New targets for monitoring and therapy in Barth syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb .
Thompson W Reid, DeCroes Brittany, McClellan Rebecca, Rubens Jessica, Vaz Frédéric M, Kristaponis Kara, Avramopoulos Dimitrios, Vernon Hilary
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Mar .
Wassif Christopher A, Cross Joanna L, Iben James, Sanchez-Pulido Luis, Cougnoux Antony, Platt Frances M, Ory Daniel S, Ponting Chris P, Bailey-Wilson Joan E, Biesecker Leslie G, Porter Forbes