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Genetics

D-Index
69
Citations
14364
World Ranking
2370
National Ranking
173

Overview

Bernd Wollnik is affiliated with the University of Göttingen in Germany and has a research profile spanning biochemistry, genetics, molecular biology, and medicine. Their work is prominently situated within the fields of molecular biology, genetics, cardiology and cardiovascular medicine, cell biology, and pathology and forensic medicine.

Wollnik's research encompasses key topics such as DNA repair mechanisms, RNA modifications and cancer, RNA research and splicing, CRISPR and genetic engineering, cardiomyopathy and myosin studies, genetics and neurodevelopmental disorders, and RNA and protein synthesis mechanisms.

Among recent publications, notable papers include:

  • Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy, 2020, Circulation
  • Engineered heart muscle allografts for heart repair in primates and humans, 2025, Nature
  • Premature aging disorders: A clinical and genetic compendium, 2020, Clinical Genetics
  • The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models, 2021, Virus Research
  • A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome, 2020, European Journal of Human Genetics

Frequent coauthors working alongside Wollnik include Janine Altmüller, Gökhan Yiğit, Peter Nürnberg, Gökhan Yigit, and Silke Kaulfuß, indicating ongoing collaborations within their research network.

Publication venues that feature their work frequently are:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Clinical Genetics
  • Human Genetics
  • American Journal of Medical Genetics Part A
  • European Journal of Human Genetics

Best Publications

  • Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

    Charles Antzelevitch;Guido D. Pollevick;Jonathan M. Cordeiro;Oscar Casis

  • Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

    William A. Paznekas;Simeon A. Boyadjiev;Robert E. Shapiro;Otto Daniels

  • Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  • Mutations in WNT1 Cause Different Forms of Bone Fragility

    Katharina Keupp;Filippo Beleggia;Hülya Kayserili;Aileen M. Barnes

  • A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

    Oliver Semler;Lutz Garbes;Katharina Keupp;Daniel Swan

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

    Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  • CEP152 is a genome maintenance protein disrupted in Seckel syndrome

    Ersan Kalay;Gökhan Yigit;Yakup Aslan;Karen E Brown

  • Mutations in different components of FGF signaling in LADD syndrome

    E. Rohmann;H.G. Brunner;H. Kayserili;O. Uyguner

  • Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

    P.V. Asharani;Katharina Keupp;Oliver Semler;Wenshen Wang

  • Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

    Tobias Eisenberger;Christine Neuhaus;Arif O. Khan;Christian Decker

  • A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

    Dagmar Wieczorek;Nina Bögershausen;Filippo Beleggia;Sabine Steiner-Haldenstätt

  • Unmasking Kabuki syndrome

    N Bögershausen;B Wollnik

  • Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

    Kathrin Laue;Hans-Martin Pogoda;Philip B. Daniel;Arie van Haeringen

  • Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy

    Jeanette Erdmann;Jörg Raible;Jaleh Maki-Abadi;Jan Hammann

  • Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

    Robert Hering;Karsten M. Strauss;Xiao Tao;Andreas Bauer

  • LRP4 Mutations Alter Wnt/beta-catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    Yun Li;Barbara Pawlik;Nursel Elcioglu;Mona Aglan

  • Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

    Lutz Garbes;Kyungho Kim;Angelika Rieß;Heike Hoyer-Kuhn

  • Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Nina Bögershausen;Vincent Gatinois;Vincent Gatinois;Vera Riehmer;Hülya Kayserili

  • A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

    Dagmar Wieczorek;Barbara Pawlik;Yun Li;Nurten A. Akarsu

Frequent Co-Authors

Peter Nürnberg
Peter Nürnberg University of Cologne
Janine Altmüller
Janine Altmüller University of Cologne
Hülya Kayserili
Hülya Kayserili Koç University
Christian Kubisch
Christian Kubisch Universität Hamburg
Dagmar Wieczorek
Dagmar Wieczorek Heinrich Heine University Düsseldorf
Gudrun Nürnberg
Gudrun Nürnberg University of Cologne
Yun Li
Yun Li University of North Carolina at Chapel Hill
Holger Thiele
Holger Thiele Leipzig University
Tim M. Strom
Tim M. Strom Technical University of Munich
Uwe Kornak
Uwe Kornak University of Göttingen

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