1. Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies". (20th May 2019) Authors: Chatron, Nicolas; Raymond, Laure; Schluth‐Bolard, Caroline; Bardel, Claire; Huissoud, Cyril; Nouchy, Marc; Sanlaville, Damien; Massoud, Mona Journal: Prenatal diagnosis Issue: Volume 39:Number 7(2019) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Issue 1 (11th November 2017) Authors: Durand, Christelle M.; Dhers, Laura; Tesson, Christelle; Tessa, Alessandra; Fouillen, Laetitia; Jacqueré, Stéphanie; Raymond, Laure; Coupry, Isabelle; Benard, Giovanni; Darios, Frédéric; El‐ Hachimi, Khalid H.; Astrea, Guja; Rivier, François; Banneau, Guillaume; Pujol, Claire; Lacombe, Didier; Du... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant. Issue 4 (2nd December 2022) Authors: Robert, Thomas; Savenkoff, Benjamin; Legris, Tristan; Raymond, Laure; Torrents, Julia; Burtey, Stéphane; Dancer, Marine Journal: Nephrology dialysis transplantation Issue: Volume 38:Issue 4(2023) Page Start: 1057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Issue 12 (22nd September 2022) Authors: Testard, Quentin; Vanhoye, Xavier; Yauy, Kevin; Naud, Marie-Emmanuelle; Vieville, Gaelle; Rousseau, Francis; Dauriat, Benjamin; Marquet, Valentine; Bourthoumieu, Sylvie; Geneviève, David; Gatinois, Vincent; Wells, Constance; Willems, Marjolaine; Coubes, Christine; Pinson, Lucile; Dard, Rodolphe; ... Journal: Journal of medical genetics Issue: Volume 59:Issue 12(2022) Page Start: 1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FC030: Diagnostic Yield of Exome Sequencing in Hypertensive Nephropathy. (3rd May 2022) Authors: Serre, Justine; Rafat, Cédric; Raymond, Laure; Dancer, Marine; Werion, Alexis; Nobile, Giulio; Bobot, Mickaël; Rondeau, Eric; Mesnard, Laurent; Doreille, Alice Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. FC034: Genomic Approach of the Undetermined Kidney Disease. (3rd May 2022) Authors: Robert, Thomas; Dussol, Bertrand; Jourde-Chiche, Noemie; Legris, Tristan; Moal, Valérie; Sallee, Marion; Pelletier, Marion; Raymond, Laure; Brunet, Philippe; Burtey, Stephane Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. MO043: Role of the I416L variant of complement factor I in the occurrence of thrombotic microangiopathy among patients of African ancestry. (3rd May 2022) Authors: Nobile, Giulio; Doreille, Alice; Raymond, Laure; Robert, Thomas; Villie, Patricia; Mesnard, Laurent; Rafat, Cédric Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