Publications

Seema Mital Publications

  1. Hsu DT, Zak V, Mahony L, Sleeper LA, Atz A, Levine JC, Barker PC, Ravishankar C, McCrindle BW, Williams RV, Altmann K, Ghanayem NS, Margossian R, Chung WK, Border WL, Pearson GD, Stylianou MP, Mital S. Enalapril in Infants with Single Ventricle: Results of a multicenter randomized trial. Circulation 2010 July 12 (Epub ahead of print)
  2. Stevens K, Hakonarson H, Kim C, Doevendans P, Mital S, Raue J, Glessner J, Coles J G, Moreno V, Granger A, Gruber S B, Gruber P J. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. PLoS One. 2010 May 26;5(5):e10855
  3. Ohye RG, Sleeper LA, Mahony L, Newburger JW, Pearson GD, Lu M, Goldberg CS, Tabbutt S, Frommelt PC, Ghanayem NS, Laussen PC, Rhodes JF, Lewis AB, Mital S, Ravishankar C, Williams IA, Dunbar-Masterson C, Atz AM, Colan S, Minich LL, Pizarro C, Kanter KR, Jaggers J, Jacobs JP, Dent CK, Pike N, McCrindle BW, Virzi L, Gaynor JW, for the Pediatric Heart Network Investigators. Outcomes of the Norwood Procedure in Infants randomized to a modified Blalock-Taussig versus right ventricle-to-pulmonary artery shunt. N Engl J Med. 2010 May 27;362(21):1980-1992
  4. Williams RV, Ravishankar C, Zak V, Evans F, Atz AM, Border WL, Levine J, Li JS, Mahony L, Mital S, Pearson GD, Prakash A, Hsu DT. Pediatric Heart Network Infant Single Ventricle Trial: Birth weight and prematurity in the screened population. Congenital Heart Disease 2010; 5: 96-103
  5. Sushma R, Osorio JC, Duque AM, Kaufman BD, Phillips AB, Chen JM, Quaegebeur J, Mosca RS, Mital S. Failure of Right Ventricular Adaptation In Children With Tetralogy Of Fallot. Circulation 2006; 114: I-37-42  
  6. Kaufman BD, Auerbach S, Reddy S, Manlhiot C, Deng L, Prakash A, Printz BF, Gruber D, Papavassiliou D, Hsu DT, Sehnert A, Chung WK, Mital S. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Human Genetics 2007; 122(5): 515-23.  
  7. Osorio JC, Cheema FH, Martens TP, Mahmut N, Kinnear C, Duque AM, Bonney W, Homma S, Liao JK, Mital S. Simvastatin reverses cardiac hypertrophy caused by disruption of the bradykinin 2 receptor. Canadian J of Physiol and Pharmacol 2008; 86(9): 633-42.  
  8. Kaufman BD, Desai M, Osorio JC, Mosca RS, Chen JM, Ferrante AW, Mital S. Genomic Profiling of Left and Right Ventricular Hypertrophy In Congenital Heart Disease. J Card Failure 2008; 14 (9): 760-7.
  9. Auerbach SA, Manlhiot C, Reddy S, Richmond ME, Gruber D, McCrindle BW, Deng L, Chen JM, Addonizio LJ, Chung WK, Mital S. Recipient Genotype is a Predictor of Outcomes after Pediatric Cardiac Transplantation. J Am Coll Cardiol 2009;53 1909-1917. 

Bernard Keavney Publications

  1. Keavney B, Parish S, Palmer A, Clark S, Youngman L, Danesh J, McKenzie C, Delepine M, Lathrop M, Peto R, Collins R. Large-scale evidence that the cardiotoxicity of smoking is not significantly modified by the apolipoprotein E epsilon2/epsilon3/epsilon4 genotype. Lancet 2003;361:396-398.
  2. Palomino-Doza J, Rahman TJ, Avery PJ, Mayosi BM, Farrall M, Watkins H, Edwards CR, Keavney B. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. Hypertension 2008;52,980-5.
  3. Thompson A, Di Antonio, E, Sarwar N, Erqou S, Saleheen D, Dullaart RPF, Keavney B, Ye Z, Danesh J. Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk. JAMA 2008;299:2777-2788.
  4. Bennet AM, Di Angelantonio E, Ye Z, Wensley F, Dahlin A, Ahlbom A, Keavney B, Collins R, Wiman B, de Faire U, Danesh J. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 2007;298:1300-1311.
  5. Collerton J, Martin-Ruiz C, Kenny A, Barrass K, von Zglinicki T, Kirkwood T, Keavney B. Telomere length is associated with left ventricular function in the oldest old: the Newcastle 85+ study. Eur Heart J 2007;28:172-176.  
  6. Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Riveron JG, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS One 2009;4,e4978.

