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CHAD A. SHAW

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressOne Baylor Plaza, 334D
Houston TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Hause AM, Henke DM, Avadhanula V, Shaw CA, Tapia LI, Piedra PA. Correction: Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B. PLoS One. 2017; 12(6):e0180623. PMID: 28658276.
      View in: PubMed
    2. Neelakantan D, Zhou H, Oliphant MUJ, Zhang X, Simon LM, Henke DM, Shaw CA, Wu MF, Hilsenbeck SG, White LD, Lewis MT, Ford HL. EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells. Nat Commun. 2017 Jun 12; 8:15773. PMID: 28604738.
      View in: PubMed
    3. Xu X, De Angelis C, Burke KA, Nardone A, Hu H, Qin L, Veeraraghavan J, Sethunath V, Heiser LM, Wang NJ, Ng CKY, Chen E, Renwick A, Wang T, Nanda S, Shea M, Mitchell T, Rajendran M, Waters I, Zabransky DJ, Scott KL, Gutierrez C, Nagi C, Geyer FC, Chamness GC, Park BH, Shaw C, Hilsenbeck SG, Rimawi MF, Gray JW, Weigelt B, Reis-Filho JS, Osborne CK, Schiff R. HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer. Clin Cancer Res. 2017 May 09. PMID: 28487443.
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    4. Hause AM, Henke DM, Avadhanula V, Shaw CA, Tapia LI, Piedra PA. Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B. PLoS One. 2017; 12(4):e0175792. PMID: 28414749.
      View in: PubMed
    5. Kong X, Simon LM, Holinstat M, Shaw CA, Bray PF, Edelstein LC. Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP. Thromb Haemost. 2017 Mar 02. PMID: 28251237.
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    6. Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 Feb 23; 168(5):830-842.e7. PMID: 28235197.
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    7. Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19; 371(1710). PMID: 27821535.
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    8. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CM, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2016 Dec 14. PMID: 27980096.
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    9. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697.
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    10. Chaudhury A, Cheema S, Fachini JM, Kongchan N, Lu G, Simon LM, Wang T, Mao S, Rosen DG, Ittmann MM, Hilsenbeck SG, Shaw CA, Neilson JR. CELF1 is a central node in post-transcriptional regulatory programmes underlying EMT. Nat Commun. 2016 Nov 21; 7:13362. PMID: 27869122.
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    11. Kølvraa S, Singh R, Normand EA, Qdaisat S, van den Veyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Dec; 36(12):1127-1134. PMID: 27761919.
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    12. Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, Reymond A. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 Nov 01; 8(1):105. PMID: 27799067.
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    13. Belmont JW, Shaw CA. Clinical bioinformatics: emergence of a new laboratory discipline. Expert Rev Mol Diagn. 2016 Oct 7. PMID: 27715336.
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    14. Hasegawa K, Mansbach JM, Ajami NJ, Espinola JA, Henke DM, Petrosino JF, Piedra PA, Shaw CA, Sullivan AF, Camargo CA. Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis. Eur Respir J. 2016 Nov; 48(5):1329-1339. PMID: 27799386.
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    15. Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Sep 12. PMID: 27616633.
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    16. Franco LM, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA. Correction: Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2016 Aug 30; 5. PMID: 27576045.
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    17. Normand E, Qdaisat S, Bi W, Shaw C, Van den Veyver I, Beaudet A, Breman A. Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30. PMID: 27368744.
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    18. Simon LM, Chen ES, Edelstein LC, Kong X, Bhatlekar S, Rigoutsos I, Bray PF, Shaw CA. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. Am J Hum Genet. 2016 May 5; 98(5):883-97. PMID: 27132591; PMCID: PMC4863560 [Available on 11/05/16].
    19. Mansbach JM, Hasegawa K, Henke DM, Ajami NJ, Petrosino JF, Shaw CA, Piedra PA, Sullivan AF, Espinola JA, Camargo CA. Respiratory syncytial virus and rhinovirus severe bronchiolitis are associated with distinct nasopharyngeal microbiota. J Allergy Clin Immunol. 2016 Jun; 137(6):1909-1913.e4. PMID: 27061249; PMCID: PMC4899255 [Available on 06/01/17].
