Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH. Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis. J Clin Invest. 2017 Jun 19. Pubmed PMID: 28628032
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 3;127(4):1475-1484. Pubmed PMID: 28263186
Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, Chen R, Donehower LA, Gannon F, Lee BH. Notch Activation as a Driver of Osteogenic Sarcoma. Cancer Cell. 2014 Sep 8;26(3):390-401. Pubmed PMID: 25203324
Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, Bächinger HP, Lee B. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun;20(6):670-5. Pubmed PMID: 24793237
Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B (2014). Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J. Clin. Invest. 124(2):491-8. PubMed PMID: 24463451
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O (2013). WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N. Engl. J. Med. 368(19): 1809-16.PubMed PMID: 23656646
Ruan MZ, Erez A, Guse K, Dawson B, Bertin T, Chen Y, Jiang MM, Yustein J, Gannon F, Lee BH (2013). Proteoglycan 4 expression protects against the development of osteoarthritis. Sci. Transl. Med. 5(176): 176ra34. PubMed PMID: 23486780
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B (2011). Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat. Med. 17(12): 1619-26. PubMed PMID: 22081021
Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B (2010). E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J. Clin. Invest. 120(7): 2474-85. PubMed PMID: 20530870
Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton R, Boyce BF, Lee B (2008). Dimorphic effects of Notch signaling in bone homeostasis. Nat. Med.14(3): 299-305. PubMed PMID: 18297084
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B (2006). Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc. Natl. Acad. Sci. U S A 103(50): 19004-9. PubMed PMID: 17142326
Morello R, Bertin T, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Schwarze U, Byers PH, Weis MA, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B (2006). CRTAP is required for 3-prolyl-hydroxylation and loss of its function causes recessive Osteogenesis Imperfecta. Cell 127(2): 291-304. PubMed PMID:17055431
Toietta G, Mane V, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B (2005). Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc. Natl. Acad. Sci. U S A 102(11): 3930-5. PubMed PMID:15753292
Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B (2001). Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat. Genet. 27(2): 205-8. PubMed PMID: 11175791
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P (2000). In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc. Natl. Acad. Sci. U S A 97(14): 8021-8026. PubMed PMID: 10869432
Pubmed
List of publications in Pubmed
Archive
Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers. Am J Clin Nutr. 2003 Oct;78(4):749-55. PubMed PMID: 14522733.
Zheng Q, Zhou G, Morello R, Chen Y, Garcia-Rojas X, Lee B. Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo. J Cell Biol. 2003 Sep 1;162(5):833-42. PubMed PMID: 12952936; PubMed Central PMCID: PMC2172833.
Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet. 2003 Oct;113(5):447-51. Epub 2003 Aug 21. PubMed PMID: 12938037.
Kleppe S, Mian A, Lee B. Urea Cycle Disorders. Curr Treat Options Neurol. 2003 Jul;5(4):309-319. PubMed PMID: 12791198.
Toietta G, Koehler DR, Finegold MJ, Lee B, Hu J, Beaudet AL. Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter. Mol Ther. 2003 May;7(5 Pt 1):649-58. PubMed PMID: 12718908.
Leroy JG, Claus L, Lee B, Mortier GR. Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):23-35. PubMed PMID: 12687887.
Zand DJ, Carpentieri D, Huff D, Medne L, Napierala D, Lee B, Zackai E. Crane-Heise syndrome: a second familial case report with elaboration of phenotype. Am J Med Genet A. 2003 Apr 30;118A(3):223-8. PubMed PMID: 12673651.
Mian A, Lee B. Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism. Trends Mol Med. 2002 Dec;8(12):583-9. Review. PubMed PMID: 12470992.
Heilstedt HA, Shahbazian MD, Lee B. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet. 2002 Aug 15;111(3):238-42. PubMed PMID: 12210319.
Hamano Y, Grunkemeyer JA, Sudhakar A, Zeisberg M, Cosgrove D, Morello R, Lee B, Sugimoto H, Kalluri R. Determinants of vascular permeability in the kidney glomerulus. J Biol Chem. 2002 Aug 23;277(34):31154-62. Epub 2002 May 30. PubMed
PMID: 12039968.
Morello R, Lee B. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res. 2002 May;51(5):551-8. Review. PubMed PMID: 11978876.
Miner JH, Morello R, Andrews KL, Li C, Antignac C, Shaw AS, Lee B. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest. 2002 Apr;109(8):1065-72. PubMed PMID: 11956244; PubMed Central PMID: PMC150942.
Toietta G, Pastore L, Cerullo V, Finegold M, Beaudet AL, Lee B. Generation of helper-dependent adenoviral vectors by homologous recombination. Mol Ther. 2002 Feb;5(2):204-10. PubMed PMID: 11829528.
Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics. 2002 Jan;109(1):150-2. PubMed PMID: 11773558.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28;355(26):2757-64. PubMed PMID: 17192541.
Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19004-9. Epub 2006 Dec 1. PubMed PMID: 17142326; PubMed Central PMCID: PMC1748167.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. PubMed PMID: 17055431.
McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb;90(2):217-20. Epub 2006 Sep 26. PubMed PMID: 17005426.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. PubMed PMID: 16838329.
Marini JC, Lee B, Garlick PJ. Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice. J Nutr. 2006 Jul;136(7):1834-8. PubMed PMID: 16772445.
