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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Alexander Hoischen, Bregje W.M. Van Bon, Benjamín Rodríguez-Santiago, Christian Gilissen, Lisenka E.L.M. Vissers, Petra De Vries, Irene Janssen, Bart Van Lier, Rob Hastings, Sarah F. Smithson, Ruth Newbury-Ecob, Susanne Kjaergaard, Judith Goodship, Ruth McGowan, Deborah Bartholdi, Anita Rauch, Maarit Peippo, Jan M. Cobben, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach
*Corresponding author for this work
- Radboud University Nijmegen
- Departament de Ciències Experimentals i de la Salut
- Unversitat Pompeu Fabra
- Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras, CIBERER
- Department of Clinical Genetics
- St. Michael's Hospital
- Copenhagen University Hospital Rigshospitalet
- Institute of Human Genetics
- Newcastle University
- Department of Medical Genetics
- Yorkhill Hospitals
- Zurich Center for Integrative Human Physiology (ZIHP)
- University of Helsinki
- Family Federation of Finland
- Department of Pediatric Genetics
- Emma Kinderziekenhuis
- Institut fur Humangenetik
- University of Duisburg-Essen
- Department of Clinical Genetics
126
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(Scopus)