Department of Genetics Newsletter - Fall 2011
Congratulations!
Chuck Perou has been appointed May Goldman Shaw Distinguished Professor of Molecular Oncology Research.
Pat Sullivan has been elected as a Fellow of the American Association for the Advancement of Science (AAAS). Pat is in the Section on Medical Sciences.
Cynthia Powell has been chosen as President-Elect of the American Board of Medical Genetics for 2011. She will serve as President in 2012.
Jonathan Berg is the recipient of a 2011 Lineberger Clinical/Translational Research Award. This funding will be used to develop the use of whole exome sequencing for diagnostic testing in patients with hereditary susceptibility to breast cancer. Data analysis will focus initially on genes with germline mutations known to lead to cancer susceptibility (BRCA1, BRCA2, TP53, PTEN, etc.) to evaluate the use of this technology for clinical diagnosis. Sequences from patients lacking mutations in these known genes will be analyzed further to discover genes previously unrecognized as contributing to the development of breast cancer.
Promotion: Fernando Pardo-Manuel de Villena was promoted to full Professor, effective July 1, 2011.
New Faculty:
Praveen Sethupathy joined the Department as a tenure-track Assistant Professor on September 1st. Praveen earned his PhD in Genomics and Computational Biology from the University of Pennsylvania and carried out postdoctoral research with Francis Collins in the National Human Genome Research Institute at NIH. His current research focus is on the discovery of miRNA modules that control human pancreatic islet function, with the ultimate aim of understanding the role of disruption of transcriptional regulatory elements in type 2 diabetes.
Christopher Barker joined the UNC faculty this August as Associate Professor of Genetics and Director of Strategic Alliances for Enabling Technologies for the NC TraCS Institute. Just prior to coming to UNC, he was Scientific Resources Director of the J. David Gladstone Institutes at the University of California
Faculty in the News
Chuck Perou and other investigators in the Cancer Genome Atlas Research Network have catalogued molecular genetic aberrations in a large sample of ovarian cancers. The results of this study were published recently in Nature. Chuck and his UNC collaborators (Katie Hoadley and Neil Hayes) carried out the microRNA and mRNA microarray analysis on these tumors. This study is the most comprehensive and integrated view of cancer genes for any cancer type produced to date.
The Psychiatric Genome-Wide Association Study Consortium, of which Pat Sullivan is a lead investigator, has recently published the results of two large studies in Nature Genetics. These studies report on associations between newly recognized loci with schizophrenia and bipolar disorder, as well as confirmation in a very large patient population of loci that had previously been implicated in schizophrenia.
Billy Kim, along with collaborators in the Lineberger Cancer Center, University of Toronto, University of Pennsylvania, University of California, San Diego, Howard Hughes Medical Institute and The Hospital for Sick Children in Toronto, Ontario, have found that mutations in the Von Hippel Lindau gene (VHL) in patients with Chuvash polycythemia lead to activation of JAK2. The majority of polycythemia patients actually have mutations in the JAK2 gene. This finding, which was recently published in Nature Medicine, suggests that similar targeted therapies should be applicable to both forms of the disease.
Shawn Ahmed and colleagues have had a paper published in the April 22nd issue of Science, entitled "DNA Synthesis Generates Terminal Duplications That Seal End-to-End Chromosome Fusions." This paper presents results of studies by Shawn and his colleagues demonstrating that fused chromosomes in C. elegans can result from mechanisms other than breakage-fusion-bridge cycles. One of these possible mechanisms involves a DNA-synthesis-based process (FoSTeS) that is a model for certain disease-associated duplications in the human genome.
Research in Fernando Pardo-Manuel de Villena's lab has recently Also, Fernando's group and collaborators from Leonard McMillan's group in Computer Science at UNC, Gary Churchill's group at the Jackson Laboratories, and from several other institutions, have published on "Subspecific origin and haplotype diversity in the laboratory mouse," in Nature Genetics. This paper reports on the detailed genetic analysis of a large number of classical inbred and wild-derived strains of mice. The results of a phylogenetic analysis of these strains are reported, and an online resource (the Mouse Phylogeny Viewer) that can be used by all researchers to obtain "reliable and detailed answers to questions on the haplotype diversity and phylogenetic origin of the genetic variation underlying any genomic region of most laboratory strains."