Damien Bonnet Publications

  1. Khoshnood B, plus co-authors, Bonnet D. Trends in prenatal diagnosis, pregnancy termination and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based study. Pediatrics 2005; 115: 95-101.
  2. Ching YH, plus co-authors, Bonnet D. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37: 423-8.
  3. Bajolle F, plus co-authors, Bonnet D. Rotation of the Myocardial Wall of the Outflow Tract Is Implicated in the Normal Positioning of the Great Arteries. Circ Res 2006; 98: 421-8.
  4. Kaguelidou F, plus co-authors, Bonnet D. Foetal echocardiographic assessment of tetralogy of Fallot and post-natal outcome. Eur Heart J 2008; May 8 [Epub ahead of print].
  5. Le Goff C, plus co-authors, Bonnet D. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet 2008.

Michael Brudno Publications

  1. Lee S, Hormozdiari F, Alkan C, Brudno M. MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions Nature Methods 2009;6(7):473-4.
  2. Rumble SM, Lacroute P, Dalca AV, Fiume M, Sidow A, Brudno M. SHRiMP: Accurate Mapping of Short Color-space Reads. PLoS Computational Biology 2009;5:5.
  3. Dubchak I, Poliakov A, Kislyuk A, Brudno M. Multiple Whole Genome alignment without a Reference Sequence. Genome Res 2009;19:682-689.
  4. Lagar-Cavilla A, Whitney JA, Scannel A, Rumble SM, Patchin P, de Lara E, Brudno M, Satyanarayanan M. SnowFlock: Rapid Virtual Machine Cloning for Cloud Computing. Proceedings of the European Conference in Computer Systems (Eurosys) 2009 (Best Paper Award)
  5. Medvedev P, Brudno M. Maximum Likelihood Genome Assembly. Journal of Computational Biology, 2009 in press. (Extended journal version)
  6. Ramunas J, Montgomery HJ, Kelly L, Sukkonik T, Ellis J, Jervis EJ. Real time fluorescence tracking of dynamic transgene variegation in stem cells. Mol Ther 2007;15:810-817. 

James Ellis Publications

  1. Ramunas J, H Montgomery, L Kelly, T Sukonnik, J Ellis and E Jervis. Real time fluorescence tracking of dynamic transgene variegation in stem cells. Mol Ther 2007; 15:810-817.
  2. Ellis J, A Hotta and M Rastegar. Retrovirus silencing by an epigenetic TRIM. Cell 2007;131:13
  3. Hotta A and J Ellis. Retroviral vector silencing in iPS cells: an epigenetic beacon to signal distinct pluripotent states. J Cell Biochem 2008; 105:940-948.
  4. US patent filed Feb 29, 2008. SickKids Hospital (Toronto) on behalf of J. Ellis, D. Mager and A. Hotta. Stem cell expression cassettes.  
  5. Ellis J, Bruneau BG, Keller G, Lemischka IR, Nagy A, Rossant J, Srivastava D, Zandstra PW and Stanford WL. Alternative induced pluripotent stem cell characterization criteria for in vitro applications. Cell Stem Cell 2009;4:198-199. 
  6. Hotta A, Cheung AY, Farra N, Vijayaragavan K, Seguin CA, Draper JS, Pasceri P, Maksakova IA, Mager DL, Rossant J, Bhatia M and Ellis J. Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency. Nature Methods 2009;6:370-376.
  7. Rastegar M, Hotta A, Pasceri P, Makarem M, Cheung AYL, Elliott S, Park KJ, Adachi M, Jones FS, Clarke ID, Dirks P and Ellis J. MECP2 isoform-specific vectors with regulated expression for Rett Syndrome gene therapy. PLoS ONE 2009;4(8): e6810. doi:10.1371  
  8. Sing A., Pannell D, Karaiskakis A, Core N, Djabali M, Ellis J, Lipshitz H and Cordes S. A vertebrate Polycomb response element governs segmentation of the posterior hindbrain. Cell 2009;138(5):885-897.  

