Publications

                    
  1. Ang Y, Rivas R, Ribeiro A, Srivas R, Rivera J, Stone N, Pratt K, Mohamed T, Fu J, Spencer C,  Tippens N, Li M, Narasimha A, Radzinsky E, Moon-Grady A, Yu H, Pruitt B, Snyder M, Srivastava D. Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis  Cell Dec 2016, Vol 167, Issue 7, 1734–1749.e22

  2. Dickel DE, Barozzi I, Zhu Y, Fukuda-Yuzawa Y, Osterwalder M, Mannion BJ, May D, Spurrell CH, Plajzer-Frick I, Pickle CS, Lee E, Garvin TH, Kato M, Akiyama JA, Afzal V, Lee AY, Gorkin DU, Ren B, Rubin EM, Visel A, Pennacchio LA  Genome-wide compendium and functional assessment of in vivo heart enhancers. Nature Communications 2016; 7: 12923. PMID: In Process PMCID: 5059478

  3. Barozzi, Iros; Visel, Axel; Dickel, Diane E. Fishing for Function in the Human Gene Pool Trends Genet 2016 Jul; 32(7):392-4 PMID: 27220646 PMC ID: 4912909

  4. Karanth, Santhosh; Zinkhan, Erin K; Hill, Jonathon T; Yost, H Joseph; Schlegel, Amnon. FOXN3 Regulates Hepatic Glucose Utilization. Cell Rep 2016 Jun 21; 15(12):2745-55 PMID: 27292639 PMC ID: 4917433

  5. Day DS, Zhang B, Stevens SM, Ferrari F, Larschan EN, Park PJ, Pu WT  Comprehensive analysis of promoter-proximal RNA polymerase II pausing across mammalian cell types.  Genome Biol. 2016 Jun 3;17(1):120.  PMID: 27259512

  6. Thomas R, Thomas S, Holloway A, Pollard K. Features that define the best ChIP-seq peak calling algorithms.  Briefings In Bioinformatics, 2016, 10. PMID: 27169896; PMCID: In process.

  7. Edwards, Jonathan J; Gelb, Bruce D. Genetics of Congential Heart Disease Curr Opin Cardiol 2016 May; 31(3):235-41 PMID: 26872209 PMC ID: 4868504

  8. Whalen, Sean; Truty, Rebecca M; Pollard, Katherine S. Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin. Nat Genet 2016 May; 48(5):488-96 PMID: 27064255 PMC ID: 4910881

  9. Stevens, Sean M; Gise, Alexander von; VanDusen, Nathan; Zhou, Bin; Pu, William T. Epicardium is required for cardiac seeding by yolk sac macrophages, precursors of resident macrophages of the adult heart Dev Biol 2016 May 15; 413(2):153-9 PMID: 26988120 PMC ID: In Process

  10. Refaat, Marwan M; Fahed, Akl C; Hassanieh, Sylvana; Hotait, Mostafa; Arabi, Mariam; Skouri, Hadi; Seidman, Jonathan G; Seidman, Christine E; Bitar, Fadi F; Nemer, Georges. The Muscle-Bound Heart Card Electrophysiol Clin 2016 Mar; 8(1):223-31 PMID: 26920199 PMC ID: In Process

  11. Ang, Siang-Yun; Uebersohn, Alec; Spencer, C Ian; Huang, Yu; Lee, Ji-Eun; Ge, Kai; Bruneau, Benoit G. KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development 2016 Mar 1; 143(5):810-21 PMID: 26932671 PMC ID: 4813342

  12. Priest, James R; Osoegawa, Kazutoyo; Mohammed, Nebil; Nanda, Vivek; Kundu, Ramendra; Schultz, Kathleen; Lammer, Edward J; Girirajan, Santhosh; Scheetz, Todd; Waggott, Daryl; Haddad, Francois; Reddy, Sushma; Bernstein, Daniel; Burns, Trudy; Steimle, Jeffrey D; Yang, Xinan H; Moskowitz, Ivan P; Hurles, Matthew; Lifton, Richard P; Nickerson, Debbie; Bamshad, Michael; Eichler, Evan E; Mital, Seema; Sheffield, Val; Quertermous, Thomas; Gelb, Bruce D; Portman, Michael; Ashley, Euan A. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS Genet 2016 Apr 8; 12(4) PMID: 27058611 PMC ID: 4825975

