1. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). Issue 5 (28th November 2018) Authors: Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N; Çağlayan, Ahmet Okay; Najafi, Maryam; Stanley, Valentina; Boustany, Rose-Mary; Yeşil, Gözde; Sahebzamani, Afsaneh; Ercan-Sencicek, Gülhan; Saeidi, Kolsoum; Wu, Kaman; Bauer, Peter; Bakey, Zeineb; Gleeson, Joseph G; ... Journal: Journal of medical genetics Issue: Volume 56:Issue 5(2019) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. Issue 12 (10th December 2018) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Assoum, Mirna; Duffourd, Yannis; Masurel, Alice; Baujat, Geneviève; Bessieres, Bettina; Captier, Guillaume; Edery, Patrick; Elçioğlu, Nursel H.; Geneviève, David; Goldenberg, Alice; Héron, Delphine; Grotto, Sarah; Marlin, Sandrine; Putoux, Audre... Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