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D-Index & Metrics

Biology and Biochemistry

D-Index
54
Citations
10724
World Ranking
15624
National Ranking
1099

Overview

Uwe Kornak is affiliated with the University of Göttingen in Germany and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, with particular focus on genetics and molecular biology subfields. Their research also intersects with medicine, especially in areas such as rheumatology, oncology, and cell biology.

The main topics addressed in Kornak's work include:

  • Connective tissue disorders research
  • Bone metabolism and diseases
  • Genomics and rare diseases
  • Bone health and treatments
  • Genetics and neurodevelopmental disorders
  • Dermatological and skeletal disorders
  • Bone and dental protein studies

Kornak has published in a variety of scientific journals, frequently contributing to Bone Reports, the Journal of Bone and Mineral Research, Osteologie/Osteology, Bone, and bioRxiv (Cold Spring Harbor Laboratory). These venues reflect a focus on bone biology and related medical sciences.

Among recent papers published are:

  • "VarFish: comprehensive DNA variant analysis for diagnostics and research," 2020, Nucleic Acids Research
  • "CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients," 2020, Molecular Therapy
  • "Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)," 2020, Journal of Bone and Mineral Research
  • "Premature aging disorders: A clinical and genetic compendium," 2020, Clinical Genetics
  • "Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis," 2020, Journal of Bone and Mineral Research

Frequent coauthors collaborating with Kornak include Stefan Mundlos, Björn Fischer-Zirnsak, Ralf Oheim, Manuel Holtgrewe, and Tim Rolvien. These collaborations suggest active engagement in multidisciplinary research efforts within their fields of study.

Best Publications

  • Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

    Uwe Kornak;Dagmar Kasper;Michael R Bösl;Edelgard Kaiser

  • Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

    Uwe Kornak;Ansgar Schulz;Wilhelm Friedrich;Siegfried Uhlhaas

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

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

  • Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

    Dagmar Kasper;Rosa Planells-Cases;Jens C Fuhrmann;Olaf Scheel

  • Mutations in WNT1 Cause Different Forms of Bone Fragility

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

  • Mutations in PYCR1 cause cutis laxa with progeroid features

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

  • Cannabinoid receptor type 2 gene is associated with human osteoporosis

    Meliha Karsak;Martine Cohen-Solal;Jan Freudenberg;Agnes Ostertag

  • Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    Tomasz Zemojtel;Sebastian Köhler;Luisa Mackenroth;Marten Jäger

  • Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.

    Stefanie Weinert;Sabrina Jabs;Sabrina Jabs;Chayarop Supanchart;Michaela Schweizer

  • Congenital disorders of glycosylation (CDG): Quo vadis?

    Romain Péanne;Pascale de Lonlay;François Foulquier;Uwe Kornak

  • Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

    Mallorie Poët;Uwe Kornak;Michaela Schweizer;Anselm A. Zdebik

  • Impaired gastric acidification negatively affects calcium homeostasis and bone mass

    Thorsten Schinke;Arndt F. Schilling;Anke Baranowsky;Sebastian Seitz

  • Genetic disorders of the skeleton: a developmental approach

    Uwe Kornak;Stefan Mundlos

  • A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

    Andrea N. Albrecht;Uwe Kornak;Annett Böddrich;Kathrin Süring

  • Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

    Hans Christian Hennies;Uwe Kornak;Uwe Kornak;Haikuo Zhang;Haikuo Zhang;Johannes Egerer

  • Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

    Vishwanathan Hucthagowder;Eva Morava;Uwe Kornak;Dirk J. Lefeber

  • Multiple roles for neurofibromin in skeletal development and growth

    Mateusz Kolanczyk;Nadine Kossler;Jirko Kühnisch;Liron Lavitas

  • A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

    K J Borthwick;N Kandemir;R Topaloglu;U Kornak

  • Inactivation of anoctamin-6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

    Harald W. A. Ehlen;Milana Chinenkova;Markus Moser;Hans-Markus Munter

  • Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

    Francesco Brancati;Francesco Brancati;Paola Fortugno;Irene Bottillo;Marc Lopez

Frequent Co-Authors

Stefan Mundlos
Stefan Mundlos Max Planck Society
Michael Amling
Michael Amling Universität Hamburg
Eva Morava
Eva Morava Mayo Clinic
Peter N. Robinson
Peter N. Robinson The Jackson Laboratory
Paul Coucke
Paul Coucke Ghent University
lionel van maldergem
lionel van maldergem Aix-Marseille University
Francesco Brancati
Francesco Brancati University of L'Aquila
Thomas J. Jentsch
Thomas J. Jentsch Charité - University Medicine Berlin
Ron A. Wevers
Ron A. Wevers Radboud University
Peter Nürnberg
Peter Nürnberg University of Cologne

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