Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions

Por Berry, Susan A., Leslie, Nancy D., Edick, Mathew J., Hiner, Sally, Justice, Kaitlin, Cameron, Cynthia
Publicado no Genet Med (2016)

Newborn screening 50 years later: access issues faced by adults with PKU

Por Berry, Susan A., Brown, Christine, Grant, Mitzie, Greene, Carol L., Jurecki, Elaina, Koch, Jean, Moseley, Kathryn, Suter, Ruth, van Calcar, Sandra C., Wiles, Judy, Cederbaum, Stephen
Publicado em 2013

221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Por Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A.
Publicado no Mol Genet Metab (2016)

Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in t...

Por McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., Pena, Loren D.M.
Publicado no J Pediatr (2016)

Phase 2 Comparison of A Novel Ammonia Scavenging Agent With Sodium Phenylbutyrate In Patients With Urea Cycle Disorders: Safety, Pharmacokinetics And Ammonia Control

Por Lee, Brendan, Rhead, William, Diaz, George A., Scharschmidt, Bruce F., Mian, Asad, Shchelochkov, Oleg, Marier, JF, Beliveau, Martin, Mauney, Joseph, Dickinson, Klara, Martinez, Antonia, Gargosky, Sharron, Mokhtarani, Masoud, Berry, Susan A.
Publicado em 2010

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Por Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Vockley, Cate Walsh, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A, Arnold, Georgianne L, Vockley, Jerry
Publicado no Mol Genet Metab (2016)

Glycerol Phenylbutyrate Treatment in Children with Urea Cycle Disorders: Pooled Analysis of Short and Long-term Ammonia Control and Outcomes

Por Berry, Susan A., Lichter-Konecki, Uta, Diaz, George A., McCandless, Shawn E., Rhead, William, Smith, Wendy, LeMons, Cynthia, Nagamani, Sandesh C.S., Coakley, Dion F., Mokhtarani, Masoud, Scharschmidt, Bruce F., Lee, Brendan
Publicado no Mol Genet Metab (2014)

Insurance coverage of medical foods for treatment of inherited metabolic disorders

Por Berry, Susan A., Kenney, Mary Kay, Harris, Katharine B., Singh, Rani H., Cameron, Cynthia A., Kraszewski, Jennifer N., Levy-Fisch, Jill, Shuger, Jill F., Greene, Carol L., Lloyd-Puryear, Michele A., Boyle, Coleen A.
Publicado no Genet Med (2013)

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Por Ensenauer, Regina, Vockley, Jerry, Willard, Jan-Marie, Huey, Joseph C., Sass, Jörn Oliver, Edland, Steven D., Burton, Barbara K., Berry, Susan A., Santer, René, Grünert, Sarah, Koch, Hans-Georg, Marquardt, Iris, Rinaldo, Piero, Hahn, Sihoun, Matern, Dietrich
Publicado em 2004

Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

Por Botkin, Jeffrey R., Lewis, Michelle Huckaby, Watson, Michael S., Swoboda, Kathryn J., Anderson, Rebecca, Berry, Susan A., Bonhomme, Natasha, Brosco, Jeffrey P., Comeau, Anne M., Goldenberg, Aaron, Goldman, Edward, Therrell, Bradford, Levy-Fisch, Jill, Tarini, Beth, Wilfond, Benjamin
Publicado em 2014

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Por Wolf, Susan M., Branum, Rebecca, Koenig, Barbara A., Petersen, Gloria M., Berry, Susan A., Beskow, Laura M., Daly, Mary B., Fernandez, Conrad V., Green, Robert C., LeRoy, Bonnie S., Lindor, Noralane M., O'Rourke, P. Pearl, Breitkopf, Carmen Radecki, Rothstein, Mark A., Van Ness, Brian, Wilfond, Benjamin S.
Publicado no J Law Med Ethics (2015)

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

Por Hinton, Cynthia F., Homer, Charles J., Thompson, Alexis A., Williams, Andrea, Hassell, Kathryn L., Feuchtbaum, Lisa, Berry, Susan A., Comeau, Anne Marie, Therrell, Bradford L., Brower, Amy, Harris, Katharine B., Brown, Christine, Monaco, Jana, Ostrander, Robert J., Zuckerman, Alan E., Kaye, Celia, Dougherty, Denise, Greene, Carol, Green, Nancy S.
Publicado no Mol Genet Metab (2016)

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Por Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Publicado no Am J Hum Genet (2015)

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Por Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Publicado em 2011

Self-Reported Treatment-Associated Symptoms among Patients with Urea Cycle Disorders Participating in Glycerol Phenylbutyrate Clinical Trials

Por Nagamani, Sandesh C. S., Diaz, George A., Rhead, William, Berry, Susan A., Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, J. Lawrence, Wong, Derek, Coakley, Dion F., Scharschmidt, Bruce F., Dickinson, Klara, Marino, Miguel, Lee, Brendan H., Mokhtarani, Masoud
Publicado no Mol Genet Metab (2015)

AMMONIA CONTROL AND NEUROCOGNITIVE OUTCOME AMONG UREA CYCLE DISORDER PATIENTS TREATED WITH GLYCEROL PHENYLBUTYRATE

Por Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter-Konecki, Uta, Bartholomew, Dennis, Harding, Cary O., Cederbaum, Stephen, McCandless, Shawn E., Smith, Wendy, Vockley, Gerald, Bart, Stephen A., Korson, Mark S., Kronn, David, Zori, Roberto, Merritt, J. Lawrence, Sreenath-Nagamani, Sandesh, Mauney, Joseph, LeMons, Cynthia, Dickinson, Klara, Moors, Tristen L., Coakley, Dion F., Scharschmidt, Bruce F., Lee, Brendan
Publicado em 2013

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

Por Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, U., Feigenbaum, Annette, Berry, Susan A., Le Mons, C., Bartley, James A, Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J. Lawrence, Schulze, A., Vockley, Gerard., Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, D.A., Marino, M., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Publicado no Genet Med (2014)