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Shawn E. McCandless

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-2353

    Collapse Research 
    Collapse research activities and funding
    K08DK074573     (MCCANDLESS, SHAWN E)Sep 20, 2007 - Aug 31, 2012
    NIH
    Pathophysiology and Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. J Clin Endocrinol Metab. 2023 06 16; 108(7):1696-1708. PMID: 36633570.
      View in: PubMed
    2. Grant ML, Jurecki ER, McCandless SE, Stahl SM, Bilder DA, Sanchez-Valle A, Dimmock D. Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria. J Pediatr. 2023 09; 260:113526. PMID: 37263523.
      View in: PubMed
    3. Micke KC, Elfman HM, Fantauzzo KA, McGrath PS, Clouthier DE, McCandless SE, Larson A, Putra M, Cuneo BF, Reynolds RM, Zaretsky MV. Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example. Prenat Diagn. 2023 04; 43(4):544-552. PMID: 36759743.
      View in: PubMed
    4. Gr?nert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jim?nez MC, Gasperini S, Haas D, H?berle J, Halligan R, Fung LH, H?rbe-Blindt A, Horka LM, Huemer M, U?ar SK, Kecman B, Kilavuz S, Kriv?n G, Lindner M, L?sebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tan?ek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. Genet Med. 2022 08; 24(8):1781-1788. PMID: 35503103.
      View in: PubMed
    5. Matesevac L, Miller JL, McCandless SE, Malloy JL, Bohonowych JE, Vrana-Diaz C, Strong TV. Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome. J Clin Med. 2022 Apr 05; 11(7). PMID: 35407648.
      View in: PubMed
    6. Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 07; 6(1):104. PMID: 34876591.
      View in: PubMed
    7. Hannah WB, Nizialek G, Dempsey KJ, Armitage KB, McCandless SE, Konczal LL. A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis. Mol Genet Metab Rep. 2021 Dec; 29:100825. PMID: 34900596.
      View in: PubMed
    8. Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 03; 45(2):157-168. PMID: 34625984.
      View in: PubMed
    9. Bohonowych JE, Vrana-Diaz CJ, Miller JL, McCandless SE, Strong TV. Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry. BMC Ophthalmol. 2021 Aug 12; 21(1):296. PMID: 34380467.
      View in: PubMed
    10. Kripps KA, Baker PR, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 07; 133(3):231-241. PMID: 33985889.
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    11. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127. PMID: 33485801.
      View in: PubMed
    12. Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2?months of age with urea cycle disorders. Mol Genet Metab. 2021 01; 132(1):19-26. PMID: 33388234.
      View in: PubMed
    13. Hallgr?msson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693. PMID: 32475986.
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    14. McCandless SE, Wright EJ. Mandatory newborn screening in the United States: History, current status, and existential challenges. Birth Defects Res. 2020 03 01; 112(4):350-366. PMID: 32115905.
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    15. Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Rare SUZ12 variants commonly cause an overgrowth phenotype. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):532-547. PMID: 31736240.
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    16. Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK. Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant. Mol Genet Metab Rep. 2019 Dec; 21:100537. PMID: 31844627.
      View in: PubMed
    17. Bohonowych J, Miller J, McCandless SE, Strong TV. The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. Genes (Basel). 2019 09 14; 10(9). PMID: 31540108.
      View in: PubMed
    18. Sremba L, McCandless S, Baker P. Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al. J Inherit Metab Dis. 2020 03; 43(2):157-158. PMID: 31378948.
      View in: PubMed
    19. Berry SA, Coughlin CR, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet Med. 2020 01; 22(1):219-226. PMID: 31337884.
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    20. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345. PMID: 31326288.
      View in: PubMed
    21. Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, K?lker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 07; 86(1):116-128. PMID: 31018246.
      View in: PubMed
    22. Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, K?lker S, Burgard P. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2019 01; 42(1):93-106. PMID: 30740724.
      View in: PubMed
    23. McCandless SE. Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. Pediatrics. 2019 01; 143(1). PMID: 30593448.
      View in: PubMed
    24. Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20; 3(3-4):157-170. PMID: 30613471.
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    25. Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite ?, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet. 2018 12 06; 103(6):1038-1044. PMID: 30503519.
