Shawn McCandless, MD
Professor, Pediatrics-Clinical Genetics and Metabolism

Professional Titles

• Professor
• Section Head, Genetics and Metabolism
• Chair, Department of Genetics and Metabolism, Children's Hospital Colorado

Teaching

Publications

• Grünert 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-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink 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, Tanšek 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 Aug;24(8):1781-1788. PubMed PMID: 35503103
• Grünert 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-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink 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, Tanšek 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 Aug;24(8):1781-1788. PubMed PMID: 35503103
• 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 5;11(7). PubMed PMID: 35407648
• 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 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2022 Mar;45(2):157-168. PubMed PMID: 34625984
• 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. PubMed PMID: 34900596
• 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 7;6(1):104. PubMed PMID: 34876591
• 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 2nd. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. J Inherit Metab Dis. 2021 Oct 9. [Epub ahead of print] PubMed PMID: 34625984
• 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. PubMed PMID: 34380467
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, 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 Jul;133(3):231-241. PubMed PMID: 33985889
• 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 Feb;132(2):119-127. PubMed PMID: 33485801
• 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 Jan;132(1):19-26. PubMed PMID: 33388234
• Kripps KA, Wong DA, McCandless SE, “Urea Cycle Disorders”, in Liver Diseases in Children, 5th Ed. Suchy FJ, Sokol RJ, and Balistreri WF (Eds.), Cambridge University Press, Cambridge, UK. 2021.
• McCandless SE, “Laboratory Diagnosis of Inborn Errors of Metabolism”, in Liver Diseases in Children, 5th Ed. Suchy FJ, Sokol RJ, and Balistreri WF (Eds.), Cambridge University Press, Cambridge, UK. 2021.
• Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Ruiz SG, Garcia AC, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R, Members of the UCDC, Gazit E, Nagamani SCS, Erez A. ASL expression in ALDH1A1( ) neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype. Hum Genet. 2021 Oct;140(10):1471-1485. PubMed PMID: 34417872
• 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. 2020 Dec 23. [Epub ahead of print] PubMed PMID: 33388234
• Van Hove JLK, Thomas JA, McCandless SE, Woontner M, Coughlin C. In Memoriam. J Inherit Metab Dis. 2020 Dec 22. [Epub ahead of print] PubMed PMID: 33354834
• Hallgrímsson 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 Oct;22(10):1682-1693. PubMed PMID: 32475986
• McCandless SE, Wright EJ. Mandatory newborn screening in the United States: History, current status, and existential challenges. Birth Defects Res. 2020 Mar 1;112(4):350-366. PubMed PMID: 32115905
• Sremba L, McCandless S, Baker P 2nd. 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 Mar;43(2):157-158. PubMed PMID: 31378948
• Berry SA, Coughlin CR 2nd, 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 Jan;22(1):219-226. PubMed PMID: 31337884
• McCandless SE. Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. Pediatrics. 2019 Jan;143(1). PubMed PMID: 30593448
• 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. PubMed PMID: 31844627
• 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 Dec;181(4):532-547. PubMed PMID: 31736240
• Bohonowych J, Miller J, McCandless SE, Strong TV. The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. Genes (Basel). 2019 Sep 14;10(9). PubMed PMID: 31540108
• Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, 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 Aug;127(4):336-345. PubMed PMID: 31326288
• 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, Kölker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 Jul;86(1):116-128. PubMed PMID: 31018246
• 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, Kölker 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 Jan;42(1):93-106. PubMed PMID: 30740724
• McCandless SE. Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. Pediatrics. 2019 Jan;143(1). PubMed PMID: 30593448
• 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. PubMed PMID: 30613471
• 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. PubMed PMID: 30256699
• 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 Nov;125(3):251-257. PubMed PMID: 30217721
• 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 Apr;65(2):209-230. PubMed PMID: 29502910

Professional Memberships

• Society for Inherited Metabolic Disorders, Former President
• American College of Medical Genetics and Genomics, Member
• American Society for Human Genetics, Member