Lanpher B, Brunetti-Pierri N, Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet. 2006 Jun;7(6):449-60. Review. PubMed PMID: 16708072.
Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. Review. PubMed PMID: 16602094.
Marini JC, Lee B, Garlick PJ. Reduced ornithine transcarbamylase activity does not impair ureagenesis in Otc(spf-ash) mice. J Nutr. 2006 Apr;136(4):1017-20. PubMed PMID: 16549467.
Marini JC, Lee B, Garlick PJ. In vivo urea kinetic studies in conscious mice. J Nutr. 2006 Jan;136(1):202-6. PubMed PMID: 16365083.
Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. Epub 2005 Oct 27. PubMed PMID: 16254002.
Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M. Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin. 2005 Oct;21(4 Suppl):S9-17. Review. PubMed PMID: 16227115.
Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML. Genetic counseling issues in urea cycle disorders. Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. Review. PubMed PMID: 16227114.
Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M. Nutritional management of urea cycle disorders. Crit Care Clin. 2005 Oct;21(4 Suppl):S27-35. Review. PubMed PMID: 16227113.
Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin. 2005 Oct;21(4 Suppl):S19-25. Review. PubMed PMID: 16227112.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. Review. PubMed PMID: 16227111.
Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol. 2005 Dec;24(8):530-8. Epub 2005 Sep 19. PubMed PMID: 16176871.
Brunetti-Pierri N, Lee B. Gene therapy for inborn errors of liver metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):13-24. Review. PubMed PMID: 16154372.
Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68. PubMed PMID: 16140555.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A. 2005 Sep 15;138(1):35-40. PubMed PMID: 16097009.
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug;77(2):305-12. Epub 2005 Jun 10. PubMed PMID: 15952089; PubMed Central PMCID: PMC1224532.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8. Epub 2005 May 27. PubMed PMID: 15924278; PubMed Central PMCID: PMC1226190.
Mohrmann G, Hengstler JG, Hofmann TG, Endele SU, Lee B, Stelzer C, Zabel B, Brieger J, Hasenclever D, Tanner B, Sagemueller J, Sehouli J, Will H, Winterpacht. SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer. Int J Cancer. 2005 Sep 10;116(4):547-54. PubMed PMID: 15825179.
Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B. Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):3930-5. Epub 2005 Mar 7. PubMed PMID: 15753292; PubMed Central PMCID: PMC554836.
Mian A, Guenther M, Finegold M, Ng P, Rodgers J, Lee B. Toxicity and adaptive immune response to intracellular transgenes delivered by helper-dependent vs. first generation adenoviral vectors. Mol Genet Metab. 2005 Mar;84(3):278-88. Epub 2004 Dec 29. PubMed PMID: 15694178.
McBride KL, Miller G, Carter S, Karpen S, Goss J, Lee B. Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. Pediatrics. 2004 Oct;114(4):e523-6. PubMed PMID: 15466081.
Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. Review. PubMed PMID: 15465784.
Mian A, McCormack WM Jr, Mane V, Kleppe S, Ng P, Finegold M, O'Brien WE, Rodgers JR, Beaudet AL, Lee B. Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther. 2004 Sep;10(3):492-9. PubMed PMID: 15336649.
Dreyer SD, Naruse T, Morello R, Zabel B, Winterpacht A, Johnson RL, Lee B, Oberg KC. Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets. Gene Expr Patterns. 2004 Jul;4(4):397-405. PubMed PMID: 15183306.
Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. Am J Med Genet A. 2004 Apr 30;126A(3):299-302. Review. PubMed PMID: 15054846.
Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. PubMed PMID: 15050979.
Pastore L, Belalcazar LM, Oka K, Cela R, Lee B, Chan L, Beaudet AL. Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. Gene. 2004 Mar 3;327(2):153-60. PubMed PMID: 14980712.
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.
Guse K, Suzuki M, Sule G, Bertin TK, Tyynismaa H, Ahola-Erkkilä S, Palmer D, Suomalainen A, Ng P, Cerullo V, Hemminki A, Lee B. Capsid-modified adenoviral vectors for improved muscle-directed gene therapy. Hum Gene Ther. 2012 Oct;23(10):1065-70. doi: 10.1089/hum.2012.003. Epub 2012 Aug 13. PubMed PMID: 22888960; PubMed Central PMCID: PMC3472516.
Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep;158A(9):2221-4. doi: 10.1002/ajmg.a.35540. Epub 2012 Aug 7. PubMed PMID: 22887731; PubMed Central PMCID: PMC3429634.
Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012 Nov 15;21(22):4904-9. doi: 10.1093/hmg/dds326. Epub 2012 Aug 8. PubMed PMID: 22875837; PubMed Central PMCID: PMC3607481.
Nagamani SC, Lee B, Erez A. Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Review. PubMed PMID: 22841516; PubMed Central PMCID: PMC3444682.
Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20. PubMed PMID: 22723016; PubMed Central PMCID: PMC3428158..
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review. PubMed PMID: 22715153; PubMed Central PMCID: PMC3696352.
Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. PubMed PMID: 22639458.
Gurha P, Abreu-Goodger C, Wang T, Ramirez MO, Drumond AL, van Dongen S, Chen Y, Bartonicek N, Enright AJ, Lee B, Kelm RJ Jr, Reddy AK, Taffet GE, Bradley A, Wehrens XH, Entman ML, Rodriguez A. Targeted deletion of microRNA-22 promotes stress-induced cardiac dilation and contractile dysfunction. Circulation. 2012 Jun 5;125(22):2751-61. doi: 10.1161/CIRCULATIONAHA.111.044354. Epub 2012 May 8. PubMed PMID: 22570371; PubMed Central PMCID: PMC3503489.
