1. Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Issue 10 (18th June 2019) Authors: Khan, Mubeen; Cornelis, Stéphanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; van de Vorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stöhr, Heidi; Grassmann, Felix... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis. Issue 6 (25th March 2014) Authors: Masurel‐Paulet, Alice; Drumare, Isabelle; Holder, Muriel; Cuisset, Jean‐Marie; Vallée, Louis; Defoort, Sabine; Bourgois, Béatrice; Pernes, Philippe; Cuvellier, Jean‐Christophe; Huet, Frédéric; Chehadeh, Salima El; Thevenon, Julien; Callier, Patrick; Thauvin, Christel; Faivre, Laurence; Andrieux, ... Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Issue 3 (20th July 2021) Authors: Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluo... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