Jim Evans is first author
Publications (Jan - Aug 2011)
Lowden, MR, Flibotte, S, Moerman, D, and Ahmed, S. DNA synthesis generates terminal duplications that seal end-to-end chromosome fusions. Science 2011;332: 468-471.
Asokan, A
Neutralizing antibodies against adeno-associated virus examined prospectively in pediatric patients with hemophilia. Li C, Narkbunnam N, Samulski RJ, Asokan A, Hu G, Jacobson LJ, Manco-Johnson MJ, Monahan PE. Gene Ther. 2011 Jun 23. doi: 10.1038/gt.2011.90. [Epub ahead of print] Pulicherla N, Asokan A. Peptide affinity reagents for AAV capsid recognition and purification. Gene Ther. 2011 Apr 14. [Epub ahead of print] PMID:21490687 Horowitz ED, Weinberg MS, Asokan A. Glycated AAV vectors: chemical redirection of viral tissue tropism. Bioconjug Chem. 2011 Apr 20;22(4):529-32. Pulicherla N, Shen S, Yadav S, Debbink K, Govindasamy L, Agbandje-McKenna M, Asokan A Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer. Mol Ther. 2011 Jun;19(6):1070-8. Shen S, Bryant KD, Brown SM, Randell SH, Asokan A. Terminal N-linked galactose is the primary receptor for adeno-associated virus 9. J Biol Chem. 2011 Apr 15;286(15):13532-40. Phillips JL, Hegge J, Wolff JA, Samulski RJ, Asokan A. Systemic gene transfer to skeletal muscle using reengineered AAV vectors. Methods Mol Biol. 2011;709:141-51.
Aylsworth, A
Berg, JS
Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med. 2011 Jun;13(6):499-504. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15;20(10):1975-88. Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med. 2011 Mar;13(3):218-29.
Booker, J
Bultman, S
Caron, K
Chiang, D
Dooley AL, Winslow MM, Chiang DY, Banerji S, Stransky N, Dayton TL, Snyder EL, Senna S, Whittaker CA, Bronson RT, Crowley D, Barretina J, Garraway L, Meyerson M, Jacks T. Nuclear factor I/B is an oncogene in small cell lung cancer. Genes Dev. 2011 Jul 15;25(14):1470-5. Winslow MM, Dayton TL, Verhaak RG, Kim-Kiselak C, Snyder EL, Feldser DM, Hubbard DD, DuPage MJ, Whittaker CA, Hoersch S, Yoon S, Crowley D, Bronson RT, Chiang DY, Meyerson M, Jacks T. Suppression of lung adenocarcinoma progression by Nkx2-1. Nature. 2011 May 5;473(7345):101-4. Toffanin S, Hoshida Y, Lachenmayer A, Villanueva A, Cabellos L, Minguez B, Savic R, Ward SC, Thung S, Chiang DY, Alsinet C, Tovar V, Roayaie S, Schwartz M, Bruix J, Waxman S, Friedman SL, Golub T, Mazzaferro V, Llovet JM. MicroRNA-based classification of hepatocellular carcinoma and oncogenic role of miR-517a. Gastroenterology. 2011 May;140(5):1618-28.
Ciavatta, D
Conlon, F
Doherty JT, Lenhart KC, Cameron MV, Mack CP, Conlon FL, Taylor JM. Skeletal Muscle Differentiation and Fusion Are Regulated by the BAR-containing Rho-GTPase-activating Protein (Rho-GAP), GRAF1. J Biol Chem. 2011 Jul 22;286(29):25903-21. Kaltenbrun E, Tandon P, Amin NM, Waldron L, Showell C, Conlon FL. Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol. 2011 Jun;91(6):495-510.
Davis, I
Resseguie ME, da Costa KA, Galanko JA, Patel M, Davis IJ, Zeisel SH. Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction. J Biol Chem. 2011 Jan 14;286(2):1649-58.
