1. A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. Issue 9 (24th June 2010) Authors: Cho, Tae-Joon; Kim, Ok-Hwa; Choi, In Ho; Nishimura, Gen; Superti-Furga, Andrea; Kim, Kang Suhp; Lee, Young-Ju; Park, Woong-Yang Journal: Journal of medical genetics Issue: Volume 47:Issue 9(2010) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. Issue 3 (July 2018) Authors: Maroofian, Reza; Murdocca, Michela; Rezaei-Delui, Hossein; Nekooei, Amirhossein; Mojarad, Majid; Sangiuolo, Federica; Novelli, Giuseppe; Superti-Furga, Andrea; D'Apice, Maria Rosaria Journal: Clinical dysmorphology Issue: Volume 27:Issue 3(2018:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. (4th March 2019) Authors: Peter, Virginie G.; Nikopoulos, Konstantinos; Quinodoz, Mathieu; Granse, Lotta; Farinelli, Pietro; Superti-Furga, Andrea; Andréasson, Sten; Rivolta, Carlo Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. AB1035 MAFB-VARIANTS IN MULTICENTRIC CARPOTARSAL OSTEOLYSIS WITH NEPHROPATHY DO NOT SEEM TO AFFECT SERUM C1Q CONCENTRATION. (June 2019) Authors: Papa, Riccardo; Madeo, Annalisa; Volpi, Stefano; Caorsi, Roberta; Barbano, Giancarlo; Botto, Marina; Campos-Xavier, Belinda; Superti-Furga, Andrea; Gattorno, Marco; Rocco, Maja DI; Picco, Paolo Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1982 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020) Authors: Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Issue 3 (4th January 2021) Authors: Dentici, Maria Lisa; Alesi, Viola; Quinodoz, Mathieu; Robens, Barbara; Guerin, Andrea; Lebon, Sébastien; Poduri, Annapurna; Travaglini, Lorena; Graziola, Federica; Afenjar, Alexandra; Keren, Boris; Licursi, Valerio; Capuano, Alessandro; Dallapiccola, Bruno; Superti-Furga, Andrea; Novelli, Antonio Journal: Journal of medical genetics Issue: Volume 59:Issue 3(2022) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. Issue 1 (30th October 2010) Authors: Furuichi, Tatsuya; Dai, Jin; Cho, Tae-Joon; Sakazume, Satoru; Ikema, Masahide; Matsui, Yoshito; Baynam, Gareth; Nagai, Toshiro; Miyake, Noriko; Matsumoto, Naomichi; Ohashi, Hirofumi; Unger, Sheila; Superti-Furga, Andrea; Kim, Ok-Hwa; Nishimura, Gen; Ikegawa, Shiro Journal: Journal of medical genetics Issue: Volume 48:Issue 1(2011) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Complex cranio-vertebral malformation: disruption sequence or iniencephaly?. Issue 3 (July 2018) Authors: Pollazzon, Marzia; Rosato, Simonetta; Ivanovski, Ivan; Gelmini, Chiara; Bertani, Gianna; Pascarella, Rosario; Napoli, Manuela; Garavelli, Livia; Unger, Sheila; Superti-Furga, Andrea Journal: Clinical dysmorphology Issue: Volume 27:Issue 3(2018:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Issue 5 (1st March 2013) Authors: Schmidts, Miriam; Arts, Heleen H; Bongers, Ernie M H F; Yap, Zhimin; Oud, Machteld M; Antony, Dinu; Duijkers, Lonneke; Emes, Richard D; Stalker, Jim; Yntema, Jan-Bart L; Plagnol, Vincent; Hoischen, Alexander; Gilissen, Christian; Forsythe, Elisabeth; Lausch, Ekkehart; Veltman, Joris A; Roeleveld,... Other Names: contributor. Journal: Journal of medical genetics Issue: Volume 50:Issue 5(2013) Page Start: 309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia. Issue 1 (12th September 2022) Authors: Rivera-Vargas, Jehú; Superti-Furga, Andrea; Bonafé, Luisa; Peña-Padilla, Christian; Cortés-Pastrana, Rocío Carolina; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román Journal: Clinical dysmorphology Issue: Volume 32:Issue 1(2023) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