Judith Goodship Publications

  1. Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003;108(23):2843-50.
  2. Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet. 2008;40(8):949-51. 
  3. Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Riveron JG, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS One. 2009;4(3):e4978.

Steven Greenway Publications  

  1. Greenway SC, Bradley TJ, Caldarone CA, Silverman NH, Hanley FL, Smallhorn JF. Aortopulmonary window with anomalous origin of the right coronary artery from the pulmonary artery: two cases highlighting the importance of complete pre-operative echocardiographic evaluation of the coronary arteries in all conotruncal anomalies. Eur. J. Echocardiogr 2006;7(5):379-82.
  2. Greenway SC, Benson LN. The use of carvedilol in pediatric heart failure. Cardiovasc Hematol Disord Drug Targets. 2006;6(1):35-42.  
  3. Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A, Neubauer J, Tandon A, Schirmer C, McDonald GJ, Greenway SC,Stram DO, Le Marchand L, Kolonel LN, Frasco M, Wong D, Pooler LC, Ardlie K, Oakley- Girvan I, Whittemore AS, Cooney KA, John EM, Ingles SA, Altshuler D, Henderson BE, Reich D. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat. Genet. 2007;39(5): 638-44.  
  4. Kim JB, Porreca GJ, Song L, Greenway SC, Gorham JM, Church GM, Seidman CE, Seidman JG. Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science 2007;316(5830):1481-4. 
  5. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck MDL, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genetics 2009;41(8): 931-5.  
  6. Artunduaga MA, Quintanilla-Dieck MDL, Greenway S, Betensky R, Nicolau Y, Hamdan U, Jarrin P, Osorno G, Brent B, Eavey R, Seidman C, Seidman JG. A classic twin study of external ear malformations, including microtia. N Engl J Med 2009;361(12):1216-1218.

