Parameters of immunoglobulin extraction from dried blood spot cards and immunoassays for detection of antibody response to pathogens including the novel SARS-CoV-2

di Iankov, Ianko, Viker, Kimberly, Turgeon, Coleman, Matern, Dietrich, Galanis, Evanthia
Pubblicato in J Immunol Methods (2021)

Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots

di Turgeon, Coleman T., Sanders, Karen A., Rinaldo, Piero, Granger, Dane, Hilgart, Heather, Matern, Dietrich, Theel, Elitza S.
Pubblicato in PLoS One (2021)

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

di Brown, Madalyn, Turgeon, Coleman, Rinaldo, Piero, Pop, Ana, Salomons, Gajja S., Roullet, Jean‐Baptiste, Gibson, K. Michael
Pubblicato in JIMD Rep (2020)

Detection of SARS-CoV-2 IgG antibodies in dried blood spots

di Turgeon, Coleman T., Sanders, Karen A., Granger, Dane, Nett, Stephanie L., Hilgart, Heather, Matern, Dietrich, Theel, Elitza S.
Pubblicato in Diagn Microbiol Infect Dis (2021)

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

di Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero
Pubblicato in Int J Neonatal Screen (2020)

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

di Herbst, Zackary, Turgeon, Coleman T., Biski, Chad, Khaledi, Hamid, Shoemaker, Nancy B., DeArmond, Patrick D., Smith, Sara, Orsini, Joseph, Matern, Dietrich, Gelb, Michael H.
Pubblicato in Int J Neonatal Screen (2020)

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

di Kirby, Trevor, Walters, Dana C., Brown, Madalyn, Jansen, Erwin, Salomons, Gajja S., Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael
Pubblicato in Metab Brain Dis (2020)

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

di Kirby, Trevor, Walters, Dana C., Brown, Madalyn, Jansen, Erwin, Salomons, Gajja S., Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael
Pubblicato in Metab Brain Dis (2020)

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

di Kirby, Trevor, Walters, Dana C., Shi, Xutong, Turgeon, Coleman, Rinaldo, Piero, Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, DiBacco, Melissa, Pearl, Phillip L., Roullet, Jean-Baptiste, Gibson, K. Michael
Pubblicato in Orphanet J Rare Dis (2020)

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace...

di Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, Jennifer M., Gallagher, Renata
Pubblicato in Int J Neonatal Screen (2020)

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

di Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal-Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina
Pubblicato in Am J Med Genet A (2020)

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †

di Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean M., Turgeon, Coleman T., Tucker, Justin N., Tang, Hao, Currier, Robert, Isaya, Grazia, Rinaldo, Piero, Matern, Dietrich
Pubblicato in Int J Neonatal Screen (2020)

Bile Acid Profiles in Primary Sclerosing Cholangitis and their Ability to Predict Hepatic Decompensation

di Mousa, Omar Y., Juran, Brian D., McCauley, Bryan M., Vesterhus, Mette N., Folseraas, Trine, Turgeon, Coleman T., Ali, Ahmad H., Schlicht, Erik M., Atkinson, Elizabeth J., Hu, Chang, Harnois, Denise, Carey, Elizabeth J., Gossard, Andrea A., Oglesbee, Devin, Eaton, John E., LaRusso, Nicholas F., Gores, Gregory J., Karlsen, Tom H., Lazaridis, Konstantinos N.
Pubblicato in Hepatology (2021)

Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical Center

di Carter, Rickey E., Theel, Elitza S., Breeher, Laura E., Swift, Melanie D., Van Brunt, Nathan A., Smith, Windell R., Blanchfield, Lorrie L., Daugherty, Elizabeth A., Chapital, Alyssa B., Matson, Kathleen M., Bews, Katherine A., Johnson, Patrick W., Domnick, Robert A., Joyce, Diane E., Geyer, Holly L., Granger, Dane, Hilgart, Heather R., Turgeon, Coleman T., Sanders, Karen A., Matern, Dietrich, Nassar, Aziza, Sampathkumar, Priya, Hainy, Caitlin M., Orford, Robert R., Vachon, Celine M., Didehban, Roshanak, Morice, William G., Ting, Henry H., Williams, Amy W., Gray, Richard J., Thielen, Kent R., Farrugia, Gianrico
Pubblicato in Mayo Clin Proc (2021)

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

di Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Pubblicato in Am J Hum Genet (2018)