The sixth international RASopathies symposium: Precision medicine—From promise to practice.
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American Journal of Medical Genetics, Part A.
2020;
182:597-606.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo, H; Li, Y; Shen, L; Wang, T; Jia, X; Liu, L; Xu, T; Ou, M; Hoekzema, K; Wu, H; et al.
Science Advances.
2019;
5:eaax2166-eaax2166.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell, BE; Whaley, KG; Bove, KE; Labilloy, A; Lombardo, RC; Hopkin, RJ; Leslie, ND; Prada, C; Assouline, Z; Barcia, G; et al.
Hepatology.
2019;
70:1066-1070.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng, H; Gottlieb, L; Marchi, E; Kleyner, R; Bhardwaj, P; Rope, AF; Rosenheck, S; Moutton, S; Philippe, C; Eyaid, W; et al.
Human Molecular Genetics.
2019;
28:2900-2919.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro, V; Malintan, NT; Llano-Rivas, I; Spaeth, CG; Efthymiou, S; Striano, P; Vandrovcova, J; Cutrupi, MC; Chimenz, R; David, E; et al.
The American Journal of Human Genetics.
2019;
104:721-730.
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.
Kongkriangkai, AM; King, C; Martin, LJ; Wakefield, E; Prada, CE; Kelly-Mancuso, G; Schorry, EK.
American Journal of Medical Genetics, Part A.
2019;
179:602-607.
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Aljeaid, D; Isabel Sanchez, A; Wakefield, E; Chadwell, SE; Moore, N; Prada, CE; Zhang, W.
American Journal of Medical Genetics, Part A.
2019;
179:608-614.
Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.
Serrano, NC; Guio, E; Quintero-Lesmes, DC; Becerra-Bayona, S; Luna-Gonzalez, ML; Herrera, VM; Prada, CE.
Pregnancy Hypertension.
2018;
14:240-244.
Lysosomal Acid Lipase Deficiencies: Wolman Disease/ Cholesteryl Ester Storage Disease.
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Walker´s Pediatric Gastroenterology Diseases: Physiology, Diagnosis, and Management..
Raleigh, North Carolina: PMPH;
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Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.
Serai, SD; Naidu, AP; Burrow, TA; Prada, CE; Xanthakos, S; Towbin, AJ.
Molecular Genetics and Metabolism.
2018;
123:357-363.