1. Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function. Issue 8 (4th June 2018) Authors: Ruaud, Lyse; Rice, Gillian I.; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher‐Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François‐Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Liv... Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. Issue 5 (11th May 2020) Authors: De Luca, Chiara; Crow, Yanick J.; Rodero, Mathieu; Rice, Gillian I.; Ahmed, Melek; Lammens, Martin; De Cock, Paul; Van Esch, Hilde; Lagae, Lieven; Rochtus, Anne Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