    20. Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nat Genet. 2016 Mar 29; 48(4):473. PMID: 27023775.
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    21. James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016; 8(1):13. PMID: 26838676; PMCID: PMC4736244.
    22. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 Jul; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996 [Available on 01/01/17].
    23. Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, R Perdeaux E, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nat Genet. 2015 Dec; 47(12):1471-4. PMID: 26551668.
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    24. Zhou Y, Abraham S, Andre P, Edelstein LC, Shaw CA, Dangelmaier CA, Tsygankov AY, Kunapuli SP, Bray PF, McKenzie SE. Anti-miR-148a regulates platelet Fc?RIIA signaling and decreases thrombosis in vivo in mice. Blood. 2015 Dec 24; 126(26):2871-81. PMID: 26516227.
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    25. Baldwin PR, Curtis KN, Patriquin MA, Wolf V, Viswanath H, Shaw C, Sakai Y, Salas R. Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder. Autism Res. 2016 May; 9(5):553-62. PMID: 26451751.
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    26. Villanueva H, Visbal AP, Obeid NF, Ta AQ, Faruki AA, Wu MF, Hilsenbeck SG, Shaw CA, Yu P, Plummer NW, Birnbaumer L, Lewis MT. An essential role for G?(i2) in Smoothened-stimulated epithelial cell proliferation in the mammary gland. Sci Signal. 2015 Sep 15; 8(394):ra92. PMID: 26373672.
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    27. Hsu TY, Simon LM, Neill NJ, Marcotte R, Sayad A, Bland CS, Echeverria GV, Sun T, Kurley SJ, Tyagi S, Karlin KL, Dominguez-Vidaña R, Hartman JD, Renwick A, Scorsone K, Bernardi RJ, Skinner SO, Jain A, Orellana M, Lagisetti C, Golding I, Jung SY, Neilson JR, Zhang XH, Cooper TA, Webb TR, Neel BG, Shaw CA, Westbrook TF. The spliceosome is a therapeutic vulnerability in MYC-driven cancer. Nature. 2015 Sep 17; 525(7569):384-8. PMID: 26331541.
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    28. Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 Aug 14; 349(6249):742-7. PMID: 26273056.
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    29. Zhai Y, Franco LM, Atmar RL, Quarles JM, Arden N, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Shaw CA, Belmont JW, Couch RB. Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study. PLoS Pathog. 2015 Jun; 11(6):e1004869. PMID: 26070066.
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    30. Qayyum R, Becker LC, Becker DM, Faraday N, Yanek LR, Leal SM, Shaw C, Mathias R, Suktitipat B, Bray PF. Genome-wide association study of platelet aggregation in African Americans. BMC Genet. 2015; 16:58. PMID: 26024889.
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    31. Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77. PMID: 25908615.
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    32. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92. PMID: 25910407.
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    33. Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14. PMID: 25870282; PMCID: PMC4418849.
    34. Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 2; 96(4):555-64. PMID: 25799105; PMCID: PMC4385179.
    35. Londin E, Loher P, Telonis AG, Quann K, Clark P, Jing Y, Hatzimichael E, Kirino Y, Honda S, Lally M, Ramratnam B, Comstock CE, Knudsen KE, Gomella L, Spaeth GL, Hark L, Katz LJ, Witkiewicz A, Rostami A, Jimenez SA, Hollingsworth MA, Yeh JJ, Shaw CA, McKenzie SE, Bray P, Nelson PT, Zupo S, Van Roosbroeck K, Keating MJ, Calin GA, Yeo C, Jimbo M, Cozzitorto J, Brody JR, Delgrosso K, Mattick JS, Fortina P, Rigoutsos I. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- and tissue-specific microRNAs. Proc Natl Acad Sci U S A. 2015 Mar 10; 112(10):E1106-15. PMID: 25713380; PMCID: PMC4364231.
    36. Shaw CA, Campbell IM. Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Med. 2015; 7(1):4. PMID: 25632303; PMCID: PMC4308929.
    37. Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015 Feb 27; 43(4):2188-98. PMID: 25613453; PMCID: PMC4344489.
