1. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. Issue 6 (19th March 2019) Authors: Conrad, Solène; Demurger, Florence; Moradkhani, Kamran; Pichon, Olivier; Le Caignec, Cédric; Pascal, Cécile; Thomas, Caroline; Bayart, Sophie; Perlat, Antoinette; Dubourg, Christèle; Jaillard, Sylvie; Nizon, Mathilde Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology. Issue 1 (December 2016) Authors: Jaillard, Sylvie; Akloul, Linda; Beaumont, Marion; Hamdi-Roze, Houda; Dubourg, Christele; Odent, Sylvie; Duros, Solène; Dejucq-Rainsford, Nathalie; Belaud-Rotureau, Marc-Antoine; Ravel, Célia Journal: Journal of ovarian research Issue: Volume 9:Issue 1(2016) Page Start: 1 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. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review. (2nd April 2015) Authors: El Khattabi, Laïla; Jaillard, Sylvie; Andrieux, Joris; Pasquier, Laurent; Perrin, Laurence; Capri, Yline; Benmansour, Abdelmadjid; Toutain, Annick; Marcorelles, Pascale; Vincent‐Delorme, Catherine; Journel, Hubert; Henry, Catherine; De Barace, Claire; Devisme, Louise; Dubourg, Christèle; Demurger... Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency. Issue 10 (29th July 2022) Authors: Tucker, Elena J.; Gutfreund, Niklas; Belaud‐Rotureau, Marc‐Antoine; Gilot, David; Brun, Tiffany; Kline, Brianna L.; Bell, Katrina M.; Domin‐Bernhard, Mathilde; Théard, Camille; Touraine, Philippe; Robevska, Gorjana; van van den Bergen, Jocelyn; Ayers, Katie L.; Sinclair, Andrew H.; Dötsch, Volker... Journal: Human mutation Issue: Volume 43:Issue 10(2022) Page Start: 1443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation. Issue 10 (26th June 2014) Authors: Quelin, Chloe; Spaggiari, Emmanuel; Khung‐Savatovsky, Suonavy; Dupont, Celine; Pasquier, Laurent; Loeuillet, Laurence; Jaillard, Sylvie; Lucas, Josette; Marcorelles, Pascale; Journel, Hubert; Pluquailec‐Bilavarn, Khantaby; Bazin, Anne; Verloes, Alain; Delezoide, Anne‐Lise; Aboura, Azzedine; Guimi... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation. Issue 10 (26th June 2014) Authors: Quelin, Chloe; Spaggiari, Emmanuel; Khung‐Savatovsky, Suonavy; Dupont, Celine; Pasquier, Laurent; Loeuillet, Laurence; Jaillard, Sylvie; Lucas, Josette; Marcorelles, Pascale; Journel, Hubert; Pluquailec‐Bilavarn, Khantaby; Bazin, Anne; Verloes, Alain; Delezoide, Anne‐Lise; Aboura, Azzedine; Guimi... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases. Issue 11 (22nd September 2011) Authors: Mercier, Sandra; Dubourg, Christèle; Garcelon, Nicolas; Campillo-Gimenez, Boris; Gicquel, Isabelle; Belleguic, Marion; Ratié, Leslie; Pasquier, Laurent; Loget, Philippe; Bendavid, Claude; Jaillard, Sylvie; Rochard, Lucie; Quélin, Chloé; Dupé, Valérie; David, Véronique; Odent, Sylvie Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. (November 2020) Authors: Jaillard, Sylvie; Bell, Katrina; Akloul, Linda; Walton, Kelly; McElreavy, Kenneth; Stocker, William A.; Beaumont, Marion; Harrisson, Craig; Jääskeläinen, Tiina; Palvimo, Jorma J.; Robevska, Gorjana; Launay, Erika; Satié, Anne-Pascale; Listyasari, Nurin; Bendavid, Claude; Sreenivasan, Rajini; Duro... Journal: Maturitas Issue: Volume 141(2020) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