Harvard Catalyst Profiles

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Laura Eleanor MacConaill, Ph.D.

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Research
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  1. R33CA155554 (GARRAWAY, LEVI ALEXANDER) Sep 20, 2011 - Aug 31, 2014
    NIH/NCI
    High-Throughput Tumor Genomic Profiling by Massively Parallel Sequencing
    Role: Co-Principal Investigator

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Starrett GJ, Thakuria M, Chen T, Marcelus C, Cheng J, Nomburg J, Thorner AR, Slevin MK, Powers W, Burns RT, Perry C, Piris A, Kuo FC, Rabinowits G, Giobbie-Hurder A, MacConaill LE, DeCaprio JA. Clinical and molecular characterization of virus-positive and virus-negative Merkel cell carcinoma. Genome Med. 2020 Mar 18; 12(1):30. PMID: 32188490.
    Citations:    
  2. Slevin MK, Wollison BM, Powers W, Burns RT, Patel N, Ducar MD, Starrett GJ, Garcia EP, Manning DK, Cheng J, Hanna GJ, Kaye KM, Van Hummelen P, Nag A, Thorner AR, DeCaprio JA, MacConaill LE. ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome. J Mol Diagn. 2020 Feb 15. PMID: 32068070.
    Citations:    
  3. Barroso-Sousa R, Keenan TE, Pernas S, Exman P, Jain E, Garrido-Castro AC, Hughes M, Bychkovsky B, Umeton R, Files JL, Lindeman NI, MacConaill LE, Hodi FS, Krop IE, Dillon D, Winer EP, Wagle N, Lin NU, Mittendorf EA, Van Allen EM, Tolaney SM. Tumor Mutational Burden and PTEN Alterations as Molecular Correlates of Response to PD-1/L1 Blockade in Metastatic Triple-Negative Breast Cancer. Clin Cancer Res. 2020 Feb 04. PMID: 32019858.
    Citations:    
  4. Mirkovic J, Dong F, Sholl LM, Garcia E, Lindeman N, MacConaill L, Crum CP, Nucci MR, McCluggage WG, Howitt BE. Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO). Int J Gynecol Pathol. 2019 Nov; 38(6):543-551. PMID: 30134342.
    Citations:    Fields:    
  5. Christakis AG, Papke DJ, Nowak JA, Yurgelun MB, Agoston AT, Lindeman NI, MacConaill LE, Sholl LM, Dong F. Targeted Cancer Next-Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers. Cancer Epidemiol Biomarkers Prev. 2019 07; 28(7):1246-1251. PMID: 31028081.
    Citations:    
  6. Kacew AJ, Harris EJ, Lorch JH, Haddad RI, Chau NG, Rabinowits G, LeBoeuf NR, Schmults CD, Thakuria M, MacConaill LE, Hanna GJ. Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. Eur J Cancer. 2019 May; 113:1-9. PMID: 30954880.
    Citations:    
  7. Barretina J, Caponigro G, Stransky N, Venkatesan K, Margolin AA, Kim S, Wilson CJ, Lehár J, Kryukov GV, Sonkin D, Reddy A, Liu M, Murray L, Berger MF, Monahan JE, Morais P, Meltzer J, Korejwa A, Jané-Valbuena J, Mapa FA, Thibault J, Bric-Furlong E, Raman P, Shipway A, Engels IH, Cheng J, Yu GK, Yu J, Aspesi P, de Silva M, Jagtap K, Jones MD, Wang L, Hatton C, Palescandolo E, Gupta S, Mahan S, Sougnez C, Onofrio RC, Liefeld T, MacConaill L, Winckler W, Reich M, Li N, Mesirov JP, Gabriel SB, Getz G, Ardlie K, Chan V, Myer VE, Weber BL, Porter J, Warmuth M, Finan P, Harris JL, Meyerson M, Golub TR, Morrissey MP, Sellers WR, Schlegel R, Garraway LA. Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature. 2019 01; 565(7738):E5-E6. PMID: 30559381.
    Citations:    Fields:    
  8. Hamid AA, Gray KP, Shaw G, MacConaill LE, Evan C, Bernard B, Loda M, Corcoran NM, Van Allen EM, Choudhury AD, Sweeney CJ. Compound Genomic Alterations of TP53, PTEN, and RB1 Tumor Suppressors in Localized and Metastatic Prostate Cancer. Eur Urol. 2019 Jul; 76(1):89-97. PMID: 30553611.
    Citations:    