    38. Giuliano M, Herrera S, Christiny P, Shaw C, Creighton CJ, Mitchell T, Bhat R, Zhang X, Mao S, Dobrolecki LE, Al-rawi A, Chen F, Veneziani BM, Zhang XH, Hilsenbeck SG, Contreras A, Gutierrez C, Jeselsohn RM, Rimawi MF, Osborne CK, Lewis MT, Schiff R, Trivedi MV. Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis. Breast Cancer Res. 2015; 17:3. PMID: 25572662; PMCID: PMC4318479.
    39. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol. 2014 Dec; 178(3):459-69. PMID: 25046553; PMCID: PMC4238873.
    40. Karlin KL, Mondal G, Hartman JK, Tyagi S, Kurley SJ, Bland CS, Hsu TY, Renwick A, Fang JE, Migliaccio I, Callaway C, Nair A, Dominguez-Vidana R, Nguyen DX, Osborne CK, Schiff R, Yu-Lee LY, Jung SY, Edwards DP, Hilsenbeck SG, Rosen JM, Zhang XH, Shaw CA, Couch FJ, Westbrook TF. The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor. Cell Rep. 2014 Nov 20; 9(4):1318-32. PMID: 25453754; PMCID: PMC4427000.
    41. Edelstein LC, Simon LM, Lindsay CR, Kong X, Teruel-Montoya R, Tourdot BE, Chen ES, Ma L, Coughlin S, Nieman M, Holinstat M, Shaw CA, Bray PF. Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race. Blood. 2014 Nov 27; 124(23):3450-8. PMID: 25293779; PMCID: PMC4246040.
    42. Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biol. 2014; 12:74. PMID: 25246103; PMCID: PMC4195946.
    43. Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 Oct 2; 95(4):345-59. PMID: 25242496; PMCID: PMC4185125.
    44. Campbell IM, James RA, Chen ES, Shaw CA. NetComm: a network analysis tool based on communicability. Bioinformatics. 2014 Dec 1; 30(23):3387-9. PMID: 25123899; PMCID: PMC4274347.
    45. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wi?niowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 7; 95(2):173-82. PMID: 25087610; PMCID: PMC4129404.
    46. Teruel-Montoya R, Kong X, Abraham S, Ma L, Kunapuli SP, Holinstat M, Shaw CA, McKenzie SE, Edelstein LC, Bray PF. MicroRNA expression differences in human hematopoietic cell lineages enable regulated transgene expression. PLoS One. 2014; 9(7):e102259. PMID: 25029370; PMCID: PMC4100820.
    47. Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL. CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15. PMID: 24986919; PMCID: PMC4204772.
    48. Putluri N, Maity S, Kommagani R, Kommangani R, Creighton CJ, Putluri V, Chen F, Nanda S, Bhowmik SK, Terunuma A, Dorsey T, Nardone A, Fu X, Shaw C, Sarkar TR, Schiff R, Lydon JP, O'Malley BW, Ambs S, Das GM, Michailidis G, Sreekumar A. Pathway-centric integrative analysis identifies RRM2 as a prognostic marker in breast cancer associated with poor survival and tamoxifen resistance. Neoplasia. 2014 May; 16(5):390-402. PMID: 25016594; PMCID: PMC4198742.
    49. Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics. 2014; 7:19. PMID: 24755370; PMCID: PMC4021669.
    50. Tapia LI, Shaw CA, Aideyan LO, Jewell AM, Dawson BC, Haq TR, Piedra PA. Gene sequence variability of the three surface proteins of human respiratory syncytial virus (HRSV) in Texas. PLoS One. 2014; 9(3):e90786. PMID: 24625544; PMCID: PMC3953119.
    51. Londin ER, Hatzimichael E, Loher P, Edelstein L, Shaw C, Delgrosso K, Fortina P, Bray PF, McKenzie SE, Rigoutsos I. The human platelet: strong transcriptome correlations among individuals associate weakly with the platelet proteome. Biol Direct. 2014; 9:3. PMID: 24524654; PMCID: PMC3937023.
