Genetic Rounds: A Doctor's Encounters in the Field that Revolutionized Medicine

di McCandless, Shawn E.
Pubblicazione 2009

The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital

di McCandless, Shawn E., Brunger, Jeanne W., Cassidy, Suzanne B.
Pubblicazione 2004

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

di Bohonowych, Jessica, Miller, Jennifer, McCandless, Shawn E., Strong, Theresa V.
Pubblicato in Genes (Basel) (2019)

Sequencing from Dried Blood Spots in Infants with “False Positive” Newborn Screen for MCAD Deficiency

di McCandless, Shawn E., Chandrasekar, Ram, Linard, Sharon, Kikano, Sandra, Rice, Lorrie
Pubblicazione 2012

Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

di Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.
Pubblicato in Mol Genet Metab (2017)

The Perils of SNP Microarray Testing: Uncovering Unexpected Consanguinity

di Tarini, Beth A., Konczal, Laura, Goldenberg, Aaron J., Goldman, Edward B., McCandless, Shawn E.
Pubblicazione 2013

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

di Berry, Susan A., Coughlin, Curtis R., McCandless, Shawn, McCarter, Robert, Seminara, Jennifer, Yudkoff, Mark, LeMons, Cynthia
Pubblicato in Genet Med (2019)

SUN-595 Comparative Comorbidity Burden Among Patients with Prader-Willi Syndrome: A Population-Level Cohort Study

di Stafford, Diane E J, Li, Justin W, Yin, David, Yeh, Michael M, Czado, Shawn, Aghsaei, Sina, Suh, Marissa, Francis, Kevin, McCandless, Shawn E
Pubblicato in J Endocr Soc (2020)

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

di Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.
Pubblicato in Mol Genet Metab Rep (2019)

SUN-604 U.S. Prevalence & Mortality of Prader-Willi Syndrome: A Population-Based Study of Medical Claims

di McCandless, Shawn E, Suh, Marissa, Yin, David, Yeh, Michael, Czado, Shawn, Aghsaei, Sina, Li, Justin W, Francis, Kevin, Hadker, Nandini, Stafford, Diane E J
Pubblicato in J Endocr Soc (2020)

Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q(10) in Children with Primary Mitochondrial Diseases

di Stacpoole, Peter W., deGrauw, Ton. J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.
Pubblicazione 2012

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

di Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin
Pubblicato in Mol Genet Metab Rep (2014)

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

di 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
Pubblicato in Mol Genet Metab (2014)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Iden...

di Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels
Pubblicazione 2001

Impact of diagnosis and therapy on cognitive function in urea cycle disorders

di 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
Pubblicato in Ann Neurol (2019)

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders – a successful strategy for clinical research of rare diseases

di Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter
Pubblicato in J Inherit Metab Dis (2019)

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Conso...

di Ah Mew, Nicholas, Cnaan, Avital, McCarter, Robert, Choi, Henry, Glass, Penny, Rice, Katie, Scavo, Louis, Gillespie, Catherine W., Diaz, George A., Berry, Gerard T., Wong, Derek, Konczal, Laura, McCandless, Shawn E., Coughlin II, Curtis R., Weisfeld-Adams, James D., Ficicioglu, Can, Yudkoff, Mark, Enns, Gregory M., Lichter-Konecki, Uta, Gallagher, Renata, Tuchman, Mendel
Pubblicato in Transl Sci Rare Dis (2018)

Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium

di 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.
Pubblicazione 2010

Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: a randomized, double-blind, placebo-controlled trial

di 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.
Pubblicato in Diabetes Obes Metab (2017)

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

di 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
Pubblicato in Mol Genet Metab (2015)