Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example von Micke, Kestutis C., Elfman, Hannah M., Fantauzzo, Katherine A., McGrath, Patrick S., Clouthier, David E., McCandless, Shawn E., Larson, Austin, Putra, Manesha, Cuneo, Bettina F., Reynolds, Regina M., Zaretsky, Michael V.

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A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome) von Muenzer, Joseph, Gucsavas-Calikoglu, Muge, McCandless, Shawn E., Schuetz, Thomas J., Kimura, Alan

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Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study von Strong, Theresa V, Miller, Jennifer L, McCandless, Shawn E, Gevers, Evelien, Yanovski, Jack A, Matesevac, Lisa, Bohonowych, Jessica, Ballal, Shaila, Yen, Kristen, Hirano, Patricia, Cowen, Neil M, Bhatnagar, Anish

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Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry von Bohonowych, Jessica E., Vrana-Diaz, Caroline J., Miller, Jennifer L., McCandless, Shawn E., Strong, Theresa

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Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia von McCandless, Shawn E

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A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis von Hannah, William B., Nizialek, Gregory, Dempsey, Katherine J., Armitage, Keith B., McCandless, Shawn E., Konczal, Laura L.

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Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening von Tim-Aroon, Thipwimol, MD, Harmon, Heidi M., MD, Nock, Mary L., MD, Viswanathan, Sreekanth K., MD, McCandless, Shawn E., MD

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Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate von Smith, Wendy, MD, Diaz, George A., MD, PhD, Lichter-Konecki, Uta, MD, PhD, Berry, Susan A., MD, Harding, Cary O., MD, McCandless, Shawn E., MD, LeMons, Cindy, Mauney, Joe, MS, Dickinson, Klara, BS, Coakley, Dion F., PharmD, Moors, Tristen, MS, Mokhtarani, Masoud, MD, Scharschmidt, Bruce F., MD, Lee, Brendan, MD, PhD

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The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics von Bohonowych, Jessica, Miller, Jennifer, McCandless, Shawn E, Strong, Theresa V

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium von Seminara, Jennifer, Tuchman, Mendel, Krivitzky, Lauren, Krischer, Jeffrey, Lee, Hye-Seung, LeMons, Cynthia, Baumgartner, Matthias, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Kerr, Douglas S., Lanpher, Brendan, Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Merritt, J. Lawrence, Oster-Granite, Mary Lou, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall, Waisbren, Susan, Yudkoff, Marc, Batshaw, Mark L.

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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant von Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.

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Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria von Grant, Mitzie L., Jurecki, Elaina R., McCandless, Shawn E., Stahl, Stephen M., Bilder, Deborah A., Sanchez-Valle, Amarilis, Dimmock, David

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Clinical Report-Health Supervision for Children With Prader-Willi Syndrome von MCCANDLESS, Shawn E

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Mandatory newborn screening in the United States: History, current status, and existential challenges von McCandless, Shawn E., Wright, Erica J.

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Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial von McCandless, Shawn E., Yanovski, Jack A., Miller, Jennifer, Fu, Cary, Bird, Lynne M., Salehi, Parisa, Chan, Christine L., Stafford, Diane, Abuzzahab, M. Jennifer, Viskochil, David, Barlow, Sarah E., Angulo, Moris, Myers, Susan E., Whitman, Barbara Y., Styne, Dennis, Roof, Elizabeth, Dykens, Elisabeth M., Scheimann, Ann O., Malloy, Jaret, Zhuang, Dongliang, Taylor, Kristin, Hughes, Thomas E., Kim, Dennis D., Butler, Merlin G.

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The Perils of SNP Microarray Testing: Uncovering Unexpected Consanguinity von Tarini, Beth A., MD, Konczal, Laura L., MD, Goldenberg, Aaron J., PhD, MPH, Goldman, Edward B., JD, McCandless, Shawn E., MD

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders von Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar

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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial von Roof, Elizabeth, Deal, Cheri L, McCandless, Shawn E, Cowan, Ronald L, Miller, Jennifer L, Hamilton, Jill K, Roeder, Elizabeth R, McCormack, Shana E, Roshan Lal, Tamanna R, Abdul-Latif, Hussein D, Haqq, Andrea M, Obrynba, Kathryn S, Torchen, Laura C, Vidmar, Alaina P, Viskochil, David H, Chanoine, Jean-Pierre, Lam, Carol K L, Pierce, Melinda J, Williams, Laurel L, Bird, Lynne M, Butler, Merlin G, Jensen, Diane E, Myers, Susan E, Oatman, Oliver J, Baskaran, Charumathi, Chalmers, Laura J, Fu, Cary, Alos, Nathalie, McLean, Scott D, Shah, Ajay, Whitman, Barbara Y, Blumenstein, Brent A, Leonard, Sarah F, Ernest, Jessica P, Cormier, Joseph W, Cotter, Sara P, Ryman, Davis C

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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis von Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola

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Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency von Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.

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