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September 2010 - December 2010 The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010 Dec;31(12):1269-79. Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. Department of Medical Sciences, and IRCAD Università del Piemonte Orientale A. Avogadro, Alessandria, Novara, Vercelli, Italy. Current progress in the mammalian TRP ion channel family. Pharmacol Rev. 2010 Sep;62(3):381-404. Wu LJ, Sweet TB, Clapham DE. International Union of Basic and Clinical Pharmacology. LXXVI. Molecular basis of the first cell fate determination in mouse embryogenesis. Cell Res. 2010 Sep;20(9):982-93. Epub 2010 Jul 13. Chen L, Wang D, Wu Z, Ma L, Daley GQ. Ministry of Education Key Laboratory of Bioactive Materials, College of Life Sciences, Nankai University, 94 Weijin Road, Tianjin 300071, China. Comprehensive methylome map of lineage commitment from haematopoietic progenitors. Nature. 2010 Sep 16;467(7313):338-42. Epub 2010 Aug 15. Ji H, Ehrlich LI, Seita J, Murakami P, Doi A, Lindau P, Lee H, Aryee MJ, Irizarry RA, Kim K, Rossi DJ, Inlay MA, Serwold T, Karsunky H, Ho L, Daley GQ, Weissman IL, Feinberg AP. Center for Epigenetics and Department of Medicine, Johns Hopkins University School of Medicine, 570 Rangos, 725 N. Wolfe St., Baltimore, Maryland 21205, USA. Epigenetic memory in induced pluripotent stem cells. Nature. 2010 Sep 16;467(7313):285-90. Kim K, Doi A, Wen B, Ng K, Zhao R, Cahan P, Kim J, Aryee MJ, Ji H, Ehrlich LI, Yabuuchi A, Takeuchi A, Cunniff KC, Hongguang H, McKinney-Freeman S, Naveiras O, Yoon TJ, Irizarry RA, Jung N, Seita J, Hanna J, Murakami P, Jaenisch R, Weissleder R, Orkin SH, Weissman IL, Feinberg AP, Daley GQ. Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts 02115, USA. Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells. Nat Genet. 2010 Dec;42(12):1113-7. Epub 2010 Nov 7. Loewer S, Cabili MN, Guttman M, Loh YH, Thomas K, Park IH, Garber M, Curran M, Onder T, Agarwal S, Manos PD, Datta S, Lander ES, Schlaeger TM, Daley GQ, Rinn JL. Stem Cell Transplantation Program, Division of Pediatric Hematology and Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital and Dana Farber Cancer Institute, Boston, Massachusetts, USA. Dynamic instability of genomic methylation patterns in pluripotent stem cells. Epigenetics Chromatin. 2010 Sep 24;3(1):17. Ooi SK, Wolf D, Hartung O, Agarwal S, Daley GQ, Goff SP, Bestor TH. Department of Genetics and Development, Columbia University, New York, USA. Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol. 2010 Dec 23. [Epub ahead of print] Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD.  Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Talpiot Medical Leadership Program, Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel. Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell. 2010 Nov 5;7(5):618-30. Epub 2010 Sep 30. Warren L, Manos PD, Ahfeldt T, Loh YH, Li H, Lau F, Ebina W, Mandal PK, Smith ZD, Meissner A, Daley GQ, Brack AS, Collins JJ, Cowan C, Schlaeger TM, Rossi DJ. Immune Disease Institute, Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA 02115, USA. Magnetic resonance imaging evidence of an asymmetrical endophenotype in congenital fibrosis of the extraocular muscles type 3 resulting from TUBB3 mutations. IOVS. 2010 Sep;51(9):4600-11. Epub 2010 Apr 14. Demer JL, Clark RA, Tischfield MA, Engle EC. Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21;68(2):245-53. Walsh CA, Engle EC. Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).  Mol Vis. 2010 Oct 13;16:2062-70. Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K. Department of Ophthalmology, Medical College of Qingdao University, the Affiliated Hospital of Medical College Qingdao University, Qingdao, Shandong Province, China. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol.2010 Nov 11. [Epub ahead of print] Albert MH, Notarangelo LD, Ochs HD. aDepartment of Pediatric Hematology/Oncology, Dr von Haunersches Kinderspital der Ludwig-Maximilians-Universität, Munich, Germany bThe Manton Center for Orphan Disease Research and the Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA cDepartment of Pediatrics, University of Washington, and Seattle Children's Research Institute, Center for Immunity and Immunotherapy, Seattle, Washington, USA. SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. Am J Hum Genet. 2010 Nov 12;87(5):694-700. Epub 2010 Oct 28. Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A,     Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L. Tel Aviv University, Israel. Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A. 2010 Nov;152A(11):2736-42. Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA. Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010 Dec 10;87(6):882-9. Epub 2010 Nov 25. Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al- Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA. Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Department of Medicine, Boston Children's Hospital, MA 02115, USA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov;42(11):1015-20. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, BarryBJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Division of Genetics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct;31(8):649-57. Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians. Program in Genomics and Division of Genetics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA

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