The Manton Center for Orphan Disease Research
September 2010 - December 2010
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.?
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.
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.
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. email@example.com.
Comprehensive methylome map of lineage commitment from haematopoietic progenitors.?
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.?
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.
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.
Ooi SK, Wolf D, Hartung O, Agarwal S, Daley GQ, Goff SP, Bestor TH.
Department of Genetics and Development, Columbia University, New York, USA. firstname.lastname@example.org.
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies.
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.
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.
Demer JL, Clark RA, Tischfield MA, Engle EC.
Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095-7002, USA. email@example.com.
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
Walsh CA, Engle EC.
Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. firstname.lastname@example.org.
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. email@example.com.
Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome.
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.
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.
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.
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.
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.
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.