1. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. (April 2018) Authors: Marelli, Cecilia; Hamel, Christian; Quiles, Melanie; Carlander, Bertrand; Larrieu, Lise; Delettre, Cecile; Sarzi, Emmanuelle; Chretien, Dominique; Rustin, Pierre; Koenig, Michel; Guissart, Claire Journal: Neurology Issue: Volume 4:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adaptive optics: a tool for screening hydroxychloroquine‐induced maculopathy?. Issue 5 (2nd November 2016) Authors: Babeau, Fanny; Busetto, Timothé; Hamel, Christian; Villain, Max; Daien, Vincent Journal: Acta ophthalmologica Issue: Volume 95:Issue 5(2017) Page Start: e424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. (16th May 2018) Authors: Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier Journal: Human molecular genetics Issue: Volume 27:Number 15(2018:Aug. 01) Page Start: 2689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical Outcome After Rectal Replacement With Side-to-End, Colon-J-Pouch, or Straight Colorectal Anastomosis Following Total Mesorectal Excision: A Swiss Prospective, Randomized, Multicenter Trial (SAKK 40/04). Issue 5 (May 2019) Authors: Marti, Walter R.; Curti, Gaudenz; Wehrli, Heinz; Grieder, Felix; Graf, Michael; Gloor, Beat; Zuber, Markus; Demartines, Nicolas; Fasolini, Fabrizio; Lerf, Bruno; Kettelhack, Christoph; Andrieu, Christiane; Bigler, Martin; Hayoz, Stefanie; Ribi, Karin; Hamel, Christian Journal: Annals of surgery Issue: Volume 269:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS. (20th October 2017) Authors: Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Verloes, Alain; Perdomo‐Trujillo, Yaumara; Hamel, Christian; Elcioglu, Nursel H.; Leroy, Bart; Kaplan, Josseline; Jouk, Pierre‐Simon; Lacombe, Didier; Fergelot, Patricia; Morice‐Picard, Fanny; Arveiler, Benoit Journal: Pigment cell & melanoma research Issue: Volume 30:Number 6(2017) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016) Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Issue 2 (5th December 2013) Authors: Gueneau, Lucie; Duplomb, Laurence; Sarda, Pierre; Hamel, Christian; Aral, Bernard; Chehadeh, Salima El; Gigot, Nadège; St‐Onge, Judith; Callier, Patrick; Thevenon, Julien; Huet, Frédéric; Carmignac, Virginie; Droin, Nathalie; Faivre, Laurence; Thauvin‐Robinet, Christel Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots. Issue 10 (15th July 2014) Authors: Baux, David; Blanchet, Catherine; Hamel, Christian; Meunier, Isabelle; Larrieu, Lise; Faugère, Valérie; Vaché, Christel; Castorina, Pierangela; Puech, Bernard; Bonneau, Dominique; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal Pain. (1st February 2019) Authors: Breidthardt, Tobias; Brunner-Schaub, Nora; Balmelli, Catharina; Insenser, Juan Jose Sancho; Burri-Winkler, Katrin; Geigy, Nicolas; Mundorff, Lukas; Exadaktylos, Aristomenis; Scholz, Julia; Haaf, Philip; Hamel, Christian; Frey, Daniel; Delport, Karen; Peacock, W Frank; Freese, Michael; DiSomma, Sa... Journal: Clinical chemistry Issue: Volume 65:Number 2(2019) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Issue 9 (24th November 2018) Authors: Monfermé, Solene; Lasseaux, Eulalie; Duncombe-Poulet, Catherine; Hamel, Christian; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Zanlonghi, Xavier; Dollfus, Hélène; Perdomo, Yaurama; Bonneau, Dominique; Korobelnik, Jean-François; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Rooryck-Th... Journal: British journal of ophthalmology Issue: Volume 103:Issue 9(2019) Page Start: 1239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