Duronio, R
Burch BD, Godfrey AC, Gasdaska PY, Salzler HR, Duronio RJ, Marzluff WF, Dominski Z. Interaction between FLASH and Lsm11 is essential for histone pre-mRNA processing in vivo in Drosophila. RNA. 2011 Jun;17(6):1132-47. Swanson CI, Duronio RJ. Developmental regulation of replication-coupled protein destruction. Cell Cycle. 2011 Mar 15;10(6):859-60.
Evans, J
Evans JP. Looking ahead, looking behind. Introduction. Genet Med. 2011 Mar;13(3):177-8. Evans JP, Meslin EM, Marteau TM, Caulfield T. Genomics. Deflating the genomic bubble. Science. 2011 Feb 18;331(6019):861-2 Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med. 2011 Mar;13(3):218-29.
Furey, T
Song L, Zhang Z, Grasfeder LL, Boyle AP, Giresi PG, Lee BK, Sheffield NC, Gräf S, Huss M, Keefe D, Liu Z, London D, McDaniell RM, Shibata Y, Showers KA, Simon JM, Vales T, Wang T, Winter D, Zhang Z, Clarke ND, Birney E, Iyer VR, Crawford GE, Lieb JD, Furey TS. Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity. Genome Res. 2011 Jul 12. [Epub ahead of print] PMID:21750106 ENCODE Project Consortium, Myers RM, Stamatoyannopoulos J, Snyder M, Dunham I, Hardison RC, Bernstein BE, Gingeras TR, Kent WJ, Birney E, Wold B, Crawford GE. A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol. 2011 Apr;9(4):e1001046. Boyle AP, Song L, Lee BK, London D, Keefe D, Birney E, Iyer VR, Crawford GE, Furey TS. High-resolution genome-wide in vivo footprinting of diverse transcription factors in human cells. Genome Res. 2011 Mar;21(3):456-64.
Heise, M
Sheahan T, Whitmore A, Long K, Ferris M, Rockx B, Funkhouser W, Donaldson E, Gralinski L, Collier M, Heise M, Davis N, Johnston R, Baric RS. Successful vaccination strategies that protect aged mice from lethal challenge from influenza virus and heterologous severe acute respiratory syndrome coronavirus. J Virol. 2011 Jan;85(1):217-30.
Juengst, E
Mehlman MJ, Berg JW, Juengst ET, Kodish E. Ethical and legal issues in enhancement research on human subjects. Camb Q Healthc Ethics. 2011 Jan;20(1):30-45.
Kaiser-Rogers, K
Kearney, H
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011 Jul;13(7):680-5. Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW; A Working Group of the American College of Medical Genetics. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med. 2011 Jul;13(7):676-679.
Kelkar, H
Kim, W
Whang YE, Armstrong AJ, Rathmell WK, Godley PA, Kim WY, Pruthi RS, Wallen EM, Crane JM, Moore DT, Grigson G, Morris K, Watkins CP, George DJ.A phase II study of lapatinib, a dual EGFR and HER-2 tyrosine kinase inhibitor, in patients with castration-resistant prostate cancer.Urol Oncol. 2011 Mar 9. [Epub ahead of print] PMID:21396844
Koller, B
Kim WK, Park JS, Sul OJ, Seo JH, Choi BK, Park HY, Latour AM, Koller BH, Kwon BS, Jeong CS. Role of TNFR-related 2 mediated immune responses in dextran sulfate sodium-induced inflammatory bowel disease. Mol Cells. 2011 Feb;31(2):99-104.