Peter Gruber Publications

  1. Christensen G, Gruber PJ, Wang Y, and Chien KR. Embryonic and neonatal cardiac gene transfer in vivo.  Methods Mol Biol 2003; 219:169-178.
  2. Gitler AD, Lepore J, Epstein JA, and Gruber PJ. Molecular markers of cardiac endocardial cushion development. Developmental Dynamics 2003; 228(4):643-650.
  3. Kook H, Lepore J, Gruber PJ, Lu MM, Mackay J, Zhou R, Ferrari V. and Epstein J. Cardiac hypertrophy and histone deacetylase-dependant transcriptional repression mediated by the homeodomain protein HOP. J Clin Invest 2003; 112(6):863-871.
  4. Gruber PJ and Epstein JA. Development gone awry: Congenital Heart Disease. Circ Res 2004; 94(3):273-283.
  5. Gruber PJ, Li P, Li H, Worrad D, Huang B, Abdullah I, Wang W, El-Deiry W, Ferrari VA, and Zhou R. In vivo imaging of MLC2v-luciferase, a cardiac-specific reporter gene expression in mice. Academic Radiology 2004; 11(9):1022-1028.
  6. Abdullah I, Lepore JJ, Epstein JA, Parmacek MS, and Gruber PJ. MRL mice fail to heal the heart in response to ischemia-reperfusion injury. Wound Repair and Regen 2005; 13(2):205-208.
  7. Laugwitz K-L, Moretti A, Lam, J, Gruber PJ, Chen Y, Woodward S, Lin L-Z, Cai, C-L, Lu MM, Reth, M, Platoshyn O, Yuan, JX-J, Evans SA, and Chien, KR. Postnatal isl1+ cardioblasts enter fully differentiated cardiomyocyte lineages. Nature 2005; 433(7026):647-53.  
  8. Gruber PJ and Laugwitz KL. Cardiac progenitor cells and regenerative medicine- a cautionary tale. Pediatr Cardiol Today2005; 3(8):1-2.
  9. Andrade J, Lam J, Adolfo J, Franco D, Sevilla N, Gruber PJ, Lu JT, and Ruiz-Lozano P. Predominant fusion of bone marrow derived cardiomyocytes. Cardiovasc Res 2005; 68(3):387-393.
  10. Gruber PJ. Cardiac Developments: New concepts. Clin Perinatol 2005; 32(4):845-855.
  11. Gruber PJ, Fuller S, Cleaver KM, Abdullah I, Gruber, SB, Nicolson SC, Gaynor JW, Wernovsky G, and Spray TL. Early results of single-stage biventricular repair of severe aortic hypoplasia or atresia with ventricular septal defect and a normal left ventricle. J Thorac Cardiovasc Surg 2006; 132(2):260-263.
  12. Hsia TY and Gruber PJ. Factors influencing neurological outcomes following neonatal cardiopulmonary bypass: what we can and cannot control. Ann Thorac Surg 2006; 81(6):S2381-2388.
  13. Trivedi CM, Luo Y, Yin Z, Zhang M, Zhu W, Wang T, Floss T, Goettlicher M, Noppinger PR, Wurst W, Ferrari VA0., Abrams CS, Gruber PJ and Epstein JA. Hdac2 regulates the cardiac hypertrophic response by 0modulating Gsk3 beta activity. Nature Medicine 2007; 13(3):324-331.  
  14. Qyang Y, Puig-Martin, S, Chiravuri M, Chen S, Xu H, Bu L, Jiang X, Lin L, Granger A, Moretti A, Caron L, Wu X, Clarke J, Taketo M, Laugwitz KL, Moon RT, Gruber PJ, Evans SE, Ding S and Chien KR. The renewal and differentiation of Isl1+ cardiovascular progenitors is controlled by Wnt/ ί-Catenin Pathway. Cell Stem Cell 2007; 1:1-15.  
  15. Granger A, Abdullah I, Huebner F, Stout A, Wang T, Huebner T, Epstein JA, and Gruber PJ. Histone deacetylase inhibition reduces myocardial ischemia-reperfusion injury in mice. FASEB J 2008; 22(10):3549-3560.  
  16. Gruber PJ, Wang L, de Zoetan EF, Granger A, Zhou D, and Hancock WW. Targeting of the histone acetyl transferase Myst1 enhances FoxP3+ regulatory T cell function and prolongs cardiac allograft survival. J Heart Lung Transplantation 2009; 28(2):S74.

Gordon Keller Publications

  1. Kattman SJ, Huber TL and Keller G. Multipotent flk-1+ cardiovascular progenitor cells give rise to the cardiomyocyte, endothelial, and vascular smooth muscle lineages. Dev Cell. 2006; 11: 723-732
  2. Yang L., Soonpaa MH, Adler ED, Roepke TK, Kattman SJ, Kennedy M, Henckaerts E, Bonham K, Abbott GW, Linden RM, Field LJ, Keller GM. Human cardiovascular progenitor cells develop from a KDR(+) embryonic-stem-derived population. Nature 2008; 453(7194):524-8.
  3. Chen VC, Stull R, Joo D, Cheng X, Keller G. Notch signaling respecifies the hemangioblast to a cardiac fate. Nat Biotechnol. 2008;(10):1169-78.