Choudhry KS, Grover M, Tran AA, O'Brian Smith E, Ellis KJ, Lee BH. Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAP Kinase pathway? Mol Genet Metab. 2012 Jun;106(2):237-40. doi: 10.1016/j.ymgme.2012.04.003. Epub 2012 Apr 11. PubMed PMID: 22551697; PubMed Central PMCID: PMC3356458.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. PubMed PMID: 22541557; PubMed Central PMCID: PMC3376491.
Napierala D, Sun Y, Maciejewska I, Bertin TK, Dawson B, D'Souza R, Qin C, Lee B. Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice. J Bone Miner Res. 2012 Aug;27(8):1735-45. doi: 10.1002/jbmr.1636. PubMed PMID: 22508542; PubMed Central PMCID: PMC3399940.
Bae Y, Yang T, Zeng HC, Campeau PM, Chen Y, Bertin T, Dawson BC, Munivez E, Tao J, Lee BH. miRNA-34c regulates Notch signaling during bone development. Hum Mol Genet. 2012 Jul 1;21(13):2991-3000. doi: 10.1093/hmg/dds129. Epub 2012 Apr 12. PubMed PMID: 22498974; PubMed Central PMCID: PMC3373245.
Sule G, Suzuki M, Guse K, Cela R, Rodgers JR, Lee B. Cytokine-conditioned dendritic cells induce humoral tolerance to protein therapy in mice. Hum Gene Ther. 2012 Jul;23(7):769-80. doi: 10.1089/hum.2011.225. Epub 2012 May 11. PubMed PMID: 22468961; PubMed Central PMCID: PMC3404424.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. PubMed PMID: 22265014; PubMed Central PMCID: PMC3276659.
Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Review. PubMed PMID: 22241104; PubMed Central PMCID: PMC3709024.
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544. PubMed PMID: 22081021; PubMed Central PMCID: PMC3348956..
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. PubMed PMID: 21948486; PubMed Central PMCID: PMC3655525.
Li F, Lu Y, Ding M, Napierala D, Abbassi S, Chen Y, Duan X, Wang S, Lee B, Zheng Q. Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer. J Bone Miner Res. 2011 Dec;26(12):2899-910. doi: 10.1002/jbmr.504. PubMed PMID: 21887706; PubMed Central PMCID: PMC3222790.
Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. PubMed PMID: 21826736; PubMed Central PMCID: PMC3214246.
Lee B, Davidson BL. Gene therapy grows into young adulthood: special review issue. Hum Mol Genet. 2011 Apr 15;20(R1):R1. doi: 10.1093/hmg/ddr188. PubMed PMID: 21571785.
Suzuki M, Cela R, Bertin TK, Sule G, Cerullo V, Rodgers JR, Lee B. NOD2 signaling contributes to the innate immune response against helper-dependent adenovirus vectors independently of MyD88 in vivo. Hum Gene Ther. 2011 Sep;22(9):1071-82. doi: 10.1089/hum.2011.002. Epub 2011 Jul 8. PubMed PMID: 21561248; PubMed Central PMCID: PMC3177951.
Marini JC, Lanpher BC, Scaglia F, O'Brien WE, Sun Q, Garlick PJ, Jahoor F, Lee B. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun;93(6):1248-54. doi: 10.3945/ajcn.110.009043. Epub 2011 Apr 13. PubMed PMID: 21490144; PubMed Central PMCID: PMC3095500.
Martino AT, Suzuki M, Markusic DM, Zolotukhin I, Ryals RC, Moghimi B, Ertl HC, Muruve DA, Lee B, Herzog RW. The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver. Blood. 2011 Jun 16;117(24):6459-68. doi: 10.1182/blood-2010-10-314518. Epub 2011 Apr 7. PubMed PMID: 21474674; PubMed Central PMCID: PMC3123017.
Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005. Review. PubMed PMID: 21473982; PubMed Central PMCID: PMC3071916.
Tao J, Erez A, Lee B. One NOTCH Further: Jagged 1 in Bone Metastasis. Cancer Cell. 2011 Feb 15;19(2):159-61. doi: 10.1016/j.ccr.2011.01.043. PubMed PMID: 21316596.
Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med
Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Review. PubMed PMID: 21312326; PubMed Central PMCID: PMC3073162.
Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B. Interaction of TGFβ and BMP signaling pathways during chondrogenesis. PLoS One. 2011 Jan 28;6(1):e16421. doi: 10.1371/journal.pone.0016421. PubMed PMID: 21297990; PubMed Central PMCID: PMC3030581.
Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. 2011 Feb 03 [updated 2012 Feb 02]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK51784/ PubMed PMID: 21290785.
van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr;19(4):400-8. doi: 10.1038/ejhg.2010.211. Epub 2011 Jan 19. PubMed PMID: 21248748; PubMed Central PMCID: PMC3060324.
Hu C, Cela RG, Suzuki M, Lee B, Lipshutz GS. Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2082-7. doi: 10.1073/pnas.1015571108. Epub 2011 Jan 18. PubMed PMID: 21245323; PubMed Central PMCID: PMC3033287.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23. PubMed PMID: 21098507; PubMed Central PMCID: PMC3024040.
