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Elisabeth Mangold

Elisabeth Mangold

D-Index & Metrics

Genetics

D-Index
62
Citations
12592
World Ranking
2987
National Ranking
207

Overview

Elisabeth Mangold is affiliated with the University of Bonn in Germany. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a significant focus on Genetics and Molecular Biology subfields. The scientist's work extends into Medicine, addressing specialized areas such as Surgery, Pulmonary and Respiratory Medicine, and Cancer Research.

The scientist's research covers a variety of topics, including:

  • Cleft Lip and Palate Research
  • Craniofacial Disorders and Treatments
  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • RNA modifications and cancer
  • Tracheal and airway disorders
  • Congenital heart defects research

Frequent co-authors in their publications include:

  • Kerstin U. Ludwig
  • Sophia Peters
  • Hartmut Engels
  • Kirsten Cremer
  • Claudia Perne

The scientist has contributed to several recurring publication venues, such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Nature Genetics
  • Human Genetics and Genomics Advances
  • Zenodo (CERN European Organization for Nuclear Research)

Some of their recent papers include:

  • "GestaltMatcher facilitates rare disease matching using facial phenotype descriptors," 2022, Nature Genetics
  • "Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study," 2020, International Journal of Epidemiology
  • "Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings," 2024, Nature Genetics
  • "Nine newly identified individuals refine the phenotype associated with MYT1L mutations," 2020, American Journal of Medical Genetics Part A
  • "Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during lip development," 2020, Development

Best Publications

  • Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    Lavinia Paternoster;Marie Standl;Johannes Waage;Hansjoerg Baurecht

  • Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

    Stefanie Birnbaum;Stefanie Birnbaum;Kerstin U Ludwig;Heiko Reutter;Stefan Herms

  • Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

    Elisabeth Mangold;Kerstin U. Ludwig;Stefanie Birnbaum;Carlotta Baluardo

  • Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

    W Friedl;R Caspari;M Sengteller;S Uhlhaas

  • Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

    Kerstin U. Ludwig;Elisabeth Mangold;Stefan Herms;Stefanie Nowak;Stefanie Nowak

  • High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome

    Stefan Aretz;Dietlinde Stienen;Siegfried Uhlhaas;Steffan Loff

  • Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic MSH6 Germline Mutations Compared With Families With MLH1 or MSH2 Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium

    Jens Plaschke;Christoph Engel;Stefan Krüger;Elke Holinski-Feder

  • MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

    Stefan Aretz;Siegfried Uhlhaas;Heike Goergens;Kirsten Siberg

  • Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

    Yanqin Yu;Xianbo Zuo;Miao He;Jinping Gao

  • HNPCC-associated small bowel cancer: Clinical and molecular characteristics

    Karsten Schulmann;Frank E. Brasch;Erdmute Kunstmann;Christoph Engel

  • Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

    Tiina E. Raevaara;Mari K. Korhonen;Hannes Lohi;Heather Hampel

  • Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

    T. H. Beaty;M. A. Taub;A. F. Scott;J. C. Murray

  • Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test.

    Micaela Mathiak;Arno Rütten;Elisabeth Mangold;Hans-Peter Fischer

  • Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

    Claudia Günther;Barbara Kind;Martin A.M. Reijns;Nicole Berndt

  • Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

    Johannes Birtel;Tobias Eisenberger;Martin Gliem;Philipp L. Müller

  • Genotype-Phenotype Comparison of German MLH1 and MSH2 Mutation Carriers Clinically Affected With Lynch Syndrome: A Report by the German HNPCC Consortium

    Timm Goecke;Karsten Schulmann;Christoph Engel;Elke Holinski-Feder

  • Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

    Waltraut Friedl;Siegfried Uhlhaas;Karsten Schulmann;Manfred Stolte

  • A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir- Torre syndrome

    E Mangold;C Pagenstecher;M Leister;M Mathiak

  • Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

    Stefan Aretz;Siegfried Uhlhaas;Reiner Caspari;Elisabeth Mangold

  • Breakthroughs in the genetics of orofacial clefting.

    Elisabeth Mangold;Kerstin U. Ludwig;Markus M. Nöthen

Frequent Co-Authors

Markus M. Nöthen
Markus M. Nöthen University Hospital Bonn
Michael Knapp
Michael Knapp University of Bonn
Peter Propping
Peter Propping University of Bonn
Per Hoffmann
Per Hoffmann University of Bonn
Christoph Lange
Christoph Lange University of Lübeck
Stefan Herms
Stefan Herms University of Basel
Frank G. Holz
Frank G. Holz University of Bonn
Manuel Mattheisen
Manuel Mattheisen Dalhousie University
Régine P.M. Steegers-Theunissen
Régine P.M. Steegers-Theunissen Erasmus University Rotterdam
Mary L. Marazita
Mary L. Marazita University of Pittsburgh

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