1. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes. Issue 3 (18th February 2019) Authors: Mary, Laura; Chennen, Kirsley; Stoetzel, Corinne; Antin, Manuela; Leuvrey, Anne; Nourisson, Elsa; Alanio‐Detton, Elisabeth; Antal, Maria C.; Attié‐Bitach, Tania; Bouvagnet, Patrice; Bouvier, Raymonde; Buenerd, Annie; Clémenson, Alix; Devisme, Louise; Gasser, Bernard; Gilbert‐Dussardier, Brigitte;... Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome. Issue 10 (5th August 2013) Authors: Dupont, Céline; Baumann, Clarisse; Le Du, Nathalie; Schaefer, Elise; Guimiot, Fabien; Boutaud, Lucile; Capri, Yline; Spaggiari, Emmanuel; Aboura, Azzedine; Benzacken, Brigitte; Tabet, Anne‐Claude Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients. Issue 3 (March 2020) Authors: Lutz, Jean-Christophe; Nicot, Romain; Schlund, Matthias; Schaefer, Elise; Bornert, Fabien; Fioretti, Florence; Ferri, Joël Journal: Journal of cranio-maxillofacial surgery Issue: Volume 48:Issue 3(2020) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly. Issue 5 (17th April 2012) Authors: Marion, Vincent; Stutzmann, Fanny; Gérard, Marion; De Melo, Charlie; Schaefer, Elise; Claussmann, Aurélie; Hellé, Sophie; Delague, Valérie; Souied, Eric; Barrey, Catherine; Verloes, Alain; Stoetzel, Corinne; Dollfus, Hélène Journal: Journal of medical genetics Issue: Volume 49:Issue 5(2012) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). Issue 2 (11th September 2013) Authors: Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W; Geoffroy, Véronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valérie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Strähle, Uwe; Nachury, Maxence V; Dollfus, Hélène Journal: Journal of medical genetics Issue: Volume 51:Issue 2(2014) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