| 2021 | SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling | Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Grüning, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Pode-Shakked, Ben; Albayrak, Hatice Mutlu; Işık, Emregül; Wit Jan, M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A.L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal, M.J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S.L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing ; Tartaglia, Marco | The American Journal of Human Genetics 108(1), 115-133 | | | |
