Journal Articles
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Owen, J.P., Li, Y.O., Ziv, E., Strominger, Z., Gold, J., Bukshpun, P., Wakahiro, M., Friedman, E.J., Sherr, E.H., Mukherjee P., The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage, 2013. 70:340-55.
Hasson, T., J.F. Skowron, D.J. Gilbert, K.B. Avraham, W.L. Perry, W.M. Bement, B.L. Anderson, E.H. Sherr, Z.Y. Chen, L.A. Greene, D.C. Ward, D.P. Corey, M.S. Mooseker, N.G. Copeland, and N.A. Jenkins, Mapping of unconventional myosins in mouse and human. Genomics, 1996. 36(3): p. 431-9.
Misawa, H., E.H. Sherr, D.J. Lee, D.M., Chetkovich, A. Tan, C.E. Schreiner, and D.S. Bredt, Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. J Neurosci, 2002. 22(23): p. 10088-93.
Sheen, V.L., J.W. Wheless, A. Bodell, E. Braverman, P.D. Cotter, K.A. Rauen, O. Glenn, K. Weisiger, S. Packman, C.A. Walsh, and E.H. Sherr, Periventricular heterotopia associated with chromosome 5p anomalies. Neurology, 2003. 60(6): p. 1033-6.
Sherr, E.H., The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr, 2003. 15(6): p. 567-71.
Takanashi, J., A.J. Barkovich, W.P. Dillon, E.H. Sherr, K.A. Hart, and S. Packman, T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol, 2003. 24(5): p. 916-21.
Klein, O.D., K. Backstrand, P.D. Cotter, E. Marco, E. Sherr, and A. Slavotinek, Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol, 2005. 14(2): p. 93-6.
Sherr, E.H., R. Owen, D.G. Albertson, D. Pinkel, P.D. Cotter, A.M. Slavotinek, S.W. Hetts, R.J. Jeremy, G. Schilmoeller, K. Schilmoeller, M. Wakahiro, and A.J. Barkovich, Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology, 2005. 65(9): p. 1496-8.
Slavotinek, A., J. Goldman, K. Weisiger, D. Kostiner, M. Golabi, S. Packman, W. Wilcox, H.E. Hoyme, and E. Sherr, Marinesco-Sjogren syndrome in a male with mild dysmorphism. Am J Med Genet A, 2005. 133(2): p. 197-201.
Hetts, S.W., E.H. Sherr, S. Chao, S. Gobuty, and A.J. Barkovich, Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol, 2006. 187(5): p. 1343-8.
Sherr, E.H., H. Misawa, G.A. Yudowski, S. Sen, C. Tsang, D.J. Lee, M. Mehrizi, and D.S. Bredt, Mutation of a PDZ domain protein causes a developmentally regulated epilepsy. PLoS Genetics, 2006. In revision.
Slavotinek, A., C. Li, E.H. Sherr, and A.E. Chudley, Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A, 2006. 140(18): p. 1909-14.
Boland, E., J. Clayton-Smith, S. McKee, L. Medne, E. Zackai, E. Swanson, K.J. Millen, E.H. Sherr, W.B. Dobyns, and G.C.M. Black, Deletion and translocation breakpoint mapping in 1q44 implicates disruption of the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics, 2007, 81(2): 292-303.
Lu, W., F. Quintero-Rivera, Y. Fan, F. Alkuraya, D.J. Donovan, Q. Xi, A. Turbe-Doan, Q.G. Li, C.G. Campbell, A.L. Shanske, E.H. Sherr, A. Ahmad, R. Peters, B. Rilliet, P. Parvex, A.G. Bassuk, D.J. Harris, H. Ferguson, C. Kelly, C.A. Walsh, R.M. Gronostajski, K. Devriendt, A. Higgins, A.H. Ligon, B.J. Quade, C.C. Morton, J.F. Gusella, and R.L. Maas, NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genetics, 2007. 3(5): e80.
Paul, L.K., W.S. Brown, R. Adolphs, J.M. Tyszka, L.J. Richards, P. Mukherjee, and E.H. Sherr, Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci, 2007. 8(4): p. 287-99.
Brancati, F; Barrano, G; Silhavy, J; Marsh, S; Travaglini, L; Bielas, S; Amorini, M; Zablocka, D; Kayserili, H; Al-Gazali, L; Bertini, E; Boltshauser, E; D’Hooghe, M; Fazzi, E; Fenerci, E; Hennekam,R; Kiss, A; Lees, A; Marco, E; Phadke, S; Rigoli, L; Romano, S; Salpietro,C; Sherr, E; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, D; Yuksel, A; Dallapiccola, B; The International JSRD Study Group, Valente, E; and Gleeson, J.CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders; American Journal of Human Genetics, 2007, 81(1): 104-113.
Li, J., Shivakumar, S., Wakahiro, M, Mukherjee, P., Barkovich, A.J., Slavotinek, A. and E. H. Sherr. Agenesis of the Corpus Callosum, Optic Coloboma, Intractable Seizures, Craniofacial and Skeletal Dysmorphisms: an autosomal recessive disorder similar to Temtamy Syndrome.American Journal of Medical Genetics, 2007, 143(16): 1900-1905.