Marini JC, Keller B, Didelija IC, Castillo L, Lee B. Enteral arginase II provides ornithine for citrulline synthesis. Am J Physiol Endocrinol Metab. 2011 Jan;300(1):E188-94. doi: 10.1152/ajpendo.00413.2010. Epub 2010 Oct 26. PubMed PMID: 20978229; PubMed Central PMCID: PMC3023202.
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. PubMed PMID: 20839288; PubMed Central PMCID: PMC3179293.
Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010;11:189-217. doi: 10.1146/annurev-genom-082908-150158. Review. PubMed PMID: 20690819.
Marini JC, Didelija IC, Castillo L, Lee B. Plasma arginine and ornithine are the main citrulline precursors in mice infused with arginine-free diets. J Nutr. 2010 Aug;140(8):1432-7. doi: 10.3945/jn.110.125377. Epub 2010 Jun 23. PubMed PMID: 20573946; PubMed Central PMCID: PMC2903302.
Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B. E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J Clin Invest. 2010 Jul;120(7):2474-85. doi: 10.1172/JCI42150. Epub 2010 Jun 7. PubMed PMID: 20530870; PubMed Central PMCID: PMC2898604.
Tao J, Chen S, Yang T, Dawson B, Munivez E, Bertin T, Lee B. Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. J Bone Miner Res. A soft kinetic data structure for lesion border detection 2010 Oct;25(10):2175-83. doi: 10.1002/jbmr.115. PubMed PMID: 20499347; PubMed Central PMCID: PMC3126919.
Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010 May 11;5(5):e10560. doi: 10.1371/journal.pone.0010560. PubMed PMID: 20485499; PubMed Central PMCID: PMC2868021.
Marini JC, Didelija IC, Castillo L, Lee B. Glutamine: precursor or nitrogen donor for citrulline synthesis? Am J Physiol Endocrinol Metab. 2010 Jul;299(1):E69-79. doi: 10.1152/ajpendo.00080.2010. Epub 2010 Apr 20. PubMed PMID: 20407005; PubMed Central PMCID: PMC2904050.
Tao J, Chen S, Lee B. Alteration of Notch signaling in skeletal development and disease. Ann N Y Acad Sci. 2010 Mar;1192:257-68. doi:
10.1111/j.1749-6632.2009.05307.x. Review. PubMed PMID: 20392245; PubMed Central PMCID: PMC2952341.
Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab. 2010 Jul;100(3):221-8. doi: 10.1016/j.ymgme.2010.03.014. Epub 2010 Mar 23. PubMed PMID: 20382058; PubMed Central PMCID: PMC2905228.
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010
Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3. PubMed PMID: 20362275; PubMed Central PMCID: PMC2850430.
Mendoza-Londono R, Lee B. Cleidocranial Dysplasia. 2006 Jan 03 [updated 2013 Aug 29]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK1513/PubMed PMID: 20301686.
Campeau PM, Pivalizza PJ, Miller G, McBride K, Karpen S, Goss J, Lee BH. Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study. Mol Genet Metab. 2010;100 Suppl 1:S84-7. doi: 10.1016/j.ymgme.2010.02.012. Epub 2010 Feb 19. PubMed PMID: 20223690; PubMed Central PMCID: PMC2867349.
Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010;100 Suppl 1:S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Review. PubMed PMID: 20188616;
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Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P. CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. Bone. 2010 Mar;46(3):820-6. doi: 10.1016/j.bone.2009.10.037. Epub 2009 Nov 4. PubMed PMID: 19895918; PubMed Central PMCID: PMC2825377.
Suzuki M, Cerullo V, Bertin TK, Cela R, Clarke C, Guenther M, Brunetti-Pierri N, Lee B. MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus. Hum Gene Ther. 2010 Mar;21(3):325-36. doi: 10.1089/hum.2009.155. PubMed PMID: 19824822; PubMed Central PMCID: PMC2865218.
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.
Suzuki M, Cela R, Clarke C, Bertin TK, Mouriño S, Lee B. Large-scale production of high-quality helper-dependent adenoviral vectors using adherent cells in cell factories. Hum Gene Ther. 2010 Jan;21(1):120-6. doi: 10.1089/hum.2009.096. PubMed PMID: 19719388; PubMed Central PMCID: PMC2829450.