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    26. Tsai JH, Scheimann AO, McCandless SE, Strong TV, Bridges JFP. Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling. J Med Econ. 2018 Dec; 21(12):1230-1237. PMID: 30256699.
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    27. Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2?months to 2?years of age with urea cycle disorders. Mol Genet Metab. 2018 11; 125(3):251-257. PMID: 30217721.
      View in: PubMed
    28. Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas. Mol Genet Metab. 2018 04; 123(4):428-432. PMID: 29510902.
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    29. Schillaci LP, DeBrosse SD, McCandless SE. Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism. Pediatr Clin North Am. 2018 04; 65(2):209-230. PMID: 29502910.
      View in: PubMed
    30. Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. 2017 11; 122(3):61-66. PMID: 28918066.
      View in: PubMed
    31. Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J. Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years. Mol Genet Metab. 2017 11; 122(3):46-53. PMID: 28916119.
      View in: PubMed
    32. McCandless SE, Yanovski JA, Miller J, Fu C, Bird LM, Salehi P, Chan CL, Stafford D, Abuzzahab MJ, Viskochil D, Barlow SE, Angulo M, Myers SE, Whitman BY, Styne D, Roof E, Dykens EM, Scheimann AO, Malloy J, Zhuang D, Taylor K, Hughes TE, Kim DD, Butler MG. Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial. Diabetes Obes Metab. 2017 12; 19(12):1751-1761. PMID: 28556449.
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    33. Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Mol Genet Metab. 2016 09; 119(1-2):50-6. PMID: 27397597.
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    34. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. PMID: 26586473.
      View in: PubMed
    35. Mokhtarani M, Diaz GA, Lichter-Konecki U, Berry SA, Bartley J, McCandless SE, Smith W, Harding C, Le Mons C, Coakley DF, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate. Mol Genet Metab Rep. 2015 Dec; 5:12-14. PMID: 28649536.
      View in: PubMed
    36. Lisi EC, McCandless SE. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers. J Genet Couns. 2016 Apr; 25(2):373-84. PMID: 26315880.
      View in: PubMed
    37. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. PMID: 26296711.
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    38. Tim-Aroon T, Harmon HM, Nock ML, Viswanathan SK, McCandless SE. Stopping Parenteral Nutrition for 3 Hours Reduces False Positives in Newborn Screening. J Pediatr. 2015 Aug; 167(2):312-6. PMID: 26003996.
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    39. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. PMID: 25503497.
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    40. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Mol Genet Metab Rep. 2014; 1:362-367. PMID: 27896109.
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    41. Nardini MD, Matthews AL, McCandless SE, Baumanis L, Goldenberg AJ. Genomic counseling in the newborn period: experiences and views of genetic counselors. J Genet Couns. 2014 Aug; 23(4):506-15. PMID: 24659383.
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    42. Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May; 112(1):17-24. PMID: 24630270.
      View in: PubMed
    43. Fujioka H, Tandler B, Rosca M, McCandless SE, Katirji B, Cohen ML, Rapisuwon S, Hoppel CL. Multiple muscle cell alterations in a case of encephalomyopathy. Ultrastruct Pathol. 2014 Feb; 38(1):13-25. PMID: 24134831.
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    44. Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab. 2013 Dec; 110(4):446-53. PMID: 24144944.
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    45. Tarini BA, Konczal LL, Goldenberg AJ, Goldman EB, McCandless SE. The perils of SNP microarray testing: uncovering unexpected consanguinity. Pediatr Neurol. 2013 Jul; 49(1):50-3. PMID: 23827427.
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    46. Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr. 2013 Jun; 162(6):1228-34, 1234.e1. PMID: 23324524.
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    47. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. PMID: 22961727.
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    48. McCandless SE, Chandrasekar R, Linard S, Kikano S, Rice L. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency. Mol Genet Metab. 2013 Jan; 108(1):51-5. PMID: 23151387.
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    49. Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Design and implementation of the first randomized controlled trial of coenzyme CoQ10 in children with primary mitochondrial diseases. Mitochondrion. 2012 Nov; 12(6):623-9. PMID: 23022402.
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    50. McCandless SE, Powell KP, Sandberg U. Risk for ingestion of toxic substances in children with Prader-Willi syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2866-9. PMID: 22987600.
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    51. Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov; 107(3):308-14. PMID: 22958974.
