1. 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) ↗
2. Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress. Issue 1 (December 2018) Authors: Bayard, Quentin; Meunier, Léa; Peneau, Camille; Renault, Victor; Shinde, Jayendra; Nault, Jean-Charles; Mami, Iadh; Couchy, Gabrielle; Amaddeo, Giuliana; Tubacher, Emmanuel; Bacq, Delphine; Meyer, Vincent; Bella, Tiziana; Debaillon-Vesque, Audrey; Bioulac-Sage, Paulette; Seror, Olivier; Blanc, Je... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Ecological Momentary Assessment: A Field Evaluation of Subjective Ratings of Speech in Noise. Issue 6 (18th November 2021) Authors: Jenstad, Lorienne M.; Singh, Gurjit; Boretzki, Michael; DeLongis, Anita; Fichtl, Elmar; Ho, Rachel; Huen, Myron; Meyer, Vincent; Pang, Flora; Stephenson, Ellen Journal: Ear and hearing Issue: Volume 42:Issue 6(2021) Page Start: 1770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ecological Momentary Assessment: A Field Evaluation of Subjective Ratings of Speech in Noise. Issue 6 (November 2021) Authors: Jenstad, Lorienne M.; Singh, Gurjit; Boretzki, Michael; DeLongis, Anita; Fichtl, Elmar; Ho, Rachel; Huen, Myron; Meyer, Vincent; Pang, Flora; Stephenson, Ellen Journal: Ear and hearing Issue: Volume 42:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Issue 8 (13th November 2018) Authors: Girard, Elodie; Eon‐Marchais, Séverine; Olaso, Robert; Renault, Anne‐Laure; Damiola, Francesca; Dondon, Marie‐Gabrielle; Barjhoux, Laure; Goidin, Didier; Meyer, Vincent; Le Gal, Dorothée; Beauvallet, Juana; Mebirouk, Noura; Lonjou, Christine; Coignard, Juliette; Marcou, Morgane; Cavaciuti, Eve; B... Journal: International journal of cancer Issue: Volume 144:Issue 8(2019) Page Start: 1962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan. Issue 4 (26th July 2020) Authors: Auzanneau, Céline; Bacq, Delphine; Bellera, Carine; Blons, Hélène; Boland, Anne; Boucheix, Marlène; Bourdon, Aurélien; Chollet, Emmanuelle; Chomienne, Christine; Deleuze, Jean-François; Delmas, Christelle; Dinart, Derek; Espérou, Hélène; Geillon, Flore; Geneste, Damien; Italiano, Antoine; Jean, D... Other Names: collab. Journal: ESMO open Issue: Volume 5:Issue 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden. (2nd May 2022) Authors: Gabriel, Aurélie A G; Atkins, Joshua R; Penha, Ricardo C C; Smith-Byrne, Karl; Gaborieau, Valerie; Voegele, Catherine; Abedi-Ardekani, Behnoush; Milojevic, Maja; Olaso, Robert; Meyer, Vincent; Boland, Anne; Deleuze, Jean François; Zaridze, David; Mukeriya, Anush; Swiatkowska, Beata; Janout, Vladi... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 8(2022) Page Start: 1159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. Issue 2 (6th December 2013) Authors: Dor, Talya; Cinnamon, Yuval; Raymond, Laure; Shaag, Avraham; Bouslam, Naima; Bouhouche, Ahmed; Gaussen, Marion; Meyer, Vincent; Durr, Alexandra; Brice, Alexis; Benomar, Ali; Stevanin, Giovanni; Schuelke, Markus; Edvardson, Simon Journal: Journal of medical genetics Issue: Volume 51:Issue 2(2014) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