  13. Luna-Zurita, Luis; Stirnimann, Christian U; Glatt, Sebastian; Kaynak, Bogac L; Thomas, Sean; Baudin, Florence; Samee, Md Abul Hassan; He, Daniel; Small, Eric M; Mileikovsky, Maria; Nagy, Andras; Holloway, Alisha K; Pollard, Katherine S; Müller, Christoph W; Bruneau, Benoit G. Complex Interdependence Regulates Heterotypic Transcription Factor Distribution and Coordinates Cardiogenesis Cell 2016 Feb 25; 164(5):999-1014 PMID: 26875865 PMC ID: 4769693

  14. Zhou, Pingzhu; Pu, William T. Recounting Cardiac Cellular Composition Circ Res 2016 Feb 5; 118(3):368-70 PMID: 26846633 PMC ID: 4755297

  15. Haliburton, Genevieve D E; McKinsey, Gabriel L; Pollard, Katherine S. Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development. Neurogenetics 2016 Jan; 17(1):1-9 PMID: 26382291 PMC ID: 4701781

  16. Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter Jr. GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science, 2015; 350(6265):1262-1266. PMID: 26785492; PMCID: 4890146.

  17. Kostka D, Friedrich T, Holloway AK, Pollard KS. motifDiverge: a model for assessing the statistical significance of gene regulatory motif divergence between two DNA sequences. Statistics and Its Interface. 2015; 8(4): 463-476. PMID: 26709360; PMCID: PMC4689439.
  18. Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O’Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR & Hurles ME for the DDD study. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5. PMID: 26437029; PMCID: in process.
  19. Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze J-F, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW & Gordon CT. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. PMID: 26437028; PMCID: in process.
  20. Gittelman, Rachel M; Hun, Enna; Ay, Ferhat; Madeoy, Jennifer; Pennacchio, Len; Noble, William S; Hawkins, R David; Akey, Joshua M. Comprehensive identification and analysis of human accelerated regulatory DNA. Genome Res 2015 Sep; 25(9):1245-55 PMID: 26104583 PMC ID: 4561485

  21. Nobuta, Hiroko; Cilio, Maria Roberta; Danhaive, Olivier; Tsai, Hui-Hsin; Tupal, Srinivasan; Chang, Sandra M; Murnen, Alice; Kreitzer, Faith; Bravo, Verenice; Czeisler, Catherine; Gokozan, Hamza Numan; Gygli, Patrick; Bush, Sean; Weese-Mayer, Debra E; Conklin, Bruce; Yee, Siu-Pok; Huang, Eric J; Gray, Paul A; Rowitch, David; Otero, José Javier. Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathol 2015 Aug; 130(2):171-83 PMID: 25975378 PMC ID: 4503865

  22. Percival, Stefanie M; Thomas, Holly R; Amsterdam, Adam; Carroll, Andrew J; Lees, Jacqueline A; Yost, H Joseph; Parant, John M. Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome. Dis Model Mech 2015 Aug 1; 8(8):941-55 PMID: 26044958 PMC ID: 4527282 

  23. Jiang, Jianming; Burgon, Patrick G; Wakimoto, Hiroko; Onoue, Kenji; Gorham, Joshua M; O'Meara, Caitlin C; Fomovsky, Gregory; McConnell, Bradley K; Lee, Richard T; Seidman, J G; Seidman, Christine E. Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis. Proc Natl Acad Sci U S A 2015 Jul 21; 112(29):9046-51 PMID: 26153423 PMC ID: 4517252

  24. Nash, Dustin; Arrington, Cammon B; Kennedy, Brett J; Yandell, Mark; Wu, Wilfred; Zhang, Wenying; Ware, Stephanie; Jorde, Lynn B; Gruber, Peter J; Yost, H Joseph; Bowles, Neil E; Bleyl, Steven B. Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). PLoS One 2015 Jun 29; 10(6): PMID: 26121141 PMC ID: 4485409

  25. Gelb, Bruce D. History of Our Understanding of the Causes of Congenital Heart Disease. Circ Cardiovasc Genet 2015 Jun; 8(3):529-36 PMID: 26082554 PMC ID: 4870049

  26. Abou Hassan, Ossama K; Fahed, Akl C; Batrawi, Manal; Arabi, Mariam; Refaat, Marwan M; DePalma, Steven R; Seidman, J G; Seidman, Christine E; Bitar, Fadi F; Nemer, Georges M. NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Sci Rep 2015 Mar 6; 5:8848 PMID: 25742962 PMC ID: 4351524

