1. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. Issue 12 (7th October 2016) Authors: Lerat, Justine; Jonard, Laurence; Loundon, Natalie; Christin‐Maitre, Sophie; Lacombe, Didier; Goizet, Cyril; Rouzier, Cécile; Van Maldergem, Lionel; Gherbi, Souad; Garabedian, Eréa‐Nöel; Bonnefont, Jean‐ Paul; Touraine, Philippe; Mosnier, Isabelle; Munnich, Arnold; Denoyelle, Françoise; Marlin, S... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients. Issue 5 (29th January 2014) Authors: Greally, Marie T.; Kalis, Neale N.; Agab, Wahid; Ardati, Kasim; Giurgea, Sanda; Kornak, Uwe; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function. Issue 8 (4th June 2018) Authors: Ruaud, Lyse; Rice, Gillian I.; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher‐Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François‐Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Liv... Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bifid nose as the sole manifestation of BNAR syndrome, a FREM1‐related condition. Issue 5 (14th September 2020) Authors: Brischoux‐Boucher, Elise; Dahlen, Eric; Gronier, Céline; Nobili, François; Marcoux, Estelle; Alkuraya, Fowzan S.; Van Maldergem, Lionel Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa. Issue 1 (13th August 2012) Authors: Callewaert, Bert; Su, Chi‐Ting; Van Damme, Tim; Vlummens, Philip; Malfait, Fransiska; Vanakker, Olivier; Schulz, Bianca; Mac Neal, Meghan; Davis, Elaine C.; Lee, Joseph G.H.; Salhi, Aicha; Unger, Sheila; Heimdal, Ketil; De Almeida, Salome; Kornak, Uwe; Gaspar, Harald; Bresson, Jean‐Luc; Prescott,... Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity. Issue 6 (25th March 2020) Authors: Serey‐Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande‐Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Issue 3 (17th January 2018) Authors: Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A.; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B.; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