  9. Hanna GJ, Kacew A, Chau NG, Shivdasani P, Lorch JH, Uppaluri R, Haddad RI, MacConaill LE. Improved outcomes in PI3K-pathway-altered metastatic HPV oropharyngeal cancer. JCI Insight. 2018 09 06; 3(17). PMID: 30185662.
    Citations:    Fields:    
  10. Craig JW, Quade BJ, Muto MG, MacConaill LE. Endometrial cancer with an EML4-ALK rearrangement. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). PMID: 30068733.
    Citations:    Fields:    
  11. Papke DJ, Nowak JA, Yurgelun MB, Frieden A, Srivastava A, Lindeman NI, Sholl LM, MacConaill LE, Dong F. Validation of a targeted next-generation sequencing approach to detect mismatch repair deficiency in colorectal adenocarcinoma. Mod Pathol. 2018 12; 31(12):1882-1890. PMID: 29955144.
    Citations:    Fields:    
  12. Kolin DL, Dong F, Baltay M, Lindeman N, MacConaill L, Nucci MR, Crum CP, Howitt BE. SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. Mod Pathol. 2018 09; 31(9):1442-1456. PMID: 29700418.
    Citations:    Fields:    
  13. Hanna GJ, Lizotte P, Cavanaugh M, Kuo FC, Shivdasani P, Frieden A, Chau NG, Schoenfeld JD, Lorch JH, Uppaluri R, MacConaill LE, Haddad RI. Frameshift events predict anti-PD-1/L1 response in head and neck cancer. JCI Insight. 2018 02 22; 3(4). PMID: 29467336.
    Citations: 3     Fields:    
  14. Mirkovic J, McFarland M, Garcia E, Sholl LM, Lindeman N, MacConaill L, Dong F, Hirsch M, Nucci MR, Quick CM, Crum CP, McCluggage WG, Howitt BE. Targeted Genomic Profiling Reveals Recurrent KRAS Mutations in Mesonephric-like Adenocarcinomas of the Female Genital Tract. Am J Surg Pathol. 2018 02; 42(2):227-233. PMID: 28984674.
    Citations:    Fields:    
  15. MacConaill LE, Burns RT, Nag A, Coleman HA, Slevin MK, Giorda K, Light M, Lai K, Jarosz M, McNeill MS, Ducar MD, Meyerson M, Thorner AR. Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing. BMC Genomics. 2018 01 08; 19(1):30. PMID: 29310587.
    Citations: 1     Fields:    Translation:Humans
  16. Busch EL, Hornick JL, Umeton R, Albayrak A, Lindeman NI, MacConaill LE, Garcia EP, Ducar M, Rebbeck TR. Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites. Oncotarget. 2017 Oct 17; 8(49):85680-85691. PMID: 29156750.
    Citations: 1     Fields:    
  17. Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 01; 19(7):986-996. PMID: 28104717.
    Citations: 5     Fields:    Translation:Humans
  18. Bi WL, Greenwald NF, Ramkissoon SH, Abedalthagafi M, Coy SM, Ligon KL, Mei Y, MacConaill L, Ducar M, Min L, Santagata S, Kaiser UB, Beroukhim R, Laws ER, Dunn IF. Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors. Endocrinology. 2017 07 01; 158(7):2284-2291. PMID: 28486603.
    Citations: 3     Fields:    Translation:HumansCells
  19. Campbell JD, Lathan C, Sholl L, Ducar M, Vega M, Sunkavalli A, Lin L, Hanna M, Schubert L, Thorner A, Faris N, Williams DR, Osarogiagbon RU, van Hummelen P, Meyerson M, MacConaill L. Comparison of Prevalence and Types of Mutations in Lung Cancers Among Black and White Populations. JAMA Oncol. 2017 Jun 01; 3(6):801-809. PMID: 28114446.
    Citations: 6     Fields:    Translation:Humans
  20. Garcia EP, Minkovsky A, Jia Y, Ducar MD, Shivdasani P, Gong X, Ligon AH, Sholl LM, Kuo FC, MacConaill LE, Lindeman NI, Dong F. Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer. Arch Pathol Lab Med. 2017 Jun; 141(6):751-758. PMID: 28557599.
    Citations: 8     Fields:    Translation:Humans
  21. Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE. Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 11 17; 1(19):e87062. PMID: 27882345.
    Citations: 27     Fields