1. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. (1st September 2019) Authors: Cassinari, Kévin; Quenez, Olivier; Joly-Hélas, Géraldine; Beaussire, Ludivine; Le Meur, Nathalie; Castelain, Mathieu; Goldenberg, Alice; Guerrot, Anne-Marie; Brehin, Anne-Claire; Deleuze, Jean-François; Boland, Anne; Rovelet-Lecrux, Anne; Campion, Dominique; Saugier-Veber, Pascale; Gruchy, Nicola... Journal: Clinical chemistry Issue: Volume 65:Number 9(2019) Page Start: 1153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Brain calcifications and PCDH12 variants. (August 2017) Authors: Nicolas, Gaël; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R.; Ferreira, Joana; Moura, Denis; Sobrido, Maria J.; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-François; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Dani... Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report. Issue 5 (1st February 2016) Authors: Marguet, Florent; Laquerrière, Annie; Goldenberg, Alice; Guerrot, Anne‐Marie; Quenez, Olivier; Flahaut, Philippe; Vanhulle, Catherine; Dumant‐Forest, Clémentine; Charbonnier, Françoise; Vezain, Myriam; Bekri, Soumeya; Tournier, Isabelle; Frébourg, Thierry; Nicolas, Gaël Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease. (1st February 2022) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G.J.; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny; Dols‐Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W.; Berr... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 3 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease. (December 2021) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G.J.; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny; Dols‐Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W.; Berr... Journal: Alzheimer's & dementia Issue: Volume 17(2021)Supplement 3 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing identifies three novel AD‐associated genes: Genetics/genetic factors of Alzheimer's disease. (7th December 2020) Authors: Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier‐Boley, Benjamin; Quenez, Olivier; Ahmad, Shahzad; Amin, Najaf; van Rooij, Jeroen G.J.; Grozeva, Detelina; Norsworthy, Penny; Hummerich, Holger; Kawalia, Amit; Mok, Kin Y.; Shoai, Maryam; Dols‐Icardo, Oriol; van Der Flier, Wiesje; Sims,... Journal: Alzheimer's & dementia Issue: Volume 16(2020)Supplement 2 Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Issue 8 (7th June 2020) Authors: Cassinari, Kévin; Rovelet‐Lecrux, Anne; Tury, Sandrine; Quenez, Olivier; Richard, Anne‐Claire; Charbonnier, Camille; Olaso, Robert; Boland, Anne; Deleuze, Jean‐François; Besancenot, Jean‐François; Delpont, Benoit; Pouliquen, Dorothée; Lecoquierre, François; Chambon, Pascal; Thauvin‐Robinet, Chris... Journal: Movement disorders Issue: Volume 35:Issue 8(2020) Page Start: 1336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