Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Peck, Dawn S, Lacey, Jean M, White, Amy L, Pino, Gisele, Studinski, April L, Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J Austin, Murray, Brianna K, Jones, Kelly L, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia
Published in International journal of neonatal screening (01.03.2020)
Published in International journal of neonatal screening (01.03.2020)
Get full text
Journal Article
Locoregional delivery of CAR-T cells in the clinic
Sagnella, Sharon M., White, Amy L., Yeo, Dannel, Saxena, Payal, van Zandwijk, Nico, Rasko, John E.J.
Published in Pharmacological research (01.08.2022)
Published in Pharmacological research (01.08.2022)
Get full text
Journal Article
Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians
Anderson, Karl E, Lobo, Raynah, Salazar, Denise, Schloetter, Mary, Spitzer, Gary, White, Amy L, Young, Randolph M, Bonkovsky, Herbert L, Frank, Elizabeth L, Mora, Jordanna, Tortorelli, Silvia
Published in The American journal of the medical sciences (01.08.2021)
Published in The American journal of the medical sciences (01.08.2021)
Get more information
Journal Article
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Guenzel, Adam J, Turgeon, Coleman T, Nickander, Kim K, White, Amy L, Peck, Dawn S, Pino, Gisele B, Studinski, April L, Prasad, Vinod K, Kurtzberg, Joanne, Escolar, Maria L, Lasio, Maria Laura Duque, Pellegrino, Joan E, Sakonju, Ai, Hickey, Rachel E, Shallow, Natalie M, Ream, Margie A, Orsini, Joseph J, Gelb, Michael H, Raymond, Kimiyo, Gavrilov, Dimitar K, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
Get full text
Journal Article
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders
Wegwerth, Peter J., White, Amy L., Stoway, Stephanie D., Loken, Perry R., Oglesbee, Devin, Matern, Dietrich, Tortorelli, Silvia, Raymond, Kimiyo M., Braverman, Nancy E., Gavrilov, Dimitar K.
Published in Journal of inherited metabolic disease (01.11.2023)
Published in Journal of inherited metabolic disease (01.11.2023)
Get full text
Journal Article
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shimada, Shino, Ng, Bobby G, White, Amy L, Nickander, Kim K, Turgeon, Coleman, Liedtke, Kristen L, Lam, Christina T, Font-Montgomery, Esperanza, Lourenco, Charles M, He, Miao, Peck, Dawn S, Umana, Luis A, Uhles, Crescenda L, Haynes, Devon, Wheeler, Patricia G, Bamshad, Michael J, Nickerson, Deborah A, Cushing, Tom, Gates, Ryan, Gomez-Ospina, Natalia, Byers, Heather M, Scalco, Fernanda B, Martinez, Noelia N, Sachdev, Rani, Smith, Lacey, Poduri, Annapurna, Malone, Stephen, Harris, Rebekah V, Scheffer, Ingrid E, Rosenzweig, Sergio D, Adams, David R, Gahl, William A, Malicdan, May Christine V, Raymond, Kimiyo M, Freeze, Hudson H, Wolfe, Lynne A, Bamshad, Michael J, Nickerson, Deborah A, Anderson, Peter, Bacus, Tamara J, Blue, Elizabeth E, Brower, Katherine, Buckingham, Kati J, Chong, Jessica X, Davis, Colleen P, Davis, Chayna J, Frazar, Christian D, Gomeztagle-Burgess, Katherine, Gordon, William W, Horike-Pyne, Martha, Hurless, Jameson R, Jarvik, Gail P, Johanson, Eric, Thomas Kolar, J, Marvin, Colby T, McGee, Sean, McGoldrick, Daniel J, Mekonnen, Betselote, Nielsen, Patrick M, Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A, Roote, Gwendolin T, Ryke, Erica L, Shively, Kathryn M, Smith, Joshua D, Tackett, Monica, Weiss, Jeffrey M, Wheeler, Marsha M, Yi, Qian, Zhang, Xiaohong
Published in Journal of medical genetics (05.07.2022)
Published in Journal of medical genetics (05.07.2022)
Get full text
Journal Article
Solitary plasmacytoma of the medial clavicle
Tan, Eric W, White, Amy L, Attar, Sarner, Petersen, Steven A
Published in The American journal of orthopedics (Belle Mead, N.J.) (01.05.2013)
Get more information
Published in The American journal of orthopedics (Belle Mead, N.J.) (01.05.2013)
Journal Article
Natural history of rhizomelic chondrodysplasia punctata
White, Amy L., Modaff, Peggy, Holland-Morris, Francesca, Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.05.2003)
Published in American journal of medical genetics. Part A (01.05.2003)
Get full text
Journal Article
Creating genetics-based infusion centers: a case study of two models
Laney, Dawn J., White, Amy L., Rhead, William J., Fernhoff, Paul
Published in Genetics in medicine (01.08.2008)
Published in Genetics in medicine (01.08.2008)
Get full text
Journal Article
Outcomes of newborn screening for Krabbe disease and their impact on selecting an effective screening approach
White, Amy L., Gavrilov, Dimitar, Pino, Gisele, Oglesbee, Devin, Peck, Dawn, Raymond, Kimiyo, Studinski, April, Tortorelli, Silvia, Matern, Dietrich
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
Get full text
Journal Article
Comparison of psychosine analysis in dried blood spots and red blood cells from children with Krabbe disease
White, Amy L., Escolar, Maria L., Peck, Dawn, Pino, Gisele, Studinski, April, Hoganson, George E., Kurtzberg, Joanne, Raymond, Kimiyo, Gavrilov, Dimitar, Oglesbee, Devin, Tortorelli, Silvia, Matern, Dietrich
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
Get full text
Journal Article
Laboratory follow up after abnormal newborn screening for lysosomal disorders
Peck, Dawn, Pino, Gessi Bentz, Studinksi, April, White, Amy L., Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
Get full text
Journal Article
Comparison of clinical practice guidelines and actual clinical practice in Fabry disease diagnosis
Laney, Dawn A., White, Amy L., Holida, Myrl, Clarke, Virginia, Lipinski, Shawn, Berry, Lisa, May, Katie, Long, Katie
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
Get full text
Journal Article
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Peck, Dawn S, Lacey, Jean M, White, Amy L, Pino, Gisele, Studinski, April L, Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J Austin, Murray, Brianna K, Jones, Kelly L, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia
Published in International journal of neonatal screening (07.02.2020)
Get full text
Published in International journal of neonatal screening (07.02.2020)
Journal Article