Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes
Guidugli, L, Johnson, A K, Alkorta-Aranburu, G, Nelakuditi, V, Arndt, K, Churpek, J E, Godley, L A, Townsley, D, Young, N S, Fitzpatrick, C, Del Gaudio, D, Das, S, Li, Z
Published in Leukemia (01.05.2017)
Published in Leukemia (01.05.2017)
Get full text
Journal Article
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach
Alkorta-Aranburu, G., Carmody, D., Cheng, Y.W., Nelakuditi, V., Ma, L., Dickens, Jazzmyne T., Das, S., Greeley, S.A.W., del Gaudio, D.
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
Get full text
Journal Article
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles
Kou, Y.C., Shao, L., Peng, H.H., Rosetta, R., del Gaudio, D., Wagner, A.F., Al-Hussaini, T.K., Van den Veyver, I.B.
Published in Molecular human reproduction (01.01.2008)
Published in Molecular human reproduction (01.01.2008)
Get full text
Journal Article
22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
Get full text
Journal Article
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis
Tan, C.A., Topper, S., del Gaudio, D., Nelakuditi, V., Shchelochkov, O., Nowaczyk, M.J.M., Zeesman, S., Brady, L., Russell, L., Meeks, N., Sastry, S., Arndt, K., Kobiernicki, F., Shaw, R., Das, S.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
Get full text
Journal Article
Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory
Tan, CA, del Gaudio, D., Dempsey, M.A., Arndt, K., Botes, S., Reeder, A., Das, S.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
Get full text
Journal Article
Morphological design of complex oxides during pulsed-laser deposition: The role of plasma-plume expansion
Del Gaudio, D., Boone, C. T., Sallans, K., Mason, E., Williamson, A. J., Yarlagadda, S., Turkulets, Y., Heron, J. T., Shalish, I., Goldman, R. S.
Published in Journal of applied physics (14.11.2019)
Published in Journal of applied physics (14.11.2019)
Get full text
Journal Article
Influence of surface nano-patterning on the placement of InAs quantum dots
Del Gaudio, D., Aagesen, L. K., Huang, S., Johnson, T. M., Faeth, B. D., Lu, H., Ziff, R. M., Goldman, R. S.
Published in Journal of applied physics (21.09.2018)
Published in Journal of applied physics (21.09.2018)
Get full text
Journal Article
Large-scale individual monitoring of internal contamination by gamma-emitting radionuclides in nuclear accident scenarios
Vilardi, I, Antonacci, G, Battisti, P, Castellani, C-M, Ciciani, L, Del Gaudio, D, Giardina, I, Iurlaro, G, Rizzo, A, Sperandio, L
Published in Journal of radiological protection (01.03.2020)
Published in Journal of radiological protection (01.03.2020)
Get full text
Journal Article
Genetic typing of Corallium rubrum
del Gaudio, D, Fortunato, G, Borriello, M, Gili, J M, Buono, P, Calcagno, G, Salvatore, F, Sacchetti, L
Published in Marine biotechnology (New York, N.Y.) (01.12.2004)
Published in Marine biotechnology (New York, N.Y.) (01.12.2004)
Get full text
Journal Article
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
Moretti, P, Sahoo, T, Hyland, K, Bottiglieri, T, Peters, S, del Gaudio, D, Roa, B, Curry, S, Zhu, H, Finnell, R H, Neul, J L, Ramaekers, V T, Blau, N, Bacino, C A, Miller, G, Scaglia, F
Published in Neurology (22.03.2005)
Published in Neurology (22.03.2005)
Get more information
Journal Article
Prenatal diagnostic conundrum involving a novel ATP7A duplication
Schoonveld, C, Donsante, A, del Gaudio, D, Waggoner, D, Das, S, Kaler, SG
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
Get full text
Journal Article
Large duplication in MTM1 associated with myotubular myopathy
Amburgey, K, Lawlor, M.W, del Gaudio, D, Cheng, Y.W, Fitzpatrick, C, Minor, A, Li, X, Aughton, D, Das, S, Beggs, A.H, Dowling, J.J
Published in Neuromuscular disorders : NMD (01.03.2013)
Published in Neuromuscular disorders : NMD (01.03.2013)
Get full text
Journal Article
Coarsening effect on island-size scaling: the model case InAs/GaAs(001)
Fanfoni, M, Arciprete, F, Tirabassi, C, Del Gaudio, D, Filabozzi, A, Balzarotti, A, Patella, F, Placidi, E
Published in Physical review. E, Statistical, nonlinear, and soft matter physics (01.12.2012)
Published in Physical review. E, Statistical, nonlinear, and soft matter physics (01.12.2012)
Get more information
Journal Article
Current-induced spin polarization in InGaAs and GaAs epilayers with varying doping densities
Luengo-Kovac, M, Huang, S, D Del Gaudio, Occena, J, Goldman, R S, Raimondi, R, Sih, V
Published in arXiv.org (01.06.2017)
Published in arXiv.org (01.06.2017)
Get full text
Paper
Journal Article
Influence of surface nano-patterning on the placement of InAs quantum dots
Del Gaudio, D., Aagesen, L. K., Huang, S., Johnson, T. M., Faeth, B. D., Lu, H., Ziff, R. M., Goldman, R. S.
Published in Journal of applied physics (21.09.2018)
Get full text
Published in Journal of applied physics (21.09.2018)
Journal Article
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber A, Grebe, Theresa A, Freedenberg, Debra, Martin, Rick A, Hsich, Gary E, Khera, Jena R, Friedman, Neil R, Zoghbi, Huda Y, Eng, Christine M, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai, Roa, Benjamin B
Published in Genetics in medicine (01.12.2006)
Published in Genetics in medicine (01.12.2006)
Get full text
Journal Article
Paratesticular Mesenchymal Malignancies: A Single-Center Case Series, Clinical Management, and Review of Literature
Gatto, Lidia, Del Gaudio, Massimo, Ravaioli, Matteo, Cescon, Matteo, Tonini, Valeria, Cervellera, Maurizio, Franceschelli, Alessandro, Pirini, Maria Giulia, Di Scioscio, Valerio, Buia, Francesco, Niro, Fabio, Capizzi, Elisa, Fiorentino, Michelangelo, Astolfi, Annalisa, Indio, Valentina, Nannini, Margherita, Pantaleo, Maria Abbondanza, Saponara, Maristella
Published in Integrative cancer therapies (01.01.2020)
Published in Integrative cancer therapies (01.01.2020)
Get full text
Journal Article