Journal Articles
Marshall CR; Young EJ; Pani AM; Freckmann ML; Lacassie Y; Howald C; Fitzgerald KK; Peippo M; Morris CA; Shane K; Priolo M; Morimoto M; Kondo I; Manguoglu E; Berker-Karauzum S; Edery P; Hobart HH; Mervis CB; Zuffardi O; Reymond A; Kaplan P; Tassabehji M; Gregg RG; Scherer SW; Osborne LR. "Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.." American Journal Of Human Genetics. Vol. 83, no. 1. (July 2008.): 106
Coppinger J; McDonald-McGinn D; Zackai E; Shane K; Atkin JF; Asamoah A; Leland R; Weaver DD; Lansky-Shafer S; Schmidt K; Feldman H; Cohen W; Phalin J; Powell B; Ballif BC; Theisen A; Geiger E; Haldeman-Englert C; Shaikh TH; Saitta S; Bejjani BA; Shaffer LG. "Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.." Human Molecular Genetics. Vol. 18, no. 8. (April 2009.): 1377
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA 3rd; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG. "Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.." American Journal Of Human Genetics. Vol. 86, no. 3. (March 2010.): 454
A. Theisen, J.A. Rosenfeld, K.Shane, K.L. McBride, J.F. Atkin, C. Gaba, J. Hoo, T.W. Kurczynski, R.E. Schnur, L.B. Coffey, E.H. Zackai, L. Schimmenti, N. Friedman, M. Zabukovec, S. Ball, R. Pgon, A. Lucas, C.K. Brasington, J.E. Spence, S. Sparks, VB. Banks, W. Smith, T. Friedberg, P.R. Wyatt, M. Aust, R. Tervo, A. Crowley, D. Skidmore, A.N. Lamb, B. Ravnan, T. Sahoo, R. Schultz, B.S. Torchia, M. Sgro, D. Chitayat, L.G. Shaffer. "Refinement of the Regios for Split Hand/Foot Malforamtion5 on 2q31.1." Molecular Syndromology. (January 2011.): 262-271
Alyaqoub,Fadel; Pyatt,Robert,E; Bailes,Andrea; Brock,Amanda; Deeg,Carol; McKinney,Aimee; Astbury,Caroline; Reshmi,Shalini; Shane,Kate,P; Thrush,Devon,Lamb; Sommer,Annemarie; Gastier-Foster,Julie,M. "12q14 microdeletion associated with HMGA2 gene disruption and growth restriction." AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Vol. 158A, no. 11. (November 2012.): 2925-2930
Schneider K, McConkie-Rosell A, Shane Carson K, Fitzgerald Butt S:. "Perspectives in Genetic Counseling." Reflections on the Jane Engleberg Memorial Fellowship Full Member Award
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, Macdonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Haskins Olney A, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W.. "Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.." J Clin Endocrinol Metab