Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorsky, Francesca Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha Schrier Vergano, Katherine G. Langley, Douglas Larsen, Kelly D. Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza-Londono, Lucie Dupuis, Deborah A. Nickerson, Jessica X. Chong, The University of Washington Center for Mendelian Genomics, Naomi Meeks, Kathleen Brown, Tahnee Causey, Megan T. Cho, Stephanie Demuth, Maria Cristina Digilio, Bruce D. Gelb, Michael J. Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C. Hennekam, Marco Tartaglia, Ghayda M. Mirzaa
Am J Hum Genet. 2018 Feb 1; 102(2): 309–320. Published online 2018 Jan 25. doi: 10.1016/j.ajhg.2017.12.015