Grafe I, Alexander S, Yang T, Lietman C, Homan EP, Munivez E, Chen Y, Jiang MM, Bertin T, Dawson B, Asuncion F, Ke HZ, Ominsky MS, Lee B. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap-/- Mice, a Model of Recessive Osteogenesis Imperfecta. J Bone Miner Res. 2015 Dec 30. PMID: 26716893
Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH. Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice. Mol Genet Metab. 2015 Dec 2. pii: S1096-7192(15)30085-8. PMID: 26693895
Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2015 Oct 1. PMID: 26426884
Ackerman KG, Lee B, Kushner JA. Dissatisfaction with maintenance of certification in academic pediatrics. Pediatr Res. 2015 Sep 30. PMID: 26421351
Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. Mol Genet Metab Rep. 2015 Sep 1;4:89-91. Pubmed PMID: 26366375
Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G; Members of the Urea Cycle Disorders Consortium, Lee BH. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15;24(22):6417-27. Pubmed PMID: 26358771
Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Lawrence Merritt J 2nd, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct;116(1-2):29-34. Pubmed PMID: 26296711
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 7;96(5):841-9. Pubmed PMID: 25957469
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet. 2015 May 7;96(5):816-25. Pubmed PMID: 25865493
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015 Jun;167(6):1309-14. Pubmed PMID: 25846959
Chen S, Grover M, Sibai T, Black J, Rianon N, Rajagopal A, Munivez E, Bertin T, Dawson B, Chen Y, Jiang MM, Lee B, Yang T, Bae Y. Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton. Mol Genet Metab. 2015 May;115(1):53-60. Pubmed PMID: 25779879
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr;167(4):831-6. Pubmed PMID: 25736269
Hudson DM, Joeng KS, Werther R, Rajagopal A, Weis M, Lee BH, Eyre DR. Post-translationally Abnormal Collagens of Prolyl 3-Hydroxylase-2 Null Mice Offer a Pathobiological Mechanism for the High Myopia Linked to Human LEPREL1 Mutations. J Biol Chem. 2015 Mar 27;290(13):8613-22. Pubmed PMID: 25645914
Rogers GL, Suzuki M, Zolotukhin I, Markusic DM, Morel LM, Lee B, Ertl HC, Herzog RW. Unique Roles of TLR9- and MyD88-Dependent and -Independent Pathways in Adaptive Immune Responses to AAV-Mediated Gene Transfer. J Innate Immun. 2015;7(3):302-14. Pubmed PMID: 25612611
Wang H, Yu C, Gao X, Welte T, Muscarella AM, Tian L, Zhao H, Zhao Z, Du S, Tao J, Lee B, Westbrook TF, Wong ST, Jin X, Rosen JM, Osborne CK, Zhang XH. The Osteogenic Niche Promotes Early-Stage Bone Colonization of Disseminated Breast Cancer Cells. Cancer Cell. 2015 Jan 14. pii: S1535-6108(14)00468-1. Pubmed PMID: 25600338
Lu L, Harutyunyan K, Jin W, Wu J, Yang T, Chen Y, Joeng KS, Bae Y, Tao J, Dawson BC, Jiang MM, Lee B, Wang LL. RECQL4 Regulates p53 Function in vivo During Skeletogenesis. J Bone Miner Res. 2015 Jun;30(6):1077-89. Pubmed PMID: 25556649
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, Scharschmidt BF. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2014 Dec 11. Pubmed PMID: 25503497
Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014;1:176-183.Pubmed PMID: 25419514
Lietman CD, Marom R, Munivez E, Bertin TK, Jiang MM, Chen Y, Dawson B, Weis M, Eyre D, Lee B. A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. J Bone Miner Res. 2015 Mar;30(3):489-98. Pubmed PMID: 25251575
Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, Chen R, Donehower LA, Gannon F, Lee BH. Notch Activation as a Driver of Osteogenic Sarcoma. Cancer Cell. 2014 Sep 8;26(3):390-401. Pubmed PMID: 25203324
Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. Pubmed PMID: 25169651
Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium. A longitudinal study of urea cycle disorders. Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. Pubmed PMID: 25135652
Kuzynski M, Goss M, Bottini M, Yadav MC, Mobley C, Winters T, Poliard A, Kellermann O, Lee B, Millan JL, Napierala D. Dual Role of the Trps1 Transcription Factor in Dentin Mineralization. J Biol Chem. 2014 Oct 3;289(40):27481-93. Pubmed PMID: 25128529
Lu JT, Campeau PM, Lee BH. Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing. N Engl J Med. 2014 Aug 14;371(7):593-6. Pubmed PMID: 25119605
Rajagopal A, Débora B, James TL, Soledad K, Florencia C, Hamilton C, David L, Jose Miguel L, Graciela V, Ignacio B, Richard G, Campeau P, Lee B. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov;99(11):E2451-6. Pubmed PMID: 25050900
Premkumar MH, Sule G, Nagamani SC, Chakkalakal S, Nordin A, Jain M, Ruan MZ, Bertin T, Dawson BC, Zhang J, Schady D, Bryan NS, Campeau PM, Erez A, Lee B. Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis. Am J Physiol Gastrointest Liver Physiol. 2014 Aug 1;307(3):G347-54. Pubmed PMID: 24904080
Tso SC, Gui WJ, Wu CY, Chuang JL, Qi X, Skvorak KJ, Dorko K, Wallace AL, Morlock LK, Lee BH, Hutson SM, Strom SC, Williams NS, Tambar UK, Wynn RM, Chuang DT. Benzothiophene Carboxylate Derivatives as Novel Allosteric Inhibitors of Branched-chain α-Ketoacid Dehydrogenase Kinase. J Biol Chem. 2014 Jul 25;289(30):20583-93. Pubmed PMID: 24895126
Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, Bächinger HP, Lee B. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014 Jun;20(6):670-5. Pubmed PMID: 24793237
Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Connective Tissue Alterations in Fkbp10-/- mice. Hum Mol Genet. 2014 Sep 15;23(18):4822-31. Pubmed PMID: 24777781
Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 2014;1:213-219. Pubmed PMID: 25019053
Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Smith T, Reid Sutton V. Cross-sectional Multicenter Study of Osteogenesis Imperfecta in North America - Results from the Linked Clinical Research Centers. Clin Genet. 2015 Feb;87(2):133-40. Pubmed PMID: 24754836
Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Sep 15;23(R1):R1-R8. Pubmed PMID: 24651065.
