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Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; et al; Steindl, Katharina; Joset, Pascal; Ramantani, Georgia (2018). Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics, 103(6):948-967.

Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 94(1):62-72.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

This list was generated on Fri Feb 15 22:23:31 2019 CET.