1. Circadian genes and risk of prostate cancer: Findings from the EPICAP study. Issue 7 (12th February 2019) Authors: Wendeu‐Foyet, Méyomo G.; Koudou, Yves; Cénée, Sylvie; Trétarre, Brigitte; Rébillard, Xavier; Cancel‐Tassin, Géraldine; Cussenot, Olivier; Boland, Anne; Bacq, Delphine; Deleuze, Jean‐François; Lamy, Pierre‐Jean; Mulot, Claire; Laurent‐Puig, Pierre; Truong, Thérèse; Menegaux, Florence Journal: International journal of cancer Issue: Volume 145:Issue 7(2019) Page Start: 1745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. Issue 11 (7th August 2019) Authors: Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant‐Forest, Clémentine; Renaux‐Petel, Mariette; Leca, Jean‐Baptiste; Hazelzet, Tristan; Brasseur‐Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean‐Franço... Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement. Issue 2 (14th May 2018) Authors: Dabaj, Ivana; Carlier, Robert Y; Gómez‐Andrés, David; Neto, Osório Abath; Bertini, Enrico; D'amico, Adele; Fattori, Fabiana; PéRéon, Yann; Castiglioni, Claudia; Rodillo, Eliana; Catteruccia, Michela; Guimarães, júlio Brandão; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Mesrob, Lilia; Lech... Journal: Muscle & nerve Issue: Volume 58:Issue 2(2018) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Issue 4 (2nd February 2017) Authors: Böhm, Johann; Bulla, Monica; Urquhart, Jill E.; Malfatti, Edoardo; Williams, Simon G.; O'Sullivan, James; Szlauer, Anastazja; Koch, Catherine; Baranello, Giovanni; Mora, Marina; Ripolone, Michela; Violano, Raffaella; Moggio, Maurizio; Kingston, Helen; Dawson, Timothy; DeGoede, Christian G.; Nixon... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. Issue 12 (25th October 2018) Authors: Ávila-Polo, Rainiero; Malfatti, Edoardo; Lornage, Xavière; Cheraud, Chrystel; Nelson, Isabelle; Nectoux, Juliette; Böhm, Johann; Schneider, Raphaël; Hedberg-Oldfors, Carola; Eymard, Bruno; Monges, Soledad; Lubieniecki, Fabiana; Brochier, Guy; Thao Bui, Mai; Madelaine, Angeline; Labasse, Clémence;... Journal: Journal of neuropathology and experimental neurology Issue: Volume 77:Issue 12(2018) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing. Issue 1 (December 2018) Authors: Husson, Thomas; Duboc, Jean-Baptiste; Quenez, Olivier; Charbonnier, Camille; Rotharmel, Maud; Cuenca, Macarena; Jegouzo, Xavier; Richard, Anne-Claire; Frebourg, Thierry; Deleuze, Jean-François; Boland, Anne; Genin, Emmanuelle; Debette, Stéphanie; Tzourio, Christophe; Campion, Dominique; Nicolas, ... Journal: Translational psychiatry Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization. Issue 3 (27th January 2020) Authors: Uguen, Kévin; Jubin, Claire; Duffourd, Yannis; Bardel, Claire; Malan, Valérie; Dupont, Jean‐Michel; El Khattabi, Laila; Chatron, Nicolas; Vitobello, Antonio; Rollat‐Farnier, Pierre‐Antoine; Baulard, Céline; Lelorch, Marc; Leduc, Aurélie; Tisserant, Emilie; Tran Mau‐Them, Frédéric; Danjean, Vincen... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. (17th October 2016) Authors: Abath Neto, Osorio; Heise, Carlos Otto; Moreno, Cristiane de Araújo Martins; Estephan, Eduardo de Paula; Mesrob, Lilia; Lechner, Doris; Boland, Anne; Deleuze, Jean-François; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Biancalana, Valérie; Laporte, Jocelyn; Zanoteli, Edmar Journal: Canadian journal of neurological sciences Issue: Volume 44:Number 1(2017) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly. Issue 4 (28th June 2021) Authors: Uguen, Kévin; Krysiak, Kilannin; Audebert‐Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Viora‐Dupont, Eléonore; Tran Mau‐Them, Frederic; Rondeau, Sophie; Elsharkawi, Ibrahim; Granadillo, Jorge L.; Neidich, Julie; Soares, Celia Azevedo; Tkachenko, Natáliya; M. Amudhavalli, Shivarajan; Engl... Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017) Authors: Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