1. AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides. Issue 6 (11th March 2020) Authors: Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022) Authors: Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap... Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