1. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Issue 2 (14th November 2020) Authors: Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne‐Sophie; Nourisson, Elsa; Leitch, Carmen C.; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean‐François; Génin, Emmanuelle;... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype. Issue 6 (6th June 2021) Authors: Al Sayed, Zeina R.; Jouni, Mariam; Gourraud, Jean‐Baptiste; Belbachir, Nadjet; Barc, Julien; Girardeau, Aurore; Forest, Virginie; Derevier, Aude; Gaignerie, Anne; Chariau, Caroline; Cimarosti, Bastien; Canac, Robin; Olchesqui, Pierre; Charpentier, Eric; Schott, Jean‐Jacques; Redon, Richard; Baró,... Journal: Clinical and translational medicine Issue: Volume 11:Issue 6(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype. Issue 2 (7th February 2018) Authors: Vuillaume, Marie‐Laure; Jeanne, Médéric; Xue, Li; Blesson, Sophie; Denommé‐Pichon, Anne‐Sophie; Alirol, Servane; Brulard, Céline; Colin, Estelle; Isidor, Bertrand; Gilbert‐Dussardier, Brigitte; Odent, Sylvie; Parent, Philippe; Donnart, Audrey; Redon, Richard; Bézieau, Stéphane; Rondard, Philippe;... Journal: Annals of neurology Issue: Volume 83:Issue 2(2018) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A taxonomy of tools and approaches for distributed genomic analyses. (2022) Authors: Garzón, Wilmer; Benavides, Luis; Gaignard, Alban; Redon, Richard; Südholt, Mario Journal: Informatics in medicine unlocked Issue: Volume 32(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ABCA7 rare variants and Alzheimer disease risk. (7th June 2016) Authors: Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management. Issue 9 (23rd July 2022) Authors: Goudal, Adeline; Karakachoff, Matilde; Lindenbaum, Pierre; Baron, Estelle; Bonnaud, Stéphanie; Kyndt, Florence; Arnaud, Marine; Minois, Damien; Bourcereau, Emmanuelle; Thollet, Aurélie; Deleuze, Jean‐François; Genin, Emmanuelle; Wiart, François; Pasquié, Jean‐Luc; Galand, Vincent; Sacher, Frédéri... Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience. (September 2017) Authors: Quenin, Pauline; Kyndt, Florence; Mabo, Philippe; Mansourati, Jacques; Babuty, Dominique; Thollet, Aurélie; Guyomarch, Béatrice; Redon, Richard; Barc, Julien; Schott, Jean-Jacques; Sacher, Frederic; Probst, Vincent; Gourraud, Jean Baptiste Journal: Circulation Issue: Volume 10:Number 9(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Confirmed rare copy number variants implicate novel genes in schizophrenia. (22nd March 2010) Authors: Tam, Gloria W.C.; van de Lagemaat, Louie N.; Redon, Richard; Strathdee, Karen E.; Croning, Mike D.R.; Malloy, Mary P.; Muir, Walter J.; Pickard, Ben S.; Deary, Ian J.; Blackwood, Douglas H.R.; Carter, Nigel P.; Grant, Seth G.N. Journal: Biochemical Society transactions Issue: Volume 38:Number 2(2010) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016) Authors: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ... Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. DNA copy number variations in drug reaction with eosinophilia and systemic symptoms (DRESS) identifying 2 new candidates genes. (18th July 2014) Authors: Bursztejn, Anne‐Claire; Nemos, Christophe; Redon, Richard; Trechot, Philippe; Gastin, Isabelle; Barbaud, Annick Journal: Clinical and translational allergy Issue: Volume 4:(2014)supplement 3 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