Antoon Moorman Publications

  1. Soufan AT, van den Hoff MJB, Ruijter JM, de Boer PAJ, Hagoort J, Webb S, Anderson RH, Moorman AFM. Reconstruction of the patterns of gene expression in the developing mouse heart reveals an architectural arrangement that facilitates the understanding of atrial malformations and arrhythmias. Circ Res 2004;95:1207-15.
  2. Anderson RH, Brown NA, Moorman AFM. Development and structures of the venous pole of the heart. Dev Dyn 2006; 235: 2-9.
  3. Mommersteeg MTM, Soufan AT, de Lange FJ, van den Hoff MJB, Anderson RH, Christoffels VM, Moorman AFM. Two distinct pools of mesenchyme contribute to the development of the atrial septum. Circ Res 2006;99:351-3.
  4. Oostra RJ, Steding G, Lamers WH, Moorman AFM. Steding’s and Viragh’s electron microscopy atlas of the developing heart. New York: Springer-Verlag, 2006. 
  5. Postma AV, van de Meerakker JBA, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AAM, Lekanne Deprez RH, Moorman AFM. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 2008;102:1433-42. 
  6. Moorman AFM, Anderson RH. Development of the thorax. In: Standring S (ed). Gray's anatomy. The anatomical basis of clinical practice. London: Churchill Livingstone Elsevier, 2008, pp.1013-1037.
  7. van den Berg G, Abu-Issa R, de Boer BA, Hutson MR, de Boer PA, Soufan AT, Ruijter JM, Kirby ML, van den Hoff MJ, Moorman AF.  A caudal proliferating growth center contributes to both poles of the forming heart tube. Circ Res 2009. Jan 30; 104(2):179-88.  

Barbara Mulder Publications

  1. Duffels MGJ, Engelfriet PM, Berger RMF, van Loon RLE, Hoendermis E, Vriend JWJ, van der Velde ET, Bresser P, Mulder BJM. Pulmonary arterial hypertension in congenital heart disease: an epidemiologic perspective from a Dutch registry. International Journal of CardiologyU 2007; 120(2): 198-204.
  2. Engelfriet PM, Drenthen W, Pieper PG, Tijssen JGP, Yap SC, Boersma E, Mulder BJM. Smoking and its effects on mortality in adults with congenital heart disease. International Journal of Cardiology 2008; 127(1): 93-7.
  3. Joziasse IC, van de Smagt JJ, Smith K, Bakkers J, Sieswerda GJ, Mulder BJM, Doevendans PA. Genes in congenital heart disease: atrioventricular valve formation. Basic Research in Cardiology 2008; 103(3): 216-27.
  4. Yap SC, Drenthen W, Pieper PG, Moons P, Mulder BJM, Mostert B, Vliegen HW, van Dijk APJ, Meijboom FJ, Steegers EAP, Roos-Hesselink JW. Risk of complications during pregnancy in women with congenital aortic stenosis. International Journal of Cardiology 2008; 126(2): 240-6.
  5. Verheugt CL, Uiterwaal C SPM, van der Velde ET, Meijboom FJ, Pieper PG, Vliegen HW, van Dijk APJ, Bouma BJ, Grobbee DE, Mulder BJM. Gender and outcome in adult congenital heart disease. Circulation 2008; 118(1): 26-32.

Andrew Paterson Publications

  1. James PD, Paterson AD, plus co-investigators and the Association of Hemophilia Clinic Directors of Canada. Genetic Linkage and Association Analysis in Type 1 von Willebrand Disease: Results from the Canadian Type 1 VWD Study. Journal of Thrombosis and Hemostasis 2006; 4: 783-92.
  2. The Autism Genome Project Consortium; Szatmari P, Paterson AD, plus co-authors. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 2006; 39: 319-28.
  3. Al-Kateb, plus co-authors, Paterson AD and the DCCT/EDIC Research Group research group. Multiple Superoxide Dismutase 1/Splicing Factor Serine Alanine 15 variants are associated with the development and progression of diabetic nephropathy: The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics Study. Diabetes 2008; 57: 218-28.  
  4. Liu XQ, Paterson AD, plus co-authors, and The Autism Genome Project Consortium. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biological PsychiatryU 2008; 64(7): 561-70.

Alex Postma Publications

  1. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85(12):1206-13.
  2. Postma AV, Denjoy I, Hoorntje TM, Lupoglazoff JM, Da Costa A, Sebillon P, Mannens MM, Wilde AA, Guicheney P. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91(8):e21-6.
  3. Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet 2005;42(11):863-70.  
  4. Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation 2007;116(14):1569-76. 
  5. Bhuiyan ZA, Hamdan MA, Shamsi ET, Postma AV, Mannens MM, Wilde AA, Al-Gazali L. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiovasc Electrophysiol 2007;18(10):1060-6.
  6. Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF. A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 2008;102(11):1433-42.  