  27. Musunuru, Kiran; Hickey, Kathleen T; Al-Khatib, Sana M; Delles, Christian; Fornage, Myriam; Fox, Caroline S; Frazier, Lorraine; Gelb, Bruce D; Herrington, David M; Lanfear, David E; Rosand, Jonathan; American Heart Association Council on Functional Genomics and Translational Biology,Council on Clinical Cardiology, Council on Cardiovascular Disease in the Young, Council on Cardiovascular and Stroke Nursing, Council on Epidemiology and Prevention, Council on Hypertension, Council on Lifestyle and Cardiometabolic Health, Council on Quality of Care and Outcomes Research, and Stroke Council. Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. Circ Cardiovasc Genet 2015 Feb; 8(1):216-42 PMID: 25561044 PMC ID: 4887701

  28. Damerla RR, Cui C, Gabriel GC, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Equether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015 Jul 15;24(14):3994-4005. doi: 10.1093/hmg/ddv137. Epub 2015 Apr 15. PMID: 25877302; PMCID: PMC4476446.

  29. Alexander JM, Hota SK, He D, Thomas S, Ho L, Pennacchio LA, Bruneau BG. Brg1 modulates enhancer activation in mesoderm lineage commitment. Development. 2015 Apr 15;142(8):1418-30. doi: 10.1242/dev.109496. Epub 2015 Mar 26. PMID: 25813539; PMCID: PMC4392595.
  30. Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR., Chang C-F, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A., Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4. doi: 10.1038/nature14269. Epub 2015 Mar 25. PMID: 25807483; PMCID: PMC4617540.
  31. Theodoris CV, Li M, White MP, Liu L, He D, Pollard KS, Bruneau BG, Srivastava D.
    Human disease modeling reveals integrated transcriptional and epigenetic mechanisms of NOTCH1 haploinsufficiency. Cell. 2015 Mar 12;160(6):1072-86. doi: 10.1016/j.cell.2015.02.035. PMID: 25768904; PMCID: PMC4359747.
  32. Czarnecki PG, Gabriel GC, Manning DK, Sergeev M, Lemke K, Klena NT, Liu X, Chen y, Li Y, San Agustin JT, Garnaas MK, Francis RJ, Tobita K, Goessling W, Pazour GJ, Lo CW, Beier DR, and Shah JV. ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning. Nat Comms, 2015, 20 Jan. DOI: 10.1038/ncomms7023. PMID: 25599650; PMCID: PMC4361001.
  33. Delgado-Olguin PD, Dang LT, He D, Thomas S, Chi L, Sukonnik T, Khyzha N, Dobenecker M-W, Fish JE, Bruneau BG. Ezh2-mediated repression of a transcriptional pathway upstream of Mmp9 maintains integrity of the developing vasculature. Development 2014; 141(23):4610-7. PMID: 25359725; PMCID: PMC4302930.
  34. Devine WP, Wythe JD, George M, Koshiba-Takeuchi K, Bruneau BG. Early patterning and specification of cardiac progenitors in gastrulating mesoderm. eLife 2014; Oct 8; 3. doi: 10.7665/eLife.03848. PMID: 25296024; PMCID: PMC4356145.
  35. Hill JT, Demarest BL, Bisgrove BW, Su YC, Smith M, Yost HJ. Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products. Dev Dyn., 2014, Dec;243(12):1632-6. doi: 10.1002/dvdy.24183. Epub 2014 Sep 30.  PMID: 25160973; PMCID: PMC4525701 [Available on 2015-12-01].
  36. Williams AG, Thomas S, Wyman SK, Holloway, AK. RNA-seq data: challenges in and recommendations for experimental design and analysis. Curr Protoc Hum Genet 2014; 83:11.13.1-11.13.20. PMID: 25271838; PMCID: PMC25271838.
  37. He A, Gu F, Hu Y, Ma Q, Ye LY, Akiyama JA, Visel A, Pennachio LA, Pu WT. Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease. Nature Comms 2014; 5;4907. PMID: 25249388; PMCID: PMC4236193.
  38. Glessner J, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia MJ, Leipzig J, DePalma S, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 2014;  115(10):884-896. PMID: 25205790; PMCID: PMC4209190.
  39. Li K, Wang G, Andersen T, Zhou P, Pu WT. Optimization of genome engineering approaches with the CRISPR/Cas9 system. PLos One 2014; 9(8):e105779. PMID: 25166277; PMCID: PMC4148324.
  40. Lyozin GT, Bressloff PC, Kumar A, Kosaka Y, Demarest BL, Yost HJ, Kuehn MR, Brunelli L. Isolation of rare recombinants without using selectable markers for one-step seamless BAC mutagenesis. Nat Methods 2014; 11(9):966-970. PMID: 25028895; PMCID: PMC4149595.
  41. Erwin GD, Oksenberg N, Truty RM, Kosta K, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. PLoS Computational Biology 2014; 10(6):e1003677. PMID: 24967590; PMCI: PMC4072507. http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.1003677.
  42. Backenroth D, Homsy J, Murillo L, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung W, Shen Y. CANOES: Detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Research 2014; 42(12):e97. PMID: 24771342; PMCID: PMC4081054.
  43. Thomas S, Underwood JG, Tseng E, Holloway AK. Long-read sequencing of chicken transcripts and identification of new transcript isoforms. PLoS One 2014; 9(4):e94650. PMID: 24736250; PMCID: PMC3988055.
  44. Oksenberg, N; Haliburton, G D E; Eckalbar, W L; Oren, I; Nishizaki, S; Murphy, K; Pollard, K S; Birnbaum, R Y; Ahituv, N. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry 2014 Sep 2; 4:e431  PMID: 25180570 PMC ID: 4199417

