1. A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Issue 5 (24th March 2014) Authors: Lederer, Damien; Shears, Debbie; Benoit, Valérie; Verellen‐Dumoulin, Christine; Maystadt, Isabelle Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. (21st March 2023) Authors: Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De ... Journal: Neurology Issue: Volume 100:Number 12(2023) Page Start: e1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. Issue 12 (14th November 2017) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong‐Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin‐Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FOXP1-related intellectual disability syndrome: a recognisable entity. Issue 9 (22nd July 2017) Authors: Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; B... Journal: Journal of medical genetics Issue: Volume 54:Issue 9(2017) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Issue 2 (1st October 2020) Authors: Absalom, Nathan L; Liao, Vivian W Y; Kothur, Kavitha; Indurthi, Dinesh C; Bennetts, Bruce; Troedson, Christopher; Mohammad, Shekeeb S; Gupta, Sachin; McGregor, Iain S; Bowen, Michael T; Lederer, Damien; Mary, Sandrine; De Waele, Liesbeth; Jansen, Katrien; Gill, Deepak; Kurian, Manju A; McTague, A... Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