1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. Issue 3 (9th December 2017) Authors: Heide, Solveig; Chantot-Bastaraud, Sandra; Keren, Boris; Harbison, Madeleine D; Azzi, Salah; Rossignol, Sylvie; Michot, Caroline; Lackmy-Port Lys, Marilyn; Demeer, Bénédicte; Heinrichs, Claudine; Newfield, Ron S; Sarda, Pierre; Van Maldergem, Lionel; Trifard, Véronique; Giabicani, Eloise; Siffroi... Journal: Journal of medical genetics Issue: Volume 55:Issue 3(2018) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020) Authors: Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Issue 7 (28th July 2021) Authors: Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenja... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. G01 Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. (12th September 2022) Authors: Pierron, Lucie; Tezenas du Montcel, Sophie; Heinzmann, Anna; Coarelli, Giulia; Héron, Delphine; Heide, Solveig; Herson, Ariane; Hennessy, Juliette; Petit, Elodie; Gargiulo, Marcela; Durr, Alexandra Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93(2022)Supplement 1 Page Start: A62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017) Authors: Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Issue 3 (15th December 2021) Authors: Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, ... Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations. Issue 3 (15th December 2020) Authors: Garde, Aurore; Cornaton, Jenny; Sorlin, Arthur; Moutton, Sébastien; Nicolas, Claire; Juif, Christine; Geneviève, David; Perrin, Laurence; Khau‐Van‐Kien, Philippe; Smol, Thomas; Vincent‐Delorme, Catherine; Isidor, Bertrand; Cogné, Benjamin; Afenjar, Alexandra; Keren, Boris; Coubes, Christine; Prie... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New generation sequencing for the diagnosis of intellectual disabilities: Exome sequencing or large panel?. (June 2017) Authors: Lavillaureix, Alinoe; Nava, Caroline; Mignot, Cyril; Buratti, Julien; Afenjar, Alexandra; Heide, Solveig; Keren, Boris; Héron, Delphine Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers. Issue 3 (March 2015) Authors: Rouen, Alexandre; Lavillaureix, Alinoë; Hyon, Capucine; Heide, Solveig; Clède, Sylvain; Balet, Richard; Kott, Esther; Cassuto, Nino Guy; Siffroi, Jean-Pierre Journal: Reproductive biomedicine online Issue: Volume 30:Issue 3(2015) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