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Brendan Lee Lab

2013-2015

Master
Content

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.