Methylmalonic and Propionic Acidemias: Clinical Management Update

per Fraser, Jamie L., Venditti, Charles P.
Publicat a Curr Opin Pediatr (2016)

Early developmental assessment with a short screening test, the STEP, predicts one-year outcomes

per Gower, Laurel, Jenkins, Dorothea, Fraser, Jamie L., Ramakrishnan, Viswanathan, Coker-Bolt, Patty
Publicat a J Perinatol (2018)

Transplantation of Hypoxia Preconditioned Bone Marrow Mesenchymal Stem Cells Enhances Angiogenesis and Neurogenesis after Cerebral Ischemia in Rats

per Wei, Ling, Fraser, Jamie L., Zhong-Yang, Lu, Hu, Xinyang, Yu, Shan Ping
Publicat 2012

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

per Shur, Natasha, Atabaki, Shireen M., Kisling, Monisha S., Tabarani, Abir, Williams, Clarence, Fraser, Jamie L., S. Regier, Debra, Summar, Marshall
Publicat a Am J Med Genet A (2020)

Sex-specific effects of N-Acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemia

per Nie, Xingju, Lowe, Danielle W, Rollins, Laura Grace, Bentzley, Jessica, Fraser, Jamie L, Martin, Renee, Singh, Inderjit, Jenkins, Dorothea
Publicat a Neurosci Res (2016)

Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention

per Lyon, Maureen E, Thompkins, Jessica D, Fratantoni, Karen, Fraser, Jamie L, Schellinger, Sandra E, Briggs, Linda, Friebert, Sarah, Aoun, Samar, Cheng, Yao Iris, Wang, Jichuan
Publicat a BMJ Support Palliat Care (2022)

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

per Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicat a Mol Genet Metab Rep (2014)

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

per Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.
Publicat a Ann Neurol (2020)

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

per Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐Vela, Marta, Escolar, Maria L., Fraser, Jamie L., Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder A., Kmiec, Tomasz, Lang, Anthony, Martí, Maria J., Mercimek‐Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez‐Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas‐Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas
Publicat a Mov Disord (2020)

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

per Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Publicat a Am J Med Genet A (2014)

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

per Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane
Publicat a Am J Hum Genet (2020)