Stephen W. Scherer Publications

  1. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature. 2006 Nov 23;444(7118):444-54.
  2. Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, *Scherer SWand Feuk L. Genome assembly comparison identifies structural variants in the human genome. Nature Genetics 2006 *corresponding author.  
  3. The Autism Genome Project Consortium*. 2007 Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics [Epub ahead of print] *Devlin B and Scherer SWcorresponding authors.
  4. Okamura K, Wei J and Scherer SW. Evolutionary implications of the symmetry of complementary DNA strands. BMC Genomics. Jun 11 [Epub ahead of print]  
  5. Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromes. Human Molecular Genetics 2008;24,4045-4053.
  6. Cook EH and Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature 2008;455, 919-923.  

Michael Tyers Publications

  1. Costanzo M, Nishikawa J, Tang J, Millman J, Schub O, Breitkreuz K, Dewar D, Rupes I, Andrews B and Tyers M. CDK activity antagonizes Whi5, an inhibitor of G1/S transcription in yeast. Cell 2004;117, 899-913
  2. Tang X, Orlicky S, Lin, Z, WillemsAR, Neculai D, Ceccarelli D, Mercurio F, Shilton BH, Sicheri F* and Tyers M*. Suprafacial orientation of the SCFCdc4 dimer accommodates multiple geometries for substrate ubiquitination. Cell 2007;129, 1165-1176  
  3. Diamandis P, Wildenhain J, Clarke ID, Sacher AG, Bellows DS, Ling EKM, Ward RJ, Jamieson LG, Graham J, Tyers M*and Dirks PB*. Chemical genetics reveals a complex functional ground state of neural stem cells. Nature Chem. Biol 2007;3,268-273.  
  4. Mittag T, Orlicky S, Choy W-Y, Tang X, Lin H, Sicheri F, Kay LE, Tyers M* and Forman-Kay JD*. Dynamic equilibrium engagement of a polyvalent ligand with a single site receptor. Proc. Natl. Acad. Sci USA 2008;105,17772-17777  
  5. Singh J and Tyers M. A Rab escort protein integrates the secretion system with TOR signaling and ribosome biogenesis. Genes Dev 2009;23,1944-1958  

Aeilko Zwinderman Publications

  1. Ferreira JA, Zwinderman AH. Approximate Sample Size Calculations with Microarray Data: an Illustration. Statistical Applications in Genetics and Molecular Biology, 2006, Vol 5, art 25.  
  2. Tanck, Jukema, Zwinderman AH. Simultaneous estimation of gene-gene and gene-environment interactions for numerous loci using double penalized log-likelihood, Genet Epidemiol. 2006; 30(8):645-51.  
  3. Wintrebert CM, Zwinderman AH, Maat-Kievit A, Roos RA, van Houwelingen HC. Assessing genetic effects in survival data by correlating martingale residuals with an application to age at onset of Huntington disease. Stat Med. 2006;25(18):3190-200.  
  4. Zwinderman AH, Bossuyt PM. We should not pool diagnostic likelihood ratios in systematic reviews. Stat Med. 2008 Feb 28;27(5):687-97.  
  5. de Groot JA, Janssen KJ, Zwinderman AH, Moons KG, Reitsma JB. Multiple imputation to correct for partial verification bias revisited. Stat Med. 2008; 28(5):899.
  6. Waaijenborg S, Verselewel de Witt Hamer PC, Zwinderman AH. Quantifying the association between gene expressions and DNA-markers by penalized canonical correlation analysis. Stat Appl Genet Mol Biol. 2008;7(1):Article3.  
  7. Zwinderman AH, Glas AS, Bossuyt PM, Florie J, Bipat S, Stoker J. Statistical models for quantifying diagnostic accuracy with multiple lesions per patient. Biostatistics. 2008; 9(3):513-22.  
  8. Souverein OW, Zwinderman AH, Jukema JW, Tanck MW. Estimating effects of rare haplotypes on failure time using a penalized Cox proportional hazards regression model. BMC Genet. 2008 Jan 25;9(1):9.

 

 

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