Weinstein MM, Tompson SW, Chen Y, Lee B, Cohn DH. Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders. J Bone Miner Res. 2014 Aug;29(8):1815-22. Pubmed PMID: 24644033.
Joeng KS, Lee YC, Jiang MM, Bertin TK, Chen Y, Abraham AM, Ding H, Bi X, Ambrose CG, Lee BH. The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations. Hum Mol Genet. 2014 Aug 1;23(15):4035-42. Pubmed PMID: 24634143.
Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 May;112(1):17-24. Pubmed PMID: 24630270.
Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH. Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues. PLoS Genet. 2014 Jan;10(1):e1004121. Epub 2014 Jan 23. Pubmed PMID: 24465224.
Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B (2014). Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J. Clin. Invest. 124(2):491-8. PubMed PMID: 24463451.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. Pubmed PMID: 24291220.
Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS Jr, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab. 2013 Dec;110(4):446-53. Pubmed PMID: 24144944
Sreeramkumar V, Leiva M, Stadtmann A, Pitaval C, Ortega-Rodríguez I, Wild MK, Lee B, Zarbock A, Hidalgo A. Coordinated and unique functions of the E-selectin ligand ESL-1 during inflammatory and hematopoietic recruitment in mice. Blood. 2013 Dec 5;122(24):3993-4001. Pubmed PMID: 24106206; PubMed Central PMCID: PMC3854116
Zhong L, Li S, Li M, Xie J, Zhang Y, Lee BH, Batshaw ML, Wilson JM, Gao G. Vector Sequences Are Not Detected in tumor tissue from research subjects with ornithine transcarbamylase deficiency who previously received adenovirus gene transfer. Hum Gene Ther. 2013 Aug 27. Pubmed PMID: 23980918.
Lai Y, Bai X, Zhao Y, Tian Q, Liu B, Lin EA, Chen Y, Lee B, Appleton CT, Beier F, Yu XP, Liu CJ. ADAMTS-7 forms a positive feedback loop with TNF-α in the pathogenesis of osteoarthritis. Ann Rheum Dis. 2014 Aug;73(8):1575-84. Pubmed PMID: 23928557
Ruan MZ, Patel RM, Dawson BC, Jiang MM, Lee BH. Pain, motor and gait assessment of murine osteoarthritis in a cruciate ligament transection model. Osteoarthritis Cartilage. 2013 Sep;21(9):1355-64. PubMed PMID: 23973150; PubMed Central PMCID: PMC3757305.
Chen S, Lee BH, Bae Y. Notch Signaling in Skeletal Stem Cells. Calcif Tissue Int. 2013 Aug 22. PubMed PMID: 23963632.
Cheung YH, Gayden T, Campeau PM, Leduc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. PubMed PMID: 23731537; PubMed Central PMCID: PMC3675240.
Tso SC, Qi X, Gui WJ, Chuang JL, Morlock LK, Wallace AL, Ahmed K, Laxman S, Campeau PM, Lee BH, Hutson SM, Tu BP, Williams NS, Tambar UK, Wynn RM, Chuang DT. Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9728-33. PubMed PMID: 23716694; PubMed Central PMCID: PMC3683707.
Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov;28(11):2333-7. PubMed PMID: 23674381; PubMed Central PMCID: PMC3800501.
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 9;368(19):1809-16. PubMed PMID: 23656646; PubMed Central PMCID: PMC3709450.
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 2;92(5):781-91. PubMed PMID: 23623387; PubMed Central PMCID: PMC3644641.
Yang T, Grafe I, Bae Y, Chen S, Chen Y, Bertin TK, Jiang MM, Ambrose CG, Lee B. E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment. Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7336-41. PubMed PMID: 23589896; PubMed Central PMCID: PMC3645519.
Ruan MZ, Erez A, Guse K, Dawson B, Bertin T, Chen Y, Jiang MM, Yustein J, Gannon F, Lee BH. Proteoglycan 4 expression protects against the development of osteoarthritis. Sci Transl Med. 2013 Mar 13;5(176):176ra34. PubMed PMID: 23486780; PubMed Central PMCID: PMC3804124.
Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013 Mar 6;5(175):175ra31. PubMed PMID: 23467562.
Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013;8(2):e57460. PubMed PMID: 23451234; PubMed Central PMCID: PMC3581587.
Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr;22(2):76-80. PubMed PMID: 23448908; PubMed Central PMCID: PMC3673284.
Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug;24(8):2253-9.PubMed PMID: 23443412; PubMed Central PMCID: PMC3709009.
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013 Jul;28(7):1523-30. PubMed PMID: 23408678; PubMed Central PMCID: PMC3688672.
Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr. 2013 Jun;162(6):1228-34, 1234.e1. PubMed PMID: 23324524.
Suzuki M, Bertin TK, Rogers GL, Cela RG, Zolotukhin I, Palmer DJ, Ng P, Herzog RW, Lee B. Differential type I interferon-dependent transgene silencing of helper-dependent adenoviral vs. adeno-associated viral vectors in vivo. Mol Ther. 2013 Apr;21(4):796-805. Epub 2013 Jan 15. PubMed PMID: 23319058; PubMed Central PMCID: PMC3616533.