Lange, E
Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, Corey M, Dorfman R, Goddard K, Green D, Kent JW Jr, Lange EM, Lee S, Li W, Luo J, Mayhew GM, Naughton KM, Pace RG, Paré P, Rommens JM, Sandford A, Stonebraker JR, Sun W, Taylor C, Vanscoy LL, Zou F, Blangero J, Zielenski J, O'Neal WK, Drumm ML, Durie PR, Knowles MR, Cutting GR. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet. 2011 Jun;43(6):539-46. Lange EM, Salinas CA, Zuhlke KA, Ray AM, Wang Y, Lu Y, Ho LA, Luo J, Cooney KA. Early onset prostate cancer has a significant genetic component. Prostate. 2011 May 2. doi: 10.1002/pros.21414. [Epub ahead of print] PMID:21538423 Cohen SS, Gammon MD, North KE, Millikan RC, Lange EM, Williams SM, Zheng W, Cai Q, Long J, Smith JR, Signorello LB, Blot WJ, Matthews CE. ADIPOQ, ADIPOR1, and ADIPOR2 Polymorphisms in Relation to Serum Adiponectin Levels and BMI in Black and White Women. Obesity (Silver Spring). 2011 Jan 27. [Epub ahead of print]PMID:21273992 Graff M, North KE, Monda KL, Lange EM, Lange LA, Guo G, Gordon-Larsen P. The combined influence of genetic factors and sedentary activity on body mass changes from adolescence to young adulthood: the National Longitudinal Adolescent Health Study. Diabetes Metab Res Rev. 2011 Jan;27(1):63-9. Cohen SS, Gammon MD, Signorello LB, North KE, Lange EM, Fowke JH, Hargreaves MK, Cai Q, Zheng W, Blot WJ, Matthews CE. Serum adiponectin in relation to body mass index and other correlates in black and white women. Ann Epidemiol. 2011 Feb;21(2):86-94. Wassel CL, Lange LA, Keating BJ, Taylor KC, Johnson AD, Palmer C, Ho LA, Smith NL, Lange EM, Li Y, Yang Q, Delaney JA, Tang W, Tofler G, Redline S, Taylor HA Jr, Wilson JG, Tracy RP, Jacobs DR Jr, Folsom AR, Green D, O'Donnell CJ, Reiner AP. Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). Blood. 2011 Jan 6;117(1):268-75. Croteau-Chonka DC, Marvelle AF, Lange EM, Lee NR, Adair LS, Lange LA, Mohlke KL. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Obesity (Silver Spring). 2011 May;19(5):1019-27.
Lange, L
Taylor KC, Lange LA, Zabaneh D, Lange E, Keating BJ, Tang W, Smith NL, Delaney JA, Kumari M, Hingorani A, North KE, Kivimaki M, Tracy RP, O'Donnell CJ, Folsom AR, Green D, Humphries SE, Reiner A. A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium. Hum Mol Genet. 2011 Sep 1;20(17):3525-34. Wu Y, McDade TW, Kuzawa CW, Borja J, Li Y, Adair LS, Mohlke KL, Lange LA. Genome-wide Association with C-Reactive Protein Levels in CLHNS: Evidence for the CRP and HNF1A Loci and their Interaction with Exposure to a Pathogenic Environment. Inflammation. 2011 Jun 7. [Epub ahead of print] PMID:21647738 Pasaniuc B, Zaitlen N, Lettre G, Chen GK, Tandon A, Kao WH, Ruczinski I, Fornage M, Siscovick DS, Zhu X, Larkin E, Lange LA, Cupples LA, Yang Q, Akylbekova EL, Musani SK, Divers J, Mychaleckyj J, Li M, Papanicolaou GJ, Millikan RC, Ambrosone CB, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante SJ, Bandera EV, Ingles SA, Press MF, Chanock SJ, Deming SL, Rodriguez-Gil JL, Palmer CD, Buxbaum S, Ekunwe L, Hirschhorn JN, Henderson BE, Myers S, Haiman CA, Reich D, Patterson N, Wilson JG, Price AL. Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. PLoS Genet. 2011 Apr;7(4):e1001371. Bielinski SJ, Reiner AP, Nickerson D, Carlson C, Bailey KR, Thyagarajan B, Lange LA, Boerwinkle EA, Jacobs DR Jr, Gross MD. Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1). Atherosclerosis. 2011 Jun;216(2):390-4. Graff M, North KE, Monda KL, Lange EM, Lange LA, Guo G, Gordon-Larsen P. The combined influence of genetic factors and sedentary activity on body mass changes from adolescence to young adulthood: the National Longitudinal Adolescent Health Study. Diabetes Metab Res Rev. 2011 Jan;27(1):63-9. Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, Maloney CM, Lobmeyer MT, Stanton A, Zafarmand MH, Romaine SP, Mehta A, van Iperen EP, Gong Y, Price TS, Smith EN, Kim CE, Li YR, Asselbergs FW, Atwood LD, Bailey KM, Bhatt D, Bauer F, Behr ER, Bhangale T, Boer JM, Boehm BO, Bradfield JP, Brown M, Braund PS, Burton PR, Carty C, Chandrupatla HR, Chen W, Connell J, Dalgeorgou C, Boer A, Drenos F, Elbers CC, Fang JC, Fox CS, Frackelton EC, Fuchs B, Furlong CE, Gibson Q, Gieger C, Goel A, Grobbee DE, Hastie C, Howard PJ, Huang GH, Johnson WC, Li Q, Kleber ME, Klein BE, Klein R, Kooperberg C, Ky B, Lacroix A, Lanken P, Lathrop M, Li M, Marshall V, Melander O, Mentch FD, Meyer NJ, Monda KL, Montpetit A, Murugesan G, Nakayama K, Nondahl D, Onipinla A, Rafelt S, Newhouse SJ, Otieno FG, Patel SR, Putt ME, Rodriguez S, Safa RN, Sawyer DB, Schreiner PJ, Simpson C, Sivapalaratnam S, Srinivasan SR, Suver C, Swergold G, Sweitzer NK, Thomas KA, Thorand B, Timpson NJ, Tischfield S, Tobin M, Tomaszweski M, Verschuren WM, Wallace C, Winkelmann B, Zhang H, Zheng D, Zhang L, Zmuda JM, Clarke R, Balmforth AJ, Danesh J, Day IN, Schork NJ, de Bakker PI, Delles C, Duggan D, Hingorani AD, Hirschhorn JN, Hofker MH, Humphries SE, Kivimaki M, Lawlor DA, Kottke-Marchant K, Mega JL, Mitchell BD, Morrow DA, Palmen J, Redline S, Shields DC, Shuldiner AR, Sleiman PM, Smith GD, Farrall M, Jamshidi Y, Christiani DC, Casas JP, Hall AS, Doevendans PA, Christie JD, Berenson GS, Murray SS, Illig T, Dorn GW 2nd, Cappola TP, Boerwinkle E, Sever P, Rader DJ, Reilly MP, Caulfield M, Talmud PJ, Topol E, Engert JC, Wang K, Dominiczak A, Hamsten A, Curtis SP, Silverstein RL, Lange LA, Sabatine MS, Trip M, Saleheen D, Peden JF, Cruickshanks KJ, März W, O'Connell JR, Klungel OH, Wijmenga C, Maitland-van der Zee AH, Schadt EE, Johnson JA, Jarvik GP, Papanicolaou GJ; Hugh Watkins on behalf of PROCARDIS, Grant SF, Munroe PB, North KE, Samani NJ, Koenig W, Gaunt TR, Anand SS, van der Schouw YT; Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Soranzo N, Fitzgerald GA, Reiner A, Hegele RA, Hakonarson H, Keating BJ. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet. 2011 Jan 7;88(1):6-18. Lo KS, Wilson JG, Lange LA, Folsom AR, Galarneau G, Ganesh SK, Grant SF, Keating BJ, McCarroll SA, Mohler ER 3rd, O'Donnell CJ, Palmas W, Tang W, Tracy RP, Reiner AP, Lettre G. Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet. 2011 Mar;129(3):307-17. Wassel CL, Lange LA, Keating BJ, Taylor KC, Johnson AD, Palmer C, Ho LA, Smith NL, Lange EM, Li Y, Yang Q, Delaney JA, Tang W, Tofler G, Redline S, Taylor HA Jr, Wilson JG, Tracy RP, Jacobs DR Jr, Folsom AR, Green D, O'Donnell CJ, Reiner AP. Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). Blood. 2011 Jan 6;117(1):268-75. Croteau-Chonka DC, Marvelle AF, Lnge EM, Lee NR, Adair LS, Lange LA, Mohlke KL. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Obesity (Silver Spring). 2011 May;19(5):1019-27.
