Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

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Science Advances  04 Dec 2019:
Vol. 5, no. 12, eaaw7908
DOI: 10.1126/sciadv.aaw7908

Article Information

vol. 5 no. 12

Online ISSN: 
  • Received for publication January 24, 2019
  • Accepted for publication September 26, 2019
  • .

Author Information

  1. Matteo Zanella1,2,*,,
  2. Alessandro Vitriolo1,2,*,
  3. Alejandro Andirko3,4,
  4. Pedro Tiago Martins3,4,
  5. Stefanie Sturm3,4,
  6. Thomas O’Rourke3,4,
  7. Magdalena Laugsch5,6,7,
  8. Natascia Malerba8,
  9. Adrianos Skaros1,2,
  10. Sebastiano Trattaro1,2,
  11. Pierre-Luc Germain1,2,9,
  12. Marija Mihailovic1,2,
  13. Giuseppe Merla8,
  14. Alvaro Rada-Iglesias5,10,11,
  15. Cedric Boeckx3,4,12 and
  16. Giuseppe Testa1,2,13,
  1. 1Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
  2. 2Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
  3. 3University of Barcelona, Barcelona, Spain.
  4. 4University of Barcelona Institute of Complex Systems (UBICS), Barcelona, Spain.
  5. 5Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  6. 6Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
  7. 7Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
  8. 8Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  9. 9D-HEST Institute for Neuroscience, ETH Zürich, Switzerland.
  10. 10Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Germany.
  11. 11Institute of Biomedicine and Biotechnology of Cantabria, University of Cantabria, Cantabria, Spain.
  12. 12Catalan Institute for Advanced Studies and Research (ICREA), Barcelona, Spain.
  13. 13Human Technopole, Center for Neurogenomics, Via Cristina Belgioioso 171, Milan, Italy.
  1. Corresponding author. Email: giuseppe.testa{at}, giuseppe.testa{at}, giuseppe.testa{at}
  • * These authors contributed equally to this work.

  • Present address: Evotec SE, Hamburg, Germany.


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