Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots, Herma C. van der Linde, Banin Mohseni, Leontine van Unen, Mark Drost, Mark D. Nellist, Marieke Koekkoek, Rachel Schot, Henriëtte H. W. de Gier, Mieke M. Pleumeekers, Tahsin Stefan Barakat, Tjitske Kleefstra, Marjolein J.A. Weerts, , Tjakko J. van Ham
medRxiv · Apr 24, 2025 · PreprintGenetic & Genomic Medicine