1. 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) ↗
2. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report. Issue 5 (1st February 2016) Authors: Marguet, Florent; Laquerrière, Annie; Goldenberg, Alice; Guerrot, Anne‐Marie; Quenez, Olivier; Flahaut, Philippe; Vanhulle, Catherine; Dumant‐Forest, Clémentine; Charbonnier, Françoise; Vezain, Myriam; Bekri, Soumeya; Tournier, Isabelle; Frébourg, Thierry; Nicolas, Gaël Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. Issue 11 (7th August 2019) Authors: Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant‐Forest, Clémentine; Renaux‐Petel, Mariette; Leca, Jean‐Baptiste; Hazelzet, Tristan; Brasseur‐Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean‐Franço... Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder. Issue 3 (28th December 2022) Authors: Louvrier, Camille; El Khouri, Elma; Grall Lerosey, Martine; Quartier, Pierre; Guerrot, Anne‐Marie; Bader Meunier, Brigitte; Chican, Julie; Mohammad, Malaïka; Assrawi, Eman; Daskalopoulou, Aphrodite; Arenas Garcia, Angela; Copin, Bruno; Piterboth, William; Dastot Le Moal, Florence; Karabina, Sonia... Journal: Arthritis & rheumatology Issue: Volume 75:Issue 3(2023) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021) Authors: Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases1. (9th December 2016) Authors: Tessier, Aude; Sarreau, Mélie; Pelluard, Fanny; André, Gwenaelle; Blesson, Sophie; Bucourt, Martine; Dechelotte, Pierre; Faivre, Laurence; Frébourg, Thierry; Goldenberg, Alice; Goua, Valérie; Jeanne‐Pasquier, Corinne; Guimiot, Fabien; Laquerriere, Annie; Laurent, Nicole; Lefebvre, Mathilde; Loget... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Issue 9 (11th May 2022) Authors: O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, ... Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lessons learned from 40 novel PIGA patients and a review of the literature. (26th May 2020) Authors: Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R.; Moura de Souza, Carolina Fischinger; Freihuber, Céc... Journal: Epilepsia Issue: Volume 61:issue 6(2020) Page Start: 1142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified. Issue 11 (12th October 2018) Authors: Inal, Adlane; Chaumette, Boris; Soleimani, Maryam; Guerrot, Anne‐Marie; Goldenberg, Alice; Lebas, Axel; Gerardin, Priscille; Ferrafiat, Vladimir Journal: Clinical case reports Issue: Volume 6:Issue 11(2018) Page Start: 2234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Issue 4 (27th November 2017) Authors: Legendre, Marine; Abadie, Véronique; Attié‐Bitach, Tania; Philip, Nicole; Busa, Tiffany; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Lacombe, Didier; Toutain, Annick; Blesson, Sophie; Julia, Sophie; Martin‐Coignard, Dominique; Geneviève, David; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre‐... Other Names: van Ravenswaaij‐Arts Conny guestEditor.; Martin Donna M. guestEditor. Journal: American journal of medical genetics Issue: Volume 175:Issue 4(2017) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