  45. Gelb, Bruce D; Chung, Wendy K. Complex genetics and the etiology of human congenital heart disease. Cold Spring Harb Perspect Med 2014 Jul 1; 4(7):a013953 PMID: 24985128 PMC ID: 4066638

  46. Dickel DE, Zhu Y, Nord AS, Wylie JN, Akiyama JA, Afzal V, Plajzer-Frick I, Kirkpatrick A, Gottgens B, Bruneau BG, Visel A, Pennacchio LA. Function-based identification of mammalian enhancers using site-specific integration. Nat Methods 2014; 11(5):566-571. PMID: 24658141; PMCID: PMC4008384.
  47. Damerla RR, Chatterjee B, Li Y, Francis JB, Fatakia SN, Lo CW. Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis. Mamm Genome 2014; 25(3-4):120-128. PMID: 24306492; NIHMSID: NIHMS546518.
  48. Liu X, Francis R, Kim A, Ramirez R, Chen G, Subramanian R, Anderton S, Kim Y, Wang L, Morgan J, Pratt CH, Reinholdt L, Devine W, Leatherbury L, Tobita K, Lo CW. Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen. Circ Cardiovasc Imaging 2014; 7(1):31-42. PMID: 24319090; PMCID: PMC3962690.
  49. Cui C, Chatterjee B, Lozito TP, Zhang Z, Francis RJ, Yagi H, Swanhart LM, Sanker S, Francis D, Yu Q, San Agustin JT, Puligilla C, Chatterjee T, Tansey T, Liu X, Kelley MW, Spiliotis ET, Kwiatkowski AV, Tuan R, Pazour GJ, Hukriede NA, Lo CW. Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol 2013; 11(11):e1001720. PMID: 24302887; PMCID: PMC3841097.
  50. Worringer KA, Rand TA, Hayashi Y, Sami S, Takahashi K, Tanabe K, Narita M, Srivastava D, Yamanaka S. The let-7/LIN-41 pathway regulates reprogramming to human induced pluripotent stem cells by controlling expression of prodifferentiation genes. Cell Stem Cell 2013; 14(1):40-52. PMID: 24239284; PMCID: NIHMSID: NIHMS538439.
  51. Capra JA, Erwin GD, McKinsey G, Rubenstein JLR, Pollard KS. Many human accelerated regions are developmental enhancers. Philos Trans R Soc Lond B Biol Sci 2013; 368(1632):20130025. PMID: 24218637; PMCID: PMC3826498.
  52. Schröder S, Herker E, Itzen F, He D, Thomas S, Gilchrist DA, Kaehlcke K, Cho S, Pollard KS, Capra JA, Schnölzer M, Cole PA, Geyer M, Bruneau BG, Adelan K, Ott M. Acetylation of RNA polymerase II regulates growth factor-induced gene transcription in mammalian cells. Mol Cell 2013; 52(3):314-324. PMID: 24207025; NIHMSID: NIHMS562451.
  53. Brown JR, Zetsche B, Jackson-Grusby L. RUSH & CRUSH: a rapid and conditional RNA interference method in mice. Genesis 2014; 52(1):39-48. PMID: 24166816; PMCID: PMC3985430.
  54. Jiang J, Wakimoto H, Seidman JG, Seidman CE. Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science 2013; 342(6154):111-114. PMID: 24092743; PMCID: PMC4100553.
  55. Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med 2013; 15(10):824-832. PMID: 24071794; PMCID: PMC3951437.
  56. Lui KO, Zangi L, Silva EA, Bu L, Sahara M, Li RA, Mooney DJ, Chien KR. Driving vascular endothelial cell fate of human multipotent Isl1+ heart progenitors with VEGF modified mRNA. Cell Res 2013; 23(10):1172-1186. PMID: 24018375; PMCID: PMC3790234.
  57. Zhou P, Zhang Y, Ma Q, Gu F, Day DS, He A, Zhou B, Li J, Stevens S, Romo D, Park PJ, Pu WT. Interrogating translational efficiency and lineage-specific transcriptomes using ribosome affinity purification. Proc Natl Acad Sci U S A 2013; 110(38):15395-15400. PMID: 24003143; PMCID: PMC3780890.
