Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Apr 24;pii:S1769-7212(14)00090-1.
Prada CE, Villamizar-Schiller IT.
Globus pallidus involvement as initial presentation of methylmalonic acidemia
.
Mov Disord
. 2014 Apr 21.
Prada CE, Grabowski GA.
Neuronopathic lysosomal storage diseases: Clinical and pathologic findings
.
Dev Disabil Res Rev
. 2013 Jun;17(3):226-46.
Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC.
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
.
Mol Syndromol
. 2013 Mar;4(3):107-13.
Tenney JR, Prada CE, Hopkin RJ, Hallinan BE.
Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant
.
J Child Neurol
.
2012
Nov 8.
Prada CE, Jousma E, Rizvi TA, Wu J, Dunn RS, Mayes DA, Cancelas JA, Dombi E, Kim MO, West BL, Bollag G, Ratner N. Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition. Acta Neuropathol. 2012 Oct 26.
Sund KL, Zimmerman SL, Thomas C, Mitchell AL, Prada CE, Grote L, Bao L, Martin LJ, Smolarek TA. Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships. Genet Med.
2012
Aug 2.
Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Recurrent Pancreatitis in Ornithine Transcarbamylase Deficiency. Mol Gen Metab .2012 Aug;106(4):482-4.
Prada CE, Jefferies JL, Grenier MA, Huth CM, Page KI, Spicer RL, Towbin JA, Leslie ND. Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. Pediatrics. 2012 Aug;130(2):e456-60.
Prada CE, Rangwala F, Lovell A, Schorry EK, Saal HM, Hopkin RJ. Pediatric plexiform neurofibromas: management and clinical outcomes. J Pediatr. 2012;160(3):461-467.10.
Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012;129(2):e431-417.