Marco, E., F.E. Abidi, J. Bristow, W.B. Dean, P.D. Cotter, R.J. Jeremy, C.E. Schwartz, and E.H. Sherr, ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J Med Genet, 2007 Sept 24. (epub).
Maccotta, L. and E.H. Sherr. Hematopoeitic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2008 Jan 22 (epub).
Kara, S., Sherr, E.H. and A.J. Barkovich. Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A. Ped Neurol. 2008 May;38(5):363-6.
Glass, H. C., Shaw, G. M., Ma, C., and Sherr, E. H. (2008). Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A 146A, 2495-2500.
Mueller, S. and E.H. Sherr. The Importance of Metabolic Testing in the Evaluation of Intellectual Disability. Annals of Neurology. 2008 Aug;64(2):113-4.
Tang, P. H., Bartha, A. I., Norton, M. E., Barkovich, A. J., Sherr, E. H., and Glenn, O. A. (2009). Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol 30, 257-263.
Wahl, M., Strominger, Z., Jeremy, R. J., Barkovich, A. J., Wakahiro, M., Sherr, E. H., and Mukherjee, P. (2009). Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. AJNR Am J Neuroradiol 30, 282-289.
Sherr, E. H. (2009). Introduction. Semin Pediatr Neurol 16, 99-100.
Nakata, Y., Barkovich, A. J., Wahl, M., Strominger, Z., Jeremy, R. J., Wakahiro, M., Mukherjee, P., and Sherr, E. H. (2009). Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. AJNR Am J Neuroradiol 30, 1142-1148.
O'Driscoll, M., Black, G. C., Clayton-Smith, J.,Travaglini, L., Brancati, F., Attie-Bitach, T., Audollent, S., Bertini, E., Kaplan, J., Perrault, I., Iannicelli, M., Mancuso, B., Rigoli, L., et al. (2009). Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A 149A, 2173-2180
O'Driscoll, M.C., Black, G.M., Clayton_smith, J., Sherr, E. H., Dobyns, W. (2010). Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics. Sept;152A(p):2145-59.
Wahl, M., Strominger, Z., Wakahiro, M., Jeremy, R., Mukherjee, P., and Sherr, E. H. (2010). Diffusion Tensor Imaging of Aicardi Syndrome. Pediatric Neurology. August,43(2): 87-91.
Wahl, M., Li, Y., Ng, J., Lahue, S., Cooper, S., Sherr, E. H., and Mukherjee, P. (2010). Microstructural Correlations of White Matter Tracts in the Human Brain. Neuroimage. June;51(2):531-41. Epub 2010 Mar 4.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, et al. (2010). Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutations. May;31(5):E1319-31.
Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. (2011). Distinguishing 3 classes of corpus callosum abnormalities in consanguineous families. Neurology. Jan 25;76(4):373-82.
Book Chapters
Phelan, K., E.H. Sherr, J.M. Aletta, and L.A. Greene, Regulation of growth cone formation and function by neurotrophic factors, in The Nerve Growth Cone, S.B. Kater, P.C. Letourneau, and E.R. Macagno, Editors. 1990, Raven Press.
Sherr, E.H. and D.M. Ferriero, Mental Retardation, in Encyclopedia of the Neurological Sciences, M.J. Aminoff and R.B. Daroff, Editors. 2003, Elsevier Science Ltd: New York. p. 114-118.
Sherr, E.H. and M. Shevell, Mental Retardation and Global Developmental Delay, in Pediatric Neurology, Principles and Practice, K.F. Swaiman, S. Ashwal, and D.M. Ferriero, Editors. 2006, Mosby Elsevier: Philadelphia. p. 799-820.
Sherr, E.H. and G.M. Enns, Hypotonia, in Signs and Symptoms of Genetic Disease., G. Hoyme, L. Hudgins, and G.M. Enns, Editors. 2007, Elsevier: Philadelphia.
Sherr, E.H., Genetic Malformations of Cortical Development: An Update, in Clinical & Scientific Aspects of Neurodevelopmental Disabilities, M. Shevell, Editor. 2007, IRCN.
Jones-Davis, D., Lau, Y. and E.H. Sherr. Agenesis of the Corpus Callosum, inThe Causes of Epilepsy, S. Shorvon Editor, 2010, (Cambridge University Press).
Sherr, E.H. and M. Shevell, Mental Retardation and Global Developmental Delay, in Pediatric Neurology, Principles and Practice, K.F. Swaiman, S. Ashwal, and D.M. Ferriero, Editors. 2011, Mosby Elsevier: Philadelphia, in press.
Recent Abstracts (selected)
1. Enns, G.M., A. Plump, C.S. Hoyt, E. Sherr, V.A. Cox, and M. Golabi, Progressive encephalopathy-edema-hypsarrhythmia-optic atrophy (PEHO) syndrome. American Journal of Human Genetics, 1999. 65(4): p. A148-A148.
