Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
International Journal Of Neonatal Screening
Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Ebiomedicine
Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.
Translational Psychiatry
An, J Y JY; Cristino, A S AS; Zhao, Q Q; Edson, J J; Williams, S M SM; Ravine, D D; Wray, J J; Marshall, V M VM; Hunt, A A; Whitehouse, A J O AJ; Claudianos, C C
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
American Journal Of Human Genetics
Sun, X X; Marks, D L DL; Park, W D WD; Wheatley, C L CL; Puri, V V; O'Brien, J F JF; Kraft, D L DL; Lundquist, P A PA; Patterson, M C MC; Pagano, R E RE; Snow, K K