  58. Srivastava D, Berry EC. Cardiac reprogramming: from mouse toward man. Curr Opin Genet 2013; 23(5):574-578. PMID: 23993230; PMCID: PMC3782415.
  59. Francis R, Lo C. Ex vivo method for high resolution imaging of cilia motility in rodent airway epithelia. J Vis Exp. 2013; (78), e50343. PMID: 23963287; PMCID: Unavailable - Video article.
  60. Capra JA, Stolzer M, Durand D, Pollard KS. How old is my gene? Trends Genet 2013; 29(11):659–668. PMID: 23915718; PMCID: PMC3812327.
  61. Liu X, Tobita K, Francis RJ, Lo CW. Imaging techniques for visualizing and phenotyping congenital heart defects in murine models. Birth Defects Res C Embryo Today 2013 Jun; 99(2):93-105. PMID: 23897594; PMCID: PMC3962687.
  62. Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJF, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, UK10K16, Roepman R, Zariwala M, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nature Genetics 2013; 45(9):995-1003; PMID: 23872636; PMCID: PMC4000444.
  63. Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. A compact, in vivo screen of all 6-mers revelas drivers of tissue-specific expression and guides synthetic regulatory element design. Genome Biology 2013; 14(7):R72. PMID: 23867016; NIHMSID: NIHMS512991.
  64. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Koehler G, Haeffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo C, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 2013; 93(2):357-367. PMID: 23849778; PMCID: PMC3738828.
  65. Wythe JD, Dang LTH, Devine WP, Boudreau E, Artap ST, He D, Schachterle W, Stainier DYR, Oettgen P, Black BL, Bruneau BG, Fish JE. ETS factors regulate Vegf-dependent arterial specification. Dev Cell 2013; 26(1):45-58. PMID: 23830865; PMCID: PMC3754838.
  66. Subramanian S, Di Pierro V, Shah H, Jayaprakash AD, Weisberger I, Shim J, George A, Gelb BD, Sachidanandam R. MiST: a new approach to variant detection in deep sequencing datasets. Nucleic Acids Res 2013; 41(16):e154. PMID: 23828039; PMCID: PMC3763541.
  67. Eminaga S, Christodoulou DC, Vigneault F, Church GM, Seidman JG. Quantification of microRNA expression with next-generation sequencing. Curr Protoc Mol Biol 2013; Chapter 4:Unit 4.17. PMID: 23821442; NIHMSID: NIHMS506236.
  68. Yuan S, Zaidi S, Brueckner M. Congenital heart disease: emerging themes linking genetics and development. Curr Opin Genet Dev 2013; 23(3):352-359. PMID: 23790954; PMCID: PMC Journal in process.
  69. Kim AJ, Francis R, Liu X, Devine WA, Ramirez R, Anderton SJ, Wong LY, Faruque F, Gabriel GC, Chung W, Leatherbury L, Tobita K, Lo CW. Microcomputed tomography provides high accuracy congenital heart disease diagnosis in neonatal and fetal mice. Cir Cardiovasc Imaging 2013; 6(4):551-559. PMID: 23759365; PMCID: 505948.
  70. Scheuermann JC; Boyer LA. Getting to the heart of the matter: long non-coding RNAs in cardiac development and disease. EMBO J 2013; 32(13):1805-1816; PMID: 23756463; PMCID:PMC3981183.
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  72. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts A, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone modifying genes in congenital heart disease. Nature 2013; 498(7453):220-223. PMID: 23665959; PMCID: PMC2706629.
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