1. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot. Issue 8 (8th April 2014) Authors: Rendu, John; Satre, Véronique; Testard, Hervé; Devillard, Francoise; Vieville, Gaëlle; Fauré, Julien; Amblard, Florence; Jouk, Pierre‐Simon; Coutton, Charles Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. Issue 10 (11th March 2020) Authors: Martinez, Guillaume; Beurois, Julie; Dacheux, Denis; Cazin, Caroline; Bidart, Marie; Kherraf, Zine-Eddine; Robinson, Derrick R; Satre, Véronique; Le Gac, Gerald; Ka, Chandran; Gourlaouen, Isabelle; Fichou, Yann; Petre, Graciane; Dulioust, Emmanuel; Zouari, Raoudha; Thierry-Mieg, Nicolas; Touré, A... Journal: Journal of medical genetics Issue: Volume 57:Issue 10(2020) Page Start: 708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. (29th April 2019) Authors: Hureaux, Marguerite; Guterman, Sarah; Hervé, Bérénice; Till, Marianne; Jaillard, Sylvie; Redon, Sylvie; Valduga, Myléne; Coutton, Charles; Missirian, Chantal; Prieur, Fabienne; Simon‐Bouy, Brigitte; Beneteau, Claire; Kuentz, Paul; Rooryck, Caroline; Gruchy, Nicolas; Marle, Nathalie; Plutino, Morg... Journal: Prenatal diagnosis Issue: Volume 39:Number 6(2019) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. (15th June 2018) Authors: Kherraf, Zine-Eddine; Conne, Beatrice; Amiri-Yekta, Amir; Kent, Marie Christou; Coutton, Charles; Escoffier, Jessica; Nef, Serge; Arnoult, Christophe; Ray, Pierre F. Journal: Molecular and cellular endocrinology Issue: Volume 468(2018) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deslorelin acetate implant induces transient sterility and behavior changes in male olive baboon (Papio anubis): A case study. Issue 6 (10th June 2020) Authors: Martinez, Guillaume; Lacoste, Romain; Dumasy, Marie; Garbit, Slaveia; Brouillet, Sophie; Coutton, Charles; Arnoult, Christophe; Druelle, François; Molina‐Vila, Pau Journal: Journal of medical primatology Issue: Volume 49:Issue 6(2020) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature. (7th September 2022) Authors: Capron, Céline; Januel, Louis; Vieville, Gaëlle; Jaillard, Sylvie; Kuentz, Paul; Salaun, Gaëlle; Nadeau, Gwenaël; Clement, Patrice; Brechard, Marie Pierre; Herve, Bérénice; Dupont, Jean Michel; Gruchy, Nicolas; Chambon, Pascal; Abdelhedi, Fatma; Dahlen, Eric; Vago, Philippe; Harbuz, Radu; Plotton... Journal: Andrology Issue: Volume 10:Number 8(2022) Page Start: 1625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