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. An incidental finding of maternal multiple myeloma by non invasive prenatal testing. (28th November 2017) Authors: Imbert‐Bouteille, Marion; Chiesa, Jean; Gaillard, Jean‐Baptiste; Dorvaux, Véronique; Altounian, Lucille; Gatinois, Vincent; Mousty, Eve; Finge, Sanae; Bourquard, Pascal; Vermeesch, Joris Robert; Legius, Eric; Vandenberghe, Peter Journal: Prenatal diagnosis Issue: Volume 37:Number 12(2017) Page Start: 1257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Issue Volume 49:Issue W1(2021) (22nd May 2021) Authors: Geoffroy, Véronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Hélène; Scheidecker, Sophie; Muller, Jean Journal: Nucleic acids research Issue: Volume 49:Issue W1(2021) Page Start: W21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction. Issue 8 (25th July 2018) Authors: Pellestor, Franck; Gatinois, Vincent Journal: Human reproduction Issue: Volume 33:Issue 8(2018) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. (3rd April 2020) Authors: Gadsbøll, Kasper; Petersen, Olav B.; Gatinois, Vincent; Strange, Heather; Jacobsson, Bo; Wapner, Ronald; Vermeesch, Joris R.; Vogel, Ida Journal: Acta obstetricia et gynecologica Scandinavica Issue: Volume 99:Number 6(2020) Page Start: 722 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019) Authors: Ruault, Valentin; Corsini, Carole; Duflos, Claire; Akouete, Sandrine; Georgescu, Véra; Abaji, Mario; Alembick, Yves; Alix, Eudeline; Amiel, Jeanne; Amouroux, Cyril; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Burglen, Lydie; Busa, Tiffany; Cordier, ... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. (3rd September 2015) Authors: Schneider, Anouck; Puechberty, Jacques; Ng, Bee Ling; Coubes, Christine; Gatinois, Vincent; Tournaire, Magali; Girard, Manon; Dumont, Bruno; Bouret, Pauline; Magnetto, Julia; Baghdadli, Amaria; Pellestor, Franck; Geneviève, David Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3031 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. Issue 11 (7th September 2019) Authors: Gatinois, Vincent; Bigi, Nicole; Mousty, Eve; Chiesa, Jean; Musizzano, Yuri; Schneider, Anouck; Lefort, Geneviève; Pinson, Lucile; Gaillard, Jean‐Baptiste; Ragon, Clémence; Perez, Marie‐Josée; Tournaire, Magali; Blanchet, Patricia; Corsini, Carole; Haquet, Emmanuelle; Callier, Patrick; Geneviève,... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