Mao J, Yang T, Gu Z, Heird WC, Finegold MJ, Lee B, Wakil SJ. aP2-Cre-mediated inactivation of acetyl-CoA carboxylase 1 causes growth retardation and reduced lipid accumulation in adipose tissues. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17576-81. doi: 10.1073/pnas.0909055106. Epub 2009 Sep 24. PubMed PMID: 19805143; PubMed Central PMCID: PMC2762677.
Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? Mol Genet Metab. 2009 Sep-Oct;98(1-2):195-7. doi: 10.1016/j.ymgme.2009.06.006. Epub 2009 Jun 13. PubMed PMID: 19592285; PubMed Central PMCID: PMC2746757.
Engin F, Lee B. NOTCHing the bone: insights into multi-functionality. Bone. 2010 Feb;46(2):274-80. doi: 10.1016/j.bone.2009.05.027. Epub 2009 Jun 8. Review. PubMed PMID: 19520195; PubMed Central PMCID: PMC2835535.
Gau CL, Rosenblatt RA, Cerullo V, Lay FD, Dow AC, Livesay J, Brunetti-Pierri N, Lee B, Cederbaum SD, Grody WW, Lipshutz GS. Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector. Mol Ther. 2009 Jul;17(7):1155-63. doi: 10.1038/mt.2009.65. Epub 2009 Apr 14. PubMed PMID: 19367256; PubMed Central PMCID: PMC2835205.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. PubMed PMID: 19277063; PubMed Central PMCID: PMC2986596.
Engin F, Bertin T, Ma O, Jiang MM, Wang L, Sutton RE, Donehower LA, Lee B. Notch signaling contributes to the pathogenesis of human osteosarcomas. Hum Mol Genet. 2009 Apr 15;18(8):1464-70. doi: 10.1093/hmg/ddp057. Epub 2009 Feb 19. PubMed PMID: 19228774; PubMed Central PMCID: PMC2733809.
Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12. PubMed PMID: 19138872.
Zheng Q, Keller B, Zhou G, Napierala D, Chen Y, Zabel B, Parker AE, Lee B. Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo. J Bone Miner Res. 2009 Jun;24(6):1022-32. doi: 10.1359/jbmr.081249. PubMed PMID: 19113928; PubMed Central PMCID: PMC2683646.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. PubMed PMID: 19029900; PubMed Central PMCID: PMC2680128.
Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. PubMed PMID: 18662894; PubMed Central PMCID: PMC3724938.
Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 2008 Oct;97(10):1420-5. doi: 10.1111/j.1651-2227.2008.00952.x. Epub 2008 Jul 17. PubMed PMID: 18647279; PubMed Central PMCID: PMC2675643.
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008 Dec;29(12):1435-42. doi: 10.1002/humu.20799. PubMed PMID: 18566967; PubMed Central PMCID: PMC2671575.
Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors. J Gene Med. 2008 Aug;10(8):890-6. doi: 10.1002/jgm.1218. PubMed PMID: 18563850; PubMed Central PMCID: PMC2766563.
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17. PubMed PMID: 18562231; PubMed Central PMCID: PMC2640937.
Wang CE, Zhou H, McGuire JR, Cerullo V, Lee B, Li SH, Li XJ. Suppression of neuropil aggregates and neurological symptoms by an intracellular antibody implicates the cytoplasmic toxicity of mutant huntingtin. J Cell Biol. 2008 Jun 2;181(5):803-16. doi: 10.1083/jcb.200710158. Epub 2008 May 26. PubMed PMID: 18504298; PubMed Central PMCID: PMC2396813.
Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15;112(4):1042-7. doi: 10.1182/blood-2008-01-135970. Epub 2008 May 16. PubMed PMID: 18487507; PubMed Central PMCID: PMC2515126.
Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. PubMed PMID: 18446812; PubMed Central PMCID: PMC2677682.
Napierala D, Sam K, Morello R, Zheng Q, Munivez E, Shivdasani RA, Lee B. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome. Hum Mol Genet. 2008 Jul 15;17(14):2244-54. doi: 10.1093/hmg/ddn125. Epub 2008 Apr 17. PubMed PMID: 18424451; PubMed Central PMCID: PMC2710999.
Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 1;146A(9):1230-3. doi: 10.1002/ajmg.a.32303. PubMed PMID: 18386804; PubMed Central PMCID: PMC2637032.
Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton RE, Boyce BF, Lee B. Dimorphic effects of Notch signaling in bone homeostasis. Nat Med. 2008 Mar;14(3):299-305. doi: 10.1038/nm1712. Epub 2008 Feb 24. PubMed PMID: 18297084; PubMed Central PMCID: PMC2671578.
Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008 May;94(1):105-11. doi: 10.1016/j.ymgme.2007.12.004. Epub 2008 Mar 4. PubMed PMID: 18289904; PubMed Central PMCID: PMC2430595.
Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750. PubMed PMID: 18203189; PubMed Central PMCID: PMC2663417.
Seiler MP, Cerullo V, Lee B. Immune response to helper dependent adenoviral mediated liver gene therapy: challenges and prospects. Curr Gene Ther. 2007 Oct;7(5):297-305. Review. PubMed PMID: 17979676.
Marini JC, Erez A, Castillo L, Lee B. Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes. Am J Physiol Endocrinol Metab. 2007 Dec;293(6):E1764-71. Epub 2007 Oct 9. PubMed PMID: 17925451.
Cerullo V, Seiler MP, Mane V, Cela R, Clarke C, Kaufman RJ, Pipe SW, Lee B. Correction of murine hemophilia A and immunological differences of factor VIII variants delivered by helper-dependent adenoviral vectors. Mol Ther. 2007 Dec;15(12):2080-7. Epub 2007 Sep 11. PubMed PMID: 17848960.
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A. 2007 May 15;143A(10):1071-81. PubMed PMID: 17431898.
Holder AM, Graham BH, Lee B, Scott DA. Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. 2007 Nov 1;143A(21):2576-80. PubMed PMID: 17394214.
Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar;119(3):e773-7. PubMed PMID: 17332192.
Seiler MP, Gottschalk S, Cerullo V, Ratnayake M, Mane VP, Clarke C, Palmer DJ, Ng P, Rooney CM, Lee B. Dendritic cell function after gene transfer with adenovirus-calcium phosphate co-precipitates. Mol Ther. 2007 Feb;15(2):386-92. PubMed PMID: 17235318.
Cerullo V, Seiler MP, Mane V, Brunetti-Pierri N, Clarke C, Bertin TK, Rodgers JR, Lee B. Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors. Mol Ther. 2007 Feb;15(2):378-85. PubMed PMID: 17235317.
Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet. 2007 Feb 15;16(4):424-30. Epub 2007 Jan 8. PubMed PMID: 17210672.
