Social behavior in RASopathies and idiopathic autism

por Foy, Allison M. H., Hudock, Rebekah L., Shanley, Ryan, Pierpont, Elizabeth I.
Publicado 2022

Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome

por Pierpont, Elizabeth I., Richmond, Erica Kesin, Abbeduto, Leonard, Kover, Sara T., Brown, W. Ted
Publicado 2011

Impact of pediatric hypophosphatasia on behavioral health and quality of life

por Pierpont, Elizabeth I., Simmons, Jill H., Spurlock, Katherine J., Shanley, Ryan, Sarafoglou, Kyriakie M.
Publicado 2021

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

por Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary Ella
Publicado 2018

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy

por Wiersma, Rebecca E, Gupta, Ashish O, Lund, Troy C, Sarafoglou, Kyriakie, Pierpont, Elizabeth I, Orchard, Paul J, Miller, Bradley S
Publicado 2022

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

por Orchard, Paul J., Markowski, Todd W., Higgins, LeeAnn, Raymond, Gerald V., Nascene, David R., Miller, Weston P., Pierpont, Elizabeth I., Lund, Troy C.
Publicado 2019

Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy

por Gupta, Ashish O., Nascene, David R., Shanley, Ryan, Kenney‐Jung, Daniel L., Eisengart, Julie B., Lund, Troy C., Orchard, Paul J., Pierpont, Elizabeth I.
Publicado 2021

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

por Pierpont, Elizabeth I., Hudock, Rebekah L., Foy, Allison M., Semrud-Clikeman, Margaret, Pierpont, Mary Ella, Berry, Susan A., Shanley, Ryan, Rubin, Nathan, Sommer, Katherine, Moertel, Christopher L.
Publicado 2018

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy

por Pierpont, Elizabeth I., McCoy, Erin, King, Kelly E., Ziegler, Rich S., Shanley, Ryan, Nascene, David, Raymond, Gerald V., Phelan, Rachel, Lund, Troy C., Orchard, Paul J., Miller, Weston P.
Publicado 2018

Neurocognitive benchmarks following transplant for emerging cerebral adrenoleukodystrophy

por Pierpont, Elizabeth I., Nascene, David R., Shanley, Ryan, Kenney-Jung, Daniel L., Ziegler, Richard S., Miller, Weston P., Gupta, Ashish O., Lund, Troy C., Orchard, Paul J., Eisengart, Julie B.
Publicado 2020

A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy

por Wiens, Katie, Berry, Susan A., Choi, Hyoung, Gaviglio, Amy, Gupta, Ashish, Hietala, Amy, Kenney‐Jung, Daniel, Lund, Troy, Miller, Weston, Pierpont, Elizabeth I., Raymond, Gerald, Winslow, Holly, Zierhut, Heather A., Orchard, Paul J.
Publicado 2019

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

por Eisengart, Julie B., Pierpont, Elizabeth I., Kaizer, Alexander M., Rudser, Kyle D., King, Kelly E., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Le, Steven Q., Miller, Weston P., Tolar, Jakub, Orchard, Paul J., Lund, Troy C.
Publicado 2019

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

por Kenney‐Jung, Daniel L., Rogers, Dante J., Kroening, Samuel J., Zatkalik, Abigail L., Whitmarsh, Ashley E., Roberts, Amy E., Zenker, Martin, Gambardella, Maria Luigia, Contaldo, Ilaria, Leoni, Chiara, Onesimo, Roberta, Zampino, Giuseppe, Tartaglia, Marco, Battaglia, Domenica I., Pierpont, Elizabeth I.
Publicado 2022

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

por Kontaridis, Maria I., Roberts, Amy E., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E., Bakker, Annette, Bennett, Anton M., Broniscer, Alberto, Castel, Pau, Chang, Caitlin A., Cyganek, Lukas, Das, Tirtha K., den Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D., Gordon, Kristiana, Green, Tamar, Gripp, Karen W., Itkin, Maxim, Kiuru, Maija, Korf, Bruce R., Livingstone, Jeff R., López‐Juárez, Alejandro, Magoulas, Pilar L., Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I., Plouffe, Kevin, Rauen, Katherine A., Shankar, Suma P., Smith, Shane B., Stevenson, David A., Tartaglia, Marco, Van, Richard, Wagner, Morgan E., Ware, Stephanie M., Zenker, Martin
Publicado 2022