Short CV/Education and training

  • Since 2015
    W2 Professorship for Dermatogenetics, Institute of Human Genetics, Bonn

  • 2010 – 2015
    Appointment to a W2 Heisenberg Professorship funded by the German Research Foundation (DFG) at the University of Bonn

  • 2004 – 2008
    Director of the Emmy Noether junior research group: Cloning and characterisation of genes for monogenic and genetically complex forms of isolated alopecia, Institute of Human Genetics, University of Bonn

  • 2002 – 2004
    Research Foundation – Flanders (FWO) Postdoctoral fellowship in the Department of Medical Genetics, University of Antwerp, Belgium

  • 2000 – 2002
    German Research Foundation (DFG) research fellow at the Institute of Human Genetics, University of Bonn, Germany

  • 1998 – 1999
    Junior doctor, University Children's Hospital of Freiburg, Germany

  • 1997 – 1998
    Research assistant, Department of Medical Genetics, Karolinska Institute, Stockholm, Sweden

Selected publications

  • Wang, Humbatova et al: Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet 107:34-45, 2020

  • Malki et al: Variant PADI3 in Central Centrifugal Cicatricial Alopecia. N Engl J Med 380:833-841, 2019

  • Ralser et al: Altered Notch signaling in Dowling-Degos disease: Additional mutations in POGLUT1 and further insights into disease pathogenesis. J Invest Dermatol 139:960-964, 2019

  • Romano et al: Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet 103:777-785, 2018

  • Ralser et al: PSENEN mutations underlie Dowling-Degos disease associated with acne inversa: J Clin Invest 127:1485-1490, 2017

  • Basmanav et al: Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Am J Hum Genet 99:1292-1304, 2016

  • Betz et al: Meta-analysis of genome-wide association studies in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun 6:5966, 2015

  • Basmanav et al: Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal dominant Dowling-Degos disease. Am J Hum Genet 94:135-143, 2014

  • Pasternack et al: Mutations in SNRPE, encoding a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet 92:81-87, 2013

  • Pasternack et al: G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nature Genet 40:329-334, 2008

  • Levy-Nissenbaum, E. et al.: Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. In: Nature Genet 34, 2003. pp. 151-153.

  • Pasternack, S.M. et al.: G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. In: Nature Genet 40, 2008. pp. 329-334.

Complete list of publications

Selected projects

  • The genetics of monogenic and genetically complex hair-development disorders

  • Pathogenesis of genodermatosis (hyperpigmentation disorders, actinic prurigo)

Additional qualifications

  • Specialist in human genetics

Soft Skills/Other activities and achievements

Other activities and achievements/family

  • Cross country skiing


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