Peer-reviewed Articles:
1. 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 136A:214-217, 2005.
2. Quigley DI, Silus J, Kaiser-Rogers K, Rao KW, Calikoglu M, Gold S, and McCandless SE. A
Case Report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3.
Am J Med Genet 132A:101-105, 2005.
3. O’Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier
DM, Winter V, Gregersen N, Engel P, and Andresen BS. The Y42H mutation in mediumchain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS based
newborn screening, is temperature sensitive. In Press, Eur J Biochem, 271:4053-4063,
2004.
4. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease among
admissions to a children’s hospital. Am J Hum Genet, 74:121-127, 2004.
5. Mudd SH, Braverman N, Pomper M, Kamer T, Kronick J, Jayakar P, Gananta 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 79(1):6-16, 2003.
6. Koerbel DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS,
McDonald MT, Chaing S, Boney A, Moore E, and Frazier DM.
Evaluation of 3methylcrotonylCoA carboxylase deficiency detected by tandem mass spectrometry newborn
screening. J Inherit Metab Dis 26:25-35, 2003.
7. 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, and Gregersen N. The
spectrum of medium-chain acyl-CoA dehydrogenase (MCAD) mutations in newborns
identified by MS/MS based prospective newborn screening is different from that observed in
patients with clinical symptoms – identification and characterization of a new prevalent
mutation that results in mild MCAD deficiency. Am J Hum Genet 68(6):1408-18, 2001.
8. 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 101:203-208, 2001.
9. 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 70:66-73, 2000.
Book Chapters and Invited Reviews:
1. McCandless SE, “Prader-Willi syndrome: A Neonatology Success Story”, NeoReviews, in
press, 2005.
2. McCandless SE and Cassidy SB, “Non-traditional Inheritance”, in Principles of Molecular
Medicine, 2nd Ed. Runge MS and Patteson WC (Eds.), Humana Press, Totawa, NJ. In
press.
3. McCandless SE, “A Primer on Expanded Newborn Screening by Tandem Mass
Spectrometry”, in Primary Care: Clinics in Office Practice Vol 31 pp 583 - 604. Acheson L and
Weisner GL (Eds.), Elsevier, Philadephia, PA 2004.
4. Cassidy SB and McCandless SE, “Prader-Willi Syndrome”, in Management of Genetic
Syndromes. Cassidy SB and Allanson JE (Eds.), Wiley-Liss, New York. 2005.
5. McCandless SE and Cassidy SB, “Prader-Willi Syndrome”, in Inborn Errors of Development:
The Molecular Basis of Clinical Disorders of Morphogenesis. Epstein CJ, Erickson RP and
Wynshaw-Boris A (Eds.), Oxford University Press, New York. 2003.