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Research Publications from 2012

Kennedy Krieger’s scientists and researchers are leaders in the worldwide effort to prevent and treat disorders of the brain, spinal cord, and musculoskeletal system. Learn about our innovative research initiatives and latest findings through our faculty research publications, Research Frontiers articles, and research press releases.

Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E. (Dec 2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum. 11(4), 1026-36. Abstract
Desale M, Worden LT, Cohen JS, Wilms Floet AM, Hoon AH Jr. (Dec 2012). Diagnostic evaluation in children with developmental delay: a cautionary tale for genetic testing. Clin Pediatr (Phila). 51(12), 1208-10. Abstract
Airan RD, Bar-Shir A, Liu G, Pelled G, McMahon MT, van Zijl PC, Bulte JW, Gilad AA. (Dec 2012). MRI biosensor for protein kinase A encoded by a single synthetic gene. Magn Reson Med. 68(6), 1919-23. Abstract
Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. (Dec 2012). A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat. 33(12), 1639-46. Abstract
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. (Dec 2012). Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 91(6), 998-1010. Abstract
Walhovd KB, Fjell AM, Brown TT, Kuperman JM, Chung Y, Hagler DJ Jr, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst TM, Frazier J, Gruen JR, Kaufmann WE, Murray SS, van Zijl P, Mostofsky S, Dale AM, Pediatric Imaging, Neurocognition, and Genetics Study. (Dec 2012). Long-term influence of normal variation in neonatal characteristics on human brain development. Proc Natl Acad Sci U S A. 109(49), 20089-94. Abstract
Chan KW, McMahon MT, Kato Y, Liu G, Bulte JW, Bhujwalla ZM, Artemov D, van Zijl PC. (Dec 2012). Natural D-glucose as a biodegradable MRI contrast agent for detecting cancer. Magn Reson Med. 68(6), 1764-73. Abstract
Fjell AM, Walhovd KB, Brown TT, Kuperman JM, Chung Y, Hagler DJ Jr, Venkatraman V, Roddey JC, Erhart M, McCabe C, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Darst BF, Schork NJ, Casey BJ, Chang L, Ernst TM, Gruen JR, Kaufmann WE, Kenet T, Frazier J, Murray SS, Sowell ER, van Zijl P, Mostofsky S, Jernigan TL, Dale AM, Pediatric Imaging, Neurocognition, and Genetics Study. (Nov 2012). Multimodal imaging of the self-regulating developing brain. Proc Natl Acad Sci U S A. 109(48), 19620-5. Abstract

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