1. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013) Authors: Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Issue 3 (5th July 2022) Authors: Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Fares Taie, Lucas; Almontashiri, Naif A; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G; Nassif, Christina; Attie-Bitach, Tania; M... Journal: Journal of medical genetics Issue: Volume 60:Issue 3(2023) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew‐Wood syndrome. Issue 4 (1st March 2017) Authors: Sadowski, Samantha; Chassaing, Nicolas; Gaj, Zuzanna; Czichos, Ewa; Wilczynski, Jan; Nowakowska, Dorota Journal: Birth defects research Issue: Volume 109:Issue 4(2017) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation. Issue 9 (September 2016) Authors: Faguer, Stanislas; Esposito, Laure; Casemayou, Audrey; Pirson, Yves; Decramer, Stéphane; Cartery, Claire; Hazzan, Marc; Garrigue, Valérie; Roussey, Gwenaelle; Cointault, Olivier; Ho, Thien; Merville, Pierre; Devuyst, Olivier; Gourdy, Pierre; Chassaing, Nicolas; Bascands, Jean-Loup; Kamar, Nassim;... Journal: Transplantation Issue: Volume 100:Issue 9(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Issue 5 (10th March 2020) Authors: Chesneau, Bertrand; Edouard, Thomas; Dulac, Yves; Colineaux, Hélène; Langeois, Maud; Hanna, Nadine; Boileau, Catherine; Arnaud, Pauline; Chassaing, Nicolas; Julia, Sophie; Jondeau, Guillaume; Plancke, Aurélie; Khau Van Kien, Philippe; Plaisancié, Julie Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016) Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the KIF4A‐associated phenotype. Issue 12 (3rd August 2021) Authors: Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; Abdel‐Salam, Ghada M. H.; Alkuraya, Fowzan; Kato, Mitsuhiro; Matsumoto, Naomichi; Miyatake, Satoko; Yamamoto, Tatsuya; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Chassaing, Nicolas; Vincent‐Delorme, Catherine; Kang‐Bellin, Anjeung; McWalter, Kirst... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. First implication of MIP in bilateral microphthalmia with persistent fetal vasculature. Issue 5 (3rd February 2023) Authors: Santorini, Mélissa; Chesneau, Bertrand; Koskas‐Boublil, Patricia; Metge, Florence; Caputo, Georges; Chassaing, Nicolas; Martin, Gilles; Plaisancié, Julie Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