Li, Y
Wu Y, McDade TW, Kuzawa CW, Borja J, Li Y, Adair LS, Mohlke KL, Lange LA. Genome-wide Association with C-Reactive Protein Levels in CLHNS: Evidence for the CRP and HNF1A Loci and their Interaction with Exposure to a Pathogenic Environment. Inflammation. 2011 Jun 7. [Epub ahead of print] PMID:21647738 Li Y, Sidore C, Kang HM, Boehnke M, Abecasis GR. Low-coverage sequencing: implications for design of complex trait association studies. Genome Res. 2011 Jun;21(6):940-51. Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. Mapping copy number variation by population-scale genome sequencing. Nature. 2011 Feb 3;470(7332):59-65. Zheng J, Li Y, Abecasis GR, Scheet P. A comparison of approaches to account for uncertainty in analysis of imputed genotypes. Genet Epidemiol. 2011 Feb;35(2):102-10. Li, Y, and Mohlke, K
Magnuson, T
Griffin CT, Curtis CD, Davis RB, Muthukumar V, Magnuson T. The chromatin-remodeling enzyme BRG1 modulates vascular Wnt signaling at two levels. Proc Natl Acad Sci U S A. 2011 Feb 8;108(6):2282-7.
Matera, G
Mieczkowski, P
Abell AN, Jordan NV, Huang W, Prat A, Midland AA, Johnson NL, Granger DA, Mieczkowski PA, Perou CM, Gomez SM, Li L, Johnson GL. MAP3K4/CBP-regulated H2B acetylation controls epithelial-mesenchymal transition in trophoblast stem cells. Cell Stem Cell. 2011 May 6;8(5):525-37. Burch LH, Yang Y, Sterling JF, Roberts SA, Chao FG, Xu H, Zhang L, Walsh J, Resnick MA, Mieczkowski PA, Gordenin DA. Damage-induced localized hypermutability. Cell Cycle. 2011 Apr 1;10(7):1073-85.
Miller, V
Weening EH, Cathelyn JS, Kaufman G, Lawrenz MB, Price P, Goldman WE, Miller VL. The dependence of the Yersinia pestis capsule on pathogenesis is influenced by the mouse background. Infect Immun. 2011 Feb;79(2):644-52.
Mohlke, K
Muenzer, J
Muhlebach MS, Wooten W, Muenzer J. Respiratory manifestations in mucopolysaccharidoses. Paediatr Respir Rev. 2011 Jun;12(2):133-8. Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A, Wraith JE. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey. Genet Med. 2011 Feb;13(2):102-9. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011 Feb;13(2):95-101.
Pardo-Manuel de Villena, F
Showell C, Carruthers S, Hall A, Pardo-Manuel de Villena F, Stemple D, Conlon FL. A Comparative Survey of the Frequency and Distribution of Polymorphism in the Genome of Xenopus tropicalis. PLoS One. 2011;6(8):e22392. Durrant C, Tayem H, Yalcin B, Cleak J, Goodstadt L, Pardo-Manuel de Villena F, Mott R, Iraqi FA. Collaborative Cross mice and their power to map host susceptibility to Aspergillus fumigatus infection. Genome Res. 2011 Aug;21(8):1239-48. Aylor DL, Valdar W, Foulds-Mathes W, Buus RJ, Verdugo RA, Baric RS, Ferris MT, Frelinger JA, Heise M, Frieman MB, Gralinski LE, Bell TA, Didion JD, Hua K, Nehrenberg DL, Powell CL, Steigerwalt J, Xie Y, Kelada SN, Collins FS, Yang IV, Schwartz DA, Branstetter LA, Chesler EJ, Miller DR, Spence J, Liu EY, McMillan L, Sarkar A, Wang J, Wang W, Zhang Q, Broman KW, Korstanje R, Durrant C, Mott R, Iraqi FA, Pomp D, Threadgill D, Pardo-Manuel de Villena F, Churchill GA. Genetic analysis of complex traits in the emerging Collaborative Cross. Genome Res. 2011 Aug;21(8):1213-22. Threadgill DW, Miller DR, Churchill GA, de Villena FP. The collaborative cross: a recombinant inbred mouse population for the systems genetic era. ILAR J. 2011 Feb 8;52(1):24-31.
Perou, C
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Wilhelmsen, K
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Wiltshire, T
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on a Policy Forum in the February 18th issue of Science entitled "