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Genetics
Germany
2024
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Genetics and Molecular Biology
Germany
2024

D-Index & Metrics

Genetics

D-Index
92
Citations
29864
World Ranking
1005
National Ranking
83

Medicine

D-Index
92
Citations
30989
World Ranking
11311
National Ranking
611

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

Overview

Bernhard Horsthemke is affiliated with the University of Duisburg-Essen in Germany and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with a particular focus on medical research. Their work spans molecular biology, genetics, cancer research, pediatrics, perinatology, child health, and reproductive medicine.

Their research interests include epigenetics and DNA methylation, genetic syndromes and imprinting, genetics and neurodevelopmental disorders, prenatal screening and diagnostics, cancer-related molecular mechanisms, genomics and rare diseases, as well as genomic variations and chromosomal abnormalities.

Key recent publications by Bernhard Horsthemke include:

  • A germ cell-specific ageing pattern in otherwise healthy men (2020, Aging Cell)
  • The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis (2020, Clinical Epigenetics)
  • Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X (2022, Nature Communications)
  • The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature (2021, Genes)
  • Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis (2021, Nature Communications)

The scientist has published frequently in the following venues:

  • Clinical Epigenetics
  • Medizinische Genetik
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Scientific Reports
  • Nature Communications

Bernhard Horsthemke collaborates regularly with a range of coauthors, including:

  • Christopher Schröder
  • Elsa Leitão
  • Sandra Laurentino
  • Frank J. Kaiser
  • Johannes Hebebrand

In recognition of their contributions to human genetics and molecular medicine, Bernhard Horsthemke was awarded by the German National Academy of Sciences Leopoldina in 2004.

Best Publications

  • Association of a human G-protein β3 subunit variant with hypertension

    W Siffert;D Rosskopf;G Siffert;S Busch

  • Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

    Gerald F. Cox;Gerald F. Cox;Joachim Bürger;Va Lip;Ulrike A. Mau

  • Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.

    Jérôme Cavaillé;Karin Buiting;Martin Kiefmann;Marc Lalande

  • Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

    Valerie Greger;Eberhard Passarge;Wolfgang Höpping;Elmar Messmer

  • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

    Karin Buiting;Shinji Saitoh;Shinji Saitoh;Stephanie Gross;Bärbel Dittrich

  • Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

    Marcel Martin;Marcel Martin;Lars Maßhöfer;Petra Temming;Sven Rahmann

  • The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

    Hendrik G. Stunnenberg;Martin Hirst

  • Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

    Jung Ahn;Hermann-Josef Lüdecke;Steffi Lindow;William A. Horton

  • Imprinting in Prader–Willi and Angelman syndromes

    Robert D Nicholls;Shinji Saitoh;Bernhard Horsthemke

  • The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

    Maren Runte;Alexander Hüttenhofer;Stephanie Groß;Martin Kiefmann

  • 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

  • Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification

    Hermann-Josef Lüdecke;Gabriele Senger;Uwe Claussen;Bernhard Horsthemke

  • A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

    Eugene M. Rinchik;Scott J. Bultman;Bernhard Horsthemke;Seung Taek Lee

  • Worldwide Ethnic Distribution of the G Protein β3 Subunit 825T Allele and Its Association with Obesity in Caucasian, Chinese, and Black African Individuals

    Winfried Siffert;Peter Forster;Karl-Heinz Jöckel;David A. Mvere

  • Tumor Classification Based on Gene Expression Profiling Shows That Uveal Melanomas with and without Monosomy 3 Represent Two Distinct Entities

    Frank Tschentscher;Johannes Hüsing;Tanja Hölter;Elisabeth Kruse

  • Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples

    M Ludwig;A Katalinic;S Gross;A Sutcliffe

  • Mechanisms of imprinting of the Prader–Willi/Angelman region†

    Bernhard Horsthemke;Joseph Wagstaff

  • Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

    Karin Buiting;Stephanie Groß;Christina Lich;Gabriele Gillessen-Kaesbach

  • Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

    P. Momeni;G. Glöckner;O. Schmidt;D. Von Holtum

  • Angelman syndrome - insights into a rare neurogenetic disorder.

    Karin Buiting;Charles Williams;Bernhard Horsthemke

Frequent Co-Authors

Karin Buiting
Karin Buiting University of Duisburg-Essen
Gabriele Gillessen-Kaesbach
Gabriele Gillessen-Kaesbach University of Lübeck
Uwe Claussen
Uwe Claussen Friedrich Schiller University Jena
Dagmar Wieczorek
Dagmar Wieczorek Heinrich Heine University Düsseldorf
Robert D. Nicholls
Robert D. Nicholls University of Pittsburgh
Ludger Klein-Hitpass
Ludger Klein-Hitpass University of Duisburg-Essen
Thomas Eggermann
Thomas Eggermann RWTH Aachen University
Reiner Siebert
Reiner Siebert University of Ulm
Wendy P. Robinson
Wendy P. Robinson University of British Columbia
Thomas Cremer
Thomas Cremer Ludwig-Maximilians-Universität München

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