    52. Simon LM, Edelstein LC, Nagalla S, Woodley AB, Chen ES, Kong X, Ma L, Fortina P, Kunapuli S, Holinstat M, McKenzie SE, Dong JF, Shaw CA, Bray PF. Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics. Blood. 2014 Apr 17; 123(16):e37-45. PMID: 24523238; PMCID: PMC3990915.
    53. Yu P, Shaw CA. An efficient algorithm for accurate computation of the Dirichlet-multinomial log-likelihood function. Bioinformatics. 2014 Jun 1; 30(11):1547-54. PMID: 24519380; PMCID: PMC4081639.
    54. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78. PMID: 24398791; PMCID: PMC4350600.
    55. Bartnik M, Nowakowska B, Derwi?ska K, Wi?niowiecka-Kowalnik B, K?dzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Ka?mierczak A, Klapecki J, Szcza?uba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014 Feb; 55(1):125-44. PMID: 24297458; PMCID: PMC3909616.
    56. Edelstein LC, Simon LM, Montoya RT, Holinstat M, Chen ES, Bergeron A, Kong X, Nagalla S, Mohandas N, Cohen DE, Dong JF, Shaw C, Bray PF. Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c. Nat Med. 2013 Dec; 19(12):1609-16. PMID: 24216752; PMCID: PMC3855898.
    57. Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797. PMID: 24086149; PMCID: PMC3784560.
    58. Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct; 161A(10):2487-94. PMID: 23918653; PMCID: PMC3788034.
    59. Shaw CA, Li Y, Tomljenovic L. Administration of aluminium to neonatal mice in vaccine-relevant amounts is associated with adverse long term neurological outcomes. J Inorg Biochem. 2013 Nov; 128:237-44. PMID: 23932735.
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    60. Franco LM, Bucasas KL, Wells JM, Niño D, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA. Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013; 2:e00299. PMID: 23878721; PMCID: PMC3713456.
    61. Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. Eur J Med Genet. 2013 Sep; 56(9):475-83. PMID: 23832106.
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    62. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 8; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
    63. Zhang X, Claerhout S, Prat A, Dobrolecki LE, Petrovic I, Lai Q, Landis MD, Wiechmann L, Schiff R, Giuliano M, Wong H, Fuqua SW, Contreras A, Gutierrez C, Huang J, Mao S, Pavlick AC, Froehlich AM, Wu MF, Tsimelzon A, Hilsenbeck SG, Chen ES, Zuloaga P, Shaw CA, Rimawi MF, Perou CM, Mills GB, Chang JC, Lewis MT. A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res. 2013 Aug 1; 73(15):4885-97. PMID: 23737486; PMCID: PMC3732575.
    64. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87. PMID: 23695279; PMCID: PMC3865406.
    65. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. PMID: 23685542; PMCID: PMC3759716.
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    108. Snyder LR, Cruz-Aguado R, Sadilek M, Galasko D, Shaw CA, Montine TJ. Lack of cerebral bmaa in human cerebral cortex. Neurology. 2009 Apr 14; 72(15):1360-1. PMID: 19365059; PMCID: PMC2677491.
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    126. Chambers SM, Boles NC, Lin KY, Tierney MP, Bowman TV, Bradfute SB, Chen AJ, Merchant AA, Sirin O, Weksberg DC, Merchant MG, Fisk CJ, Shaw CA, Goodell MA. Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell. 2007 Nov; 1(5):578-91. PMID: 18371395; PMCID: PMC2475548.
    127. Visel A, Carson J, Oldekamp J, Warnecke M, Jakubcakova V, Zhou X, Shaw CA, Alvarez-Bolado G, Eichele G. Regulatory pathway analysis by high-throughput in situ hybridization. PLoS Genet. 2007 Oct; 3(10):1867-83. PMID: 17953485; PMCID: PMC2041993.
    128. Kung TA, Egbejimi O, Cui J, Ha NP, Durgan DJ, Essop MF, Bray MS, Shaw CA, Hardin PE, Stanley WC, Young ME. Rapid attenuation of circadian clock gene oscillations in the rat heart following ischemia-reperfusion. J Mol Cell Cardiol. 2007 Dec; 43(6):744-53. PMID: 17959196; PMCID: PMC2699675.
