biology Organization (EMBO)

Overview

Stefan Mundlos is affiliated with the Max Planck Society in Germany and has an extensive research portfolio primarily within the fields of Biochemistry, Genetics, and Molecular Biology. Over their career, they have contributed significantly to subfields including Molecular Biology, Genetics, Cancer Research, Plant Science, and Immunology.

Their published research frequently appears in a number of notable scientific venues. These include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • The American Journal of Human Genetics
  • Nature
  • Nature Genetics

Stefan Mundlos' main research topics revolve around various aspects of genomics and molecular mechanisms, such as:

  • Genomics and Chromatin Dynamics
  • Genomic variations and chromosomal abnormalities
  • RNA Research and Splicing
  • Genomics and Rare Diseases
  • Chromosomal and Genetic Variations
  • Connective tissue disorders research
  • RNA modifications and cancer

Some of their recent and highly cited papers include:

  • Nosology of genetic skeletal disorders: 2023 revision, 2023, American Journal of Medical Genetics Part A
  • ecDNA hubs drive cooperative intermolecular oncogene expression, 2021, Nature
  • Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma, 2020, Nature Communications
  • Unblending of Transcriptional Condensates in Human Repeat Expansion Disease, 2020, Cell
  • GestaltMatcher facilitates rare disease matching using facial phenotype descriptors, 2022, Nature Genetics

The scientist has collaborated frequently with several co-authors, including:

  • Robert Schöpflin
  • Malte Spielmann
  • Uwe Kornak
  • Uirá Souto Melo
  • Martin A. Mensah

Stefan Mundlos has received recognition through awards such as membership in the German National Academy of Sciences Leopoldina for Human Genetics and Molecular Medicine, awarded in 2004, and membership in the European Molecular Biology Organization (EMBO).

Best Publications

  • Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development

    Florian Otto;Anders P Thornell;Tessa Crompton;Angela Denzel

  • The single-cell transcriptional landscape of mammalian organogenesis

    Junyue Cao;Malte Spielmann;Xiaojie Qiu;Xingfan Huang

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz

  • Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

    S Mundlos;S Mundlos;F Otto;C Mundlos;C Mundlos;J.B Mulliken

  • The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

    Peter N. Robinson;Sebastian Köhler;Sebastian Bauer;Dominik Seelow

  • The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway

    Isao Oishi;Hiroaki Suzuki;Nobuyuki Onishi;Ritsuko Takada

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

    Yasuteru Muragaki;Stefan Mundlos;Joseph Upton;Bjorn R. Olsen

  • A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

    Graciana Diez-Roux;Sandro Banfi;Marc Sultan;Lars Geffers

  • Formation of new chromatin domains determines pathogenicity of genomic duplications

    Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Structural variation in the 3D genome.

    Malte Spielmann;Darío G. Lupiáñez;Stefan Mundlos

  • Regulation of chondrocyte differentiation by Cbfa1.

    I.S Kim;F Otto;B Zabel;S Mundlos

  • Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

    Sebastian Köhler;Marcel H. Schulz;Marcel H. Schulz;Peter Krawitz;Sebastian Bauer

  • Cleidocranial dysplasia: clinical and molecular genetics

    Stefan Mundlos

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  • Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

    Frederick S. Kaplan;Meiqi Xu;Petra Seemann;J. Michael Connor

  • Breaking TADs: How Alterations of Chromatin Domains Result in Disease.

    Darío G. Lupiáñez;Darío G. Lupiáñez;Malte Spielmann;Malte Spielmann;Stefan Mundlos;Stefan Mundlos

  • Glucose/galactose malabsorption caused by a defect in the Na + /glucose cotransporter

    E. Turk;B. Zabel;S. Mundlos;J. Dyer

  • Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

    Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

Frequent Co-Authors

Uwe Kornak
Uwe Kornak University of Göttingen
Peter N. Robinson
Peter N. Robinson The Jackson Laboratory
Sigmar Stricker
Sigmar Stricker Freie Universität Berlin
Eva Klopocki
Eva Klopocki University of Würzburg
Bernhard Zabel
Bernhard Zabel University of Freiburg
Georg N. Duda
Georg N. Duda Charité - University Medicine Berlin
Francesco Brancati
Francesco Brancati University of L'Aquila
Peter Nürnberg
Peter Nürnberg University of Cologne
Martin Vingron
Martin Vingron Max Planck Society
Bernd Timmermann
Bernd Timmermann Max Planck Society

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