2. Kostiner, D., K. Peters, S. Das, L. Dudlicek, S. Ominsky, J. Barkovich, S. Chamlin, M. Williams, E. Sherr, N. Bass, K. Weisiger, and S. Packman, Menkes disease phenotypes in heterozygotes. Pediatric Research, 1999. 45(4): p. 139A-139A.
3. Sherr, E.H., P.D. Cotter, K.A. Rauen, O. Glenn, K. Weisiger, and S. Packman, Trisomy of 5pter as a novel cause of bilateral periventricular nodular heteropia and epilepsy: Implications for cortical development and clinical diagnostic evaluation. Annals of Neurology, 2002. 52(3): p. S149-S149.
4. Sherr, E. and P. Cotter, Non-syndromic mental retardation: Identification of candidate X-chromosome loci. American Journal of Human Genetics, 2003. 73(5): p. 280-280.
5. Sherr, E.H., A.J. Barkovich, S. Hetts, and S. Gobuty, Agenesis of the corpus callosum: Analysis of the phenotypic spectrum. Annals of Neurology, 2003. 54: p. S108-S109.
6. Slavotinek, A., E. Sherr, J. Goldman, K. Weisiger, W. Wilcox, D. Kostiner, M. Golabi, H.E. Hoyme, and S. Packman, Marinesco-Sjogren syndrome in a male. Journal of Investigative Medicine, 2003. 51: p. S119-S119.
7. Hetts, S.W., E.H. Sherr, S. Gobuty, S. Chao, and A.J. Barkovich, Anomalies of the corpus callosum: MR analaysis of the phenotypic spectrum. American Journal of Roentgenology, 2004. 182(4): p. 121-121.
8. Sherr, E.H., C. Tsang, and D.S. Bredt, Cloning a novel seizure gene implicates G-protein signaling. Annals of Neurology, 2004. 56: p. S84-S84.
9. Marco, E.J., G. Magrane, P.D. Cotter, J. Bristow, and E.H. Sherr, Identification of a novel x-linked mental retardation and behavior disorder gene. Annals of Neurology, 2005. 58: p. S102-S103.
10. Sherr, E., R. Owen, D. Pinkel, D. Albertson, P. Cotter, S. Hetts, J. Barkovich, A. Slavotinek, and M. Wakahiro, Genomic microarray analysis defines candidate chromosome intervals for cerebral malformations. Annals of Neurology, 2005. 58: p. S80-S80.
11. Sherr, E., A. Phillips, S. Gobuty, S. Chao, D. Glidden, A. Majnemer, S. Hetts, and A. Barkovich, MR findings predict clinical outcomes in agenesis of the corpus callosum. Annals of Neurology, 2006. 60: p. S157-S157.
12. Chung, S, Mukherjee, P., Henry, R.G., Berman, J.I., Hetts, S.W., Barkovich, A.J., and Sherr, E.H. Corticocortical connectivity of Probst bundle finders in callosal dysgenesis revealed by diffusion tensor imaging fiber tractography. ISMRM, 2006.
13. Li, J., Wahl, M., Woo, V., Mukherjee, P., Kronfeld, K., Wakahiro, M., Osbun, N., Jeremy, R., and Sherr, E.H. Agenesis of the corpus callosum in three generations. ASHG 2006
14. Li, J., Shivakumar, S., Wakahiro, M., Mukherjee, P., Slavotinek, A., and Sherr, E.H. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms. ASHG 2007
15. Wahl, M., Sherr, E.H., Barkovich, A.J., Hetts, S.W., Wakahiro, M., Mukherjee, P. White matter alterations in callosal agenesis: a diffusion tensor imaging study. ISMRM, 2008.
16. Wahl, M., Strominger, Z., Jeremy, R., Barkovich, J., Wakahiro, M., Sherr, E., and Mukherjee, P. (2008). Variation of homotopic and heterotopic callosal connectivity in partial callosal agenesis: A 3 tesla diffusion Imaging tractography study. Annals of Neurology 64, S101-S102.
17. Osbun, N. C., Sen, S., and Sherr, E. H. (2008). Gene mapping for agenesis of the corpus callosum in mice. Annals of Neurology 64, S112-S113.
18. Jones-Davis, D.M., Osbun, N., Rider, E., Li, J., Strominger, Z., Sen, S., Sherr, E.H. “Identification of a Locus Responsible for Agenesis of the Corpus Callosum and Autism in the BTBR Strain of Mice.” Annual Meeting of the Society for Neuroscience, Chicago, IL, 2009
19. J. Li, M. Lee, G. Da Gente, R. Yeh, E. H. Sherr. "Exon capture approaches for gene discovery in callosal agenesis". Annual Meeting of the Society for Neuroscience, Chicago, IL, 2009
20. E.H. Sherr, L.B.N. Hinkely, R.J. Rita, W.S. Brown, L.K. Paul, P. Mukherjee, M. Wakahiro, J.A. Barkovich, E.J. Marco, S.S. Nagarajan. (2010). Functional connectivity and executive function in agenesis of the corpus callosum. Annual Meeting of the Society for Neuroscience, San Diego, CA, 2010.
SCHOOL OF MEDICINE
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