    129. Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53. PMID: 17701891; PMCID: PMC1950845.
    130. Chambers SM, Shaw CA, Gatza C, Fisk CJ, Donehower LA, Goodell MA. Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol. 2007 Aug; 5(8):e201. PMID: 17676974; PMCID: PMC1925137.
    131. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 1; 143A(15):1679-86. PMID: 17607705.
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    132. Durgan DJ, Moore MW, Ha NP, Egbejimi O, Fields A, Mbawuike U, Egbejimi A, Shaw CA, Bray MS, Nannegari V, Hickson-Bick DL, Heird WC, Dyck JR, Chandler MP, Young ME. Circadian rhythms in myocardial metabolism and contractile function: influence of workload and oleate. Am J Physiol Heart Circ Physiol. 2007 Oct; 293(4):H2385-93. PMID: 17616739.
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    133. Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65. PMID: 17506108.
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    134. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. PMID: 17522620.
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    135. Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182. PMID: 17535104; PMCID: PMC1880853.
    136. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007; 2(3):e327. PMID: 17389918; PMCID: PMC1828620.
    137. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49. PMID: 17357070; PMCID: PMC1852712.
    138. Kustikova OS, Geiger H, Li Z, Brugman MH, Chambers SM, Shaw CA, Pike-Overzet K, de Ridder D, Staal FJ, von Keudell G, Cornils K, Nattamai KJ, Modlich U, Wagemaker G, Goodell MA, Fehse B, Baum C. Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood. 2007 Mar 1; 109(5):1897-907. PMID: 17119121; PMCID: PMC1801061.
    139. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
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    140. Ramos CA, Bowman TA, Boles NC, Merchant AA, Zheng Y, Parra I, Fuqua SA, Shaw CA, Goodell MA. Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. PLoS Genet. 2006 Sep 29; 2(9):e159. PMID: 17009876; PMCID: PMC1584276.
    141. Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48. PMID: 16899659; PMCID: PMC1557768.
    142. El-Serag HB, Nurgalieva Z, Souza RF, Shaw C, Darlington G. Is genomic evaluation feasible in endoscopic studies of Barrett's esophagus? A pilot study. Gastrointest Endosc. 2006 Jul; 64(1):17-26. PMID: 16813797.
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    143. Ou Z, Jarmuz M, Sparagana SP, Michaud J, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37. PMID: 16791615.
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    144. Durgan DJ, Trexler NA, Egbejimi O, McElfresh TA, Suk HY, Petterson LE, Shaw CA, Hardin PE, Bray MS, Chandler MP, Chow CW, Young ME. The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids. J Biol Chem. 2006 Aug 25; 281(34):24254-69. PMID: 16798731.
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    145. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65. PMID: 16774974.
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    146. Yu W, Wang Y, Shaw CA, Qin XF, Rice AP. Induction of the HIV-1 Tat co-factor cyclin T1 during monocyte differentiation is required for the regulated expression of a large portion of cellular mRNAs. Retrovirology. 2006; 3:32. PMID: 16764723; PMCID: PMC1557533.
    147. Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14. PMID: 16713569.
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    148. Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A. 2005 Dec 1; 139A(2):106-13. PMID: 16284940.
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    149. Behbod F, Xian W, Shaw CA, Hilsenbeck SG, Tsimelzon A, Rosen JM. Transcriptional profiling of mammary gland side population cells. Stem Cells. 2006 Apr; 24(4):1065-74. PMID: 16282442.
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    150. Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1; 14(23):3723-40. PMID: 16254002.
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    151. Sinnreich M, Shaw CA, Pari G, Nalbantoglu J, Holland PC, Karpati G. Localization of coxsackie virus and adenovirus receptor (CAR) in normal and regenerating human muscle. Neuromuscul Disord. 2005 Aug; 15(8):541-8. PMID: 16014330.
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    152. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32. PMID: 16024975.
