PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Genetics in medicine : official journal of the American College of Medical Genetics
Authors:
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, Dejan Dukic, Elena Gardella, Agnieszka Charzewska, Emma Clement, Helle Hjalgrim, Dorota Hoffman-Zacharska, Denise Horn, Rachel Horton, Jane A Hurst, Dragana Josifova, Line H G Larsen, Karine Lascelles, Ewa Obersztyn, Alistair Pagnamenta, Deb K Pal, Manuela Pendziwiat, Mina Ryten, Jenny Taylor, Julie Vogt, Yvonne Weber, Peter M Krawitz, Ingo Helbig, Usha Kini, Rikke S Møller
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
American journal of human genetics
Authors:
Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter M Krawitz, Davor Lessel, Christian Netzer
Identifying facial phenotypes of genetic disorders using deep learning.
Nature medicine
Authors:
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker, Lynne M Bird, Karen W Gripp