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. 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) ↗
3. 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) ↗
4. De novo 15q13.3 microdeletion with cryptogenic west syndrome. Issue 10 (8th August 2013) Authors: Lacaze, Elodie; Gruchy, Nicolas; Penniello‐Valette, Marie‐José; Plessis, Ghislaine; Richard, Nicolas; Decamp, Mathieu; Mittre, Hervé; Leporrier, Nathalie; Andrieux, Joris; Kottler, Marie‐Laure; Gerard, Marion Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Issue 5 (1st March 2020) Authors: Lecoquierre, François; Brehin, Anne‐Claire; Coutant, Sophie; Coursimault, Juliette; Bazin, Anne; Finck, Wilfrid; Benoist, Guillaume; Begorre, Marianne; Beneteau, Claire; Cailliez, Daniel; Chenal, Pierre; De Jong, Mirjam; Degré, Sophie; Devisme, Louise; Francannet, Christine; Gérard, Bénédicte; Je... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations. (13th January 2020) Authors: Snanoudj, Sarah; Molin, Arnaud; Colson, Cindy; Coudray, Nadia; Paulien, Sylvie; Mittre, Hervé; Gérard, Marion; Schaefer, Elise; Goldenberg, Alice; Bacchetta, Justine; Odent, Sylvie; Naudion, Sophie; Demeer, Bénédicte; Faivre, Laurence; Gruchy, Nicolas; Kottler, Marie‐Laure; Richard, Nicolas Journal: Journal of bone and mineral research Issue: Volume 35:Number 5(2020) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study. (10th May 2016) Authors: Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly‐Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux‐Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel‐Roy, Camille; Carré‐Pigeon, Frédérique; Flori, E... Journal: Prenatal diagnosis Issue: Volume 36:Number 6(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center. Issue 2 (14th July 2015) Authors: Viaris de le Segno, Benjamin; Gruchy, Nicolas; Bronfen, Corinne; Dolley, Patricia; Leporrier, Nathalie; Creveuil, Christian; Benoist, Guillaume Journal: Journal of clinical ultrasound Issue: Volume 44:Issue 2(2016:Feb.) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome. Issue 2 (6th February 2014) Authors: Marcato, Livia; Turolla, Licia; Pompilii, Eva; Dupont, Celine; Gruchy, Nicolas; De Toffol, Simona; Bracalente, Gabriella; Bacrot, Severine; Troilo, Enzo; Tabet, Anne C.; Rossi, Sabrina; Delezoïde, Anne L.; Baldo, Demetrio; Leporrier, Nathalie; Maggi, Federico; Molin, Arnaud; Pilu, Gianluigi; Simo... Journal: Clinical case reports Issue: Volume 2:Issue 2(2014:Apr.) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