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    153. Durgan DJ, Hotze MA, Tomlin TM, Egbejimi O, Graveleau C, Abel ED, Shaw CA, Bray MS, Hardin PE, Young ME. The intrinsic circadian clock within the cardiomyocyte. Am J Physiol Heart Circ Physiol. 2005 Oct; 289(4):H1530-41. PMID: 15937094.
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    154. Agbemafle BM, Oesterreicher TJ, Shaw CA, Henning SJ. Immediate early genes of glucocorticoid action on the developing intestine. Am J Physiol Gastrointest Liver Physiol. 2005 May; 288(5):G897-906. PMID: 15826934.
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    155. Wilson JM, Petrik MS, Moghadasian MH, Shaw CA. Examining the interaction of apo E and neurotoxicity on a murine model of ALS-PDC. Can J Physiol Pharmacol. 2005 Feb; 83(2):131-41. PMID: 15791286.
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    156. Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet. 2005 Feb; 13(2):139-49. PMID: 15483646.
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    157. Xu Q, Ibarra M, Mahadeo D, Shaw C, Huang E, Kuspa A, Cotter D, Shaulsky G. Transcriptional transitions during Dictyostelium spore germination. Eukaryot Cell. 2004 Oct; 3(5):1101-10. PMID: 15470238; PMCID: PMC522591.
    158. Venezia TA, Merchant AA, Ramos CA, Whitehouse NL, Young AS, Shaw CA, Goodell MA. Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol. 2004 Oct; 2(10):e301. PMID: 15459755; PMCID: PMC520599.
    159. Katoh M, Shaw C, Xu Q, Van Driessche N, Morio T, Kuwayama H, Obara S, Urushihara H, Tanaka Y, Shaulsky G. An orderly retreat: Dedifferentiation is a regulated process. Proc Natl Acad Sci U S A. 2004 May 4; 101(18):7005-10. PMID: 15103019; PMCID: PMC406456.
    160. Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7. PMID: 15098121.
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    161. Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004 Feb; 41(2):113-9. PMID: 14757858; PMCID: PMC1735660.
    162. Kibler K, Svetz J, Nguyen TL, Shaw C, Shaulsky G. A cell-adhesion pathway regulates intercellular communication during Dictyostelium development. Dev Biol. 2003 Dec 15; 264(2):506-21. PMID: 14651934.
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    163. Kibler K, Nguyen TL, Svetz J, Van Driessche N, Ibarra M, Thompson C, Shaw C, Shaulsky G. A novel developmental mechanism in Dictyostelium revealed in a screen for communication mutants. Dev Biol. 2003 Jul 15; 259(2):193-208. PMID: 12871696.
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    164. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet. 2003 Sep 1; 12(17):2153-65. PMID: 12915474.
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    165. Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet. 2003 Sep 1; 12(17):2145-52. PMID: 12915473.
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    166. Good JR, Cabral M, Sharma S, Yang J, Van Driessche N, Shaw CA, Shaulsky G, Kuspa A. TagA, a putative serine protease/ABC transporter of Dictyostelium that is required for cell fate determination at the onset of development. Development. 2003 Jul; 130(13):2953-65. PMID: 12756178.
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    167. Yao H, Kristensen DM, Mihalek I, Sowa ME, Shaw C, Kimmel M, Kavraki L, Lichtarge O. An accurate, sensitive, and scalable method to identify functional sites in protein structures. J Mol Biol. 2003 Feb 7; 326(1):255-61. PMID: 12547207.
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    168. Shaw CA. Theoretical consideration of amplification strategies. Neurochem Res. 2002 Oct; 27(10):1123-31. PMID: 12462410.
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    169. Olofsson P, Shaw CA. Exact sampling formulas for multi-type Galton-Watson processes. J Math Biol. 2002 Oct; 45(4):279-93. PMID: 12373340.
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    170. Van Driessche N, Shaw C, Katoh M, Morio T, Sucgang R, Ibarra M, Kuwayama H, Saito T, Urushihara H, Maeda M, Takeuchi I, Ochiai H, Eaton W, Tollett J, Halter J, Kuspa A, Tanaka Y, Shaulsky G. A transcriptional profile of multicellular development in Dictyostelium discoideum. Development. 2002 Apr; 129(7):1543-52. PMID: 11923193.
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