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    52. Burrage LC, McConnell J, Haesler R, O'Riordan MA, Sutton VR, Kerr DS, McCandless SE. High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8. PMID: 22846370.
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    53. McCandless SE. Clinical report?health supervision for children with Prader-Willi syndrome. Pediatrics. 2011 Jan; 127(1):195-204. PMID: 21187304.
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    54. Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A. 2010 Dec; 152A(12):3148-53. PMID: 21108400.
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    55. Izumi K, Hokuto I, Yamaguchi S, Uezono A, Ikeda K, Rice L, McCandless SE, Craven DI. Diaphragm dysfunction with congenital cytomegalovirus infection. J Perinatol. 2010 Oct; 30(10):691-4. PMID: 20877363.
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    56. Slavin TP, McCandless SE, Lazebnik N. McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. J Clin Ultrasound. 2010 Mar-Apr; 38(3):151-5. PMID: 20091696.
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    57. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. PMID: 20188616.
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    58. Grant LW, McCandless SE, Traboulsi EI. Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child. J Pediatr Ophthalmol Strabismus. 2009 Oct 02. PMID: 19791709.
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    59. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tat? L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar; 11(3):210-9. PMID: 19287243.
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    60. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab. 2007 Mar; 90(3):329-37. PMID: 17185020.
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    61. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis. 2006 Feb; 29(1):76-85. PMID: 16601872.
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    62. Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA. Mosaicism for an FMR1 gene deletion in a fragile X female. Am J Med Genet A. 2005 Jul 15; 136(2):214-7. PMID: 15940701.
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    63. Quigley DI, Sailus J, Kaiser-Rogers K, Rao KW, Calikoglu M, Gold S, McCandless SE. A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3. Am J Med Genet A. 2005 Jan 01; 132A(1):101-5. PMID: 15580640.
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    64. O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem. 2004 Oct; 271(20):4053-63. PMID: 15479234.
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    65. McCandless SE. A primer on expanded newborn screening by tandem mass spectrometry. Prim Care. 2004 Sep; 31(3):583-604, ix-x. PMID: 15331249.
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    66. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet. 2004 Jan; 74(1):121-7. PMID: 14681831.
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    67. Harvey Mudd S, Braverman N, Pomper M, Tezcan K, Kronick J, Jayakar P, Garganta C, Ampola MG, Levy HL, McCandless SE, Wiltse H, Stabler SP, Allen RH, Wagner C, Borschel MW. Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. Mol Genet Metab. 2003 May; 79(1):6-16. PMID: 12765841.
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    68. Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003; 26(1):25-35. PMID: 12872837.
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    69. Holve S, Hu D, McCandless SE. Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. Am J Med Genet. 2001 Jul 01; 101(3):203-8. PMID: 11424134.
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    70. Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. 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: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001 Jun; 68(6):1408-18. PMID: 11349232.
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    71. Chadwick LH, McCandless SE, Silverman GL, Schwartz S, Westaway D, Nadeau JH. Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Genomics. 2000 Nov 15; 70(1):66-73. PMID: 11087663.
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    72. McCandless SE, Schwartz S, Morrison S, Garlapati K, Robin NH. Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. Am J Med Genet. 2000 Nov 13; 95(2):93-8. PMID: 11078556.
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    73. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD. Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet. 1999 Feb; 64(2):385-96. PMID: 9973277.
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    74. Ievers CE, Brown RT, McCandless SE, Devine DE. Case studies: psychological test findings for two children with X-linked adrenoleukodystrophy. J Dev Behav Pediatr. 1999 Feb; 20(1):31-5. PMID: 10071943.
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    75. McCandless SE, Robin NH. Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly. Am J Med Genet. 1998 Jul 07; 78(3):282-5. PMID: 9677067.
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    76. McCandless SE, Scott JA, Robin NH. Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders. Arch Pediatr Adolesc Med. 1998 May; 152(5):481-4. PMID: 9605032.
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    77. Robin NH, Abbadi N, McCandless SE, Nadeau JH. Disorganization in mice and humans and its relation to sporadic birth defects. Am J Med Genet. 1997 Dec 31; 73(4):425-36. PMID: 9415470.
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    78. McCandless SE, Uehling D, Friedman AL. Urinary tract malformations in identical twins. J Urol. 1991 Jul; 146(1):145-7. PMID: 2056575.
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