Campeau PM, Lee BH. KAT6B-Related Disorders. 2012 Dec 13 [updated 2013 Jan 10]. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www.ncbi.nlm.nih.gov/books/NBK114806/PubMed PMID: 23236640.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 1;22(5):1026-38. Epub 2012 Dec 5. PubMed PMID: 23221805; PubMed Central PMCID: PMC3561915.
Ruan MZ, Dawson B, Jiang MM, Gannon F, Heggeness M, Lee BH. Quantitative imaging of murine osteoarthritic cartilage by phase-contrast micro-computed tomography. Arthritis Rheum. 2013 Feb;65(2):388-96. PubMed PMID: 23124630; PubMed Central PMCID: PMC3779602.
Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab. 2012 Nov;107(3):315-21. PubMed PMID: 23040521; PubMed Central PMCID: PMC3483446.
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan;34(1):97-102. Erratum in: Hum Mutat. 2013 Apr;34(4):667. PubMed PMID: 23033274.
Chen S, Tao J, Bae Y, Jiang MM, Bertin T, Chen Y, Yang T, Lee B. Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression of Sox9. J Bone Miner Res. 2013 Mar;28(3):649-59. PubMed PMID: 22991339; PubMed Central PMCID: PMC3548081.
Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov;158A(11):2917-24. Epub 2012 Sep 17. PubMed PMID: 22987818.
Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL 2nd, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun;57(6):2171-9. PubMed PMID: 22961727; PubMed Central PMCID: PMC3557606.
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab. 2012 Nov;107(3):308-14. PubMed PMID: 22958974; PubMed Central PMCID: PMC3608516.
Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet. 2018 Aug 2;103(2):276-287. PMID: 30075114
Stone AE, Grol MW, Ruan MZ, Dawson B, Chen Y, Jiang MM, Song IW, Jayaram P, Cela R, Gannon F, Lee BH. Combinatorial Prg4 and Il-1ra gene therapy protects against hyperalgesia and cartilage degeneration in post-traumatic osteoarthritis. Hum Gene Ther. 2018 Aug 2. PMID: 30070147
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 Aug 2;103(2):245-260. PMID: 30057031
Madan S, Kron B, Jin Z, Al Shamy G, Campeau PM, Sun Q, Chen S, Cherian L, Chen Y, Munivez E, Jiang MM, Robertson C, Goodman C, Ratan RR, Lee B. Arginase overexpression in neurons and its effect on traumatic brain injury. Mol Genet Metab. 2018 Jul 25. pii: S1096-7192(18)30279-8. PMID: 30055993
Nixon AJ, Grol MW, Lang HM, Ruan MZC, Stone A, Begum L, Chen Y, Dawson B, Gannon F, Plutizki S, Lee BHL, Guse K. Disease-modifying Osteoarthritis Treatment with Interleukin-1 Receptor Antagonist Gene Therapy in Small and Large Animal Models. Arthritis Rheumatol. 2018 Jul 25. PMID: 30044894
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2018 Jul 4. PMID: 29974348
Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR, Members of the Brittle Bone Disorders Consortium, Nagamani SCS. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2018 Jul 4. PMID: 29970925
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Members U, Shashi V, Pena LDM. Further Evidence for the Involvement of EFL1 in a Shwachman--Diamond-like Syndrome and Expansion of the Phenotypic Features. Cold Spring Harb Mol Case Stud. 2018 Jul 3. PMID: 29970384
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 Jul 5;103(1):154-162. PMID: 29961569
Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2018 Jun 15. PMID: 29907797
Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. PMID: 29805043
Ambrose CG, Soto Martinez M, Bi X, Deaver J, Kuzawa C, Schwartz L, Dawson B, Bachim A, Polak U, Lee B, Crowder C. Mechanical properties of infant bone. Bone. 2018 Aug;113:151-160. PMID: 29800692
Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med. 2018 May 14. PMID: 29760485
Grol MW, Lee BH. Gene therapy for repair and regeneration of bone and cartilage. Curr Opin Pharmacol. 2018 Jun;40:59-66. PMID: 29621661
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. PMID: 29478781
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 Feb 22. PMID: 29469822
Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 Jul;41(4):657-667. PMID: 29423830
Zheng H, Bae Y, Kasimir-Bauer S, Tang R, Chen J, Ren G, Yuan M, Esposito M, Li W, Wei Y, Shen M, Zhang L, Tupitsyn N, Pantel K, King C, Sun J, Moriguchi J, Jun HT, Coxon A, Lee B, Kang Y. Therapeutic Antibody Targeting Tumor- and Osteoblastic Niche-Derived Jagged1 Sensitizes Bone Metastasis to Chemotherapy. Cancer Cell. 2017 Dec 11;32(6):731-747.e6. doi: 10.1016/j.ccell.2017.11.002. PMID: 29232552
Lim J, Munivez E, Jiang MM, Song IW, Gannon F, Keene DR, Schweitzer R, Lee BH, Joeng KS. mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development. Sci Rep. 2017 Dec 7;7(1):17175. doi: 10.1038/s41598-017-17384-0. PMID: 29215029
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 2;101(5):815-823. PMID: 2910009
Rianon N, Ambrose CG, Pervin H, Garcia M, Mama SK, Schwartz AV, Lee B, Harris T. Long-term use of angiotensin-converting enzyme inhibitors protects against bone loss in African-American elderly men. Arch Osteoporos. 2017 Oct 28;12(1):94. PMID: 29080997
Nicol L, Wang Y, Smith R, Sloan J, Nagamani SC, Shapiro J, Lee B, Orwoll E. Serum Sclerostin Levels in Adults With Osteogenesis Imperfecta: Comparison With Normal Individuals and Response to Teriparatide Therapy. J Bone Miner Res. 2018 Feb;33(2):307-315. PMID: 29044725
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 4;171(12):e173438. PMID: 28973083
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members, Goldstein DB, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 Apr;20(4):464-469. PMID: 28914269
Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct;173(10):2789-2794. PMID: 28815944
Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 Aug 14;9(1):73. PMID: 28807008
Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF; Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul 24;13(7):e1006905. PMID: 28742085
Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 Sep;122(1-2):60-66. PMID: 28693988
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Jun 25. PMID: 28649782
Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH. Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis. J Clin Invest. 2017 Jun 30;127(7):2678-2688. PMID: 28628032
Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Mol Genet Metab Rep. 2017 Jun 7;12:57-61. PMID: 28626639
Grafe I, Alexander S, Peterson JR, Snider TN, Levi B, Lee B, Mishina Y. TGF-β Family Signaling in Mesenchymal Differentiation. Cold Spring Harb Perspect Biol. 2017 May 15. PMID: 28507020
Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SC, Wang LL. Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome. Hum Mol Genet. 2017 May 9. PMID: 28486640
Li J, Lu D, Liu H, Williams BO, Overbeek PA, Lee B, Zheng L, Yang T. Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling. Hum Mol Genet. 2017 May 9. PMID: 28486600
Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network., Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2017 Apr 17;12(1):71. PMID: 28416019
Zeng HC, Bae Y, Dawson BC, Chen Y, Bertin T, Munivez E, Campeau PM, Tao J, Chen R, Lee BH. MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts. Nat Commun. 2017 Apr 11. PMID: 28397831
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2). PMID: 28299356
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 3;127(4):1475-1484. PMID: 28263186
Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. 2017 Feb 15. pii: S8756-3282(17)30049-2. PMID: 28232077
Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH. Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. J Bone Miner Res. 2017 Jun;32(6):1354-1367. PMID: 28206698
Duran I, Martin JH, Weis MA, Krejci P, Konik P, Li B, Alanay Y, Lietman C, Lee B, Eyre D, Cohn DH, Krakow D. A Chaperone Complex Formed by HSP47, FKBP65 and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. J Bone Miner Res. 2017 Jun;32(6):1309-1319. PMID: 28177155
Hudson DM, Weis M, Rai J, Joeng KS, Dimori M, Lee BH, Morello R, Eyre DR. P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. J Biol Chem. 2017 Mar 3;292(9):3877-3887. PMID: 28115524
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN., Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 Dec 1;25(23):5286. PMID: 28031288
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 Apr;62(4):465-471. PMID: 28003643
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar;173(3):733-739. PMID: 27888646
Marom R, Lee YC, Grafe I, Lee B. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):367-383. PMID: 27813341
Yu C, Wang H, Muscarella A, Goldstein A, Zeng HC, Bae Y, Lee BH, Zhang XH. Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis. J Vis Exp. 2016 Sep 26;(115). PMID: 27768029
Bi X, Grafe I, Ding H, Flores R, Munivez E, Jiang MM, Dawson B, Lee B, Ambrose CG. Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment. J Bone Miner Res. 2017 Feb;32(2):347-359. PMID: 27649409
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network., Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. PMID: 27693232
Ruan MZ, Cerullo V, Cela R, Clarke C, Lundgren-Akerlund E, Barry MA, Lee BH. Treatment of osteoarthritis using a helper-dependent adenoviral vector retargeted to chondrocytes. Mol Ther Methods Clin Dev. 2016 Mar 9;3:16008. PMID: 27626040
Shchelochkov OA, Dickinson K, Scharschmidt BF, Lee B, Marino M, Le Mons C. Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives. Mol Genet Metab Rep. 2016 Jul 20;8:43-7. PMID: 27493880
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN., Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. PMID: 27378692
Hook D, Diaz GA, Lee B, Bartley J, Longo N, Berquist W, Le Mons C, Rudolph-Angelich I, Porter M, Scharschmidt BF, Mokhtarani M. Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate. Mol Genet Metab Rep. 2016 Jan 21;6:34-40. PMID: 27014577
Mouse embryonic stem cell-derived KO line
1. sFri 2-KO
2. Crtap-KO
3. Trps ∆GT
4. Asl-KO
5. Esl1-KO
6. Fkbp10-KO
7. Lepre1-KO
Transgenic mouse lines
1. 2.3kb-Col1a1-NOTCH-NICD-Tg
2. Col1a1-Trps1-Tg
3. Col2a1-ESL1-Tg
4. Ddrgk1-Tg
5. Prg4-Tg
6. Prx-Mia34b-Tg
7. Prx-Mia34C-TG
8. Col1a1-miR23a
9. Col1a1-miR23a decoy
10. Col1a1-miR24a
11. Col1a1-miR24 decoy
12. Col1a1-miR27a
13. Col1a1-miR27a decoy
14. Sox9N-Tg
15. Sox9C-Tg
16. Col2a1-∆TbR1-Tg
17. Col1a1-Fkpb10-Tg
18. Col2a1-Tbr1-Tg
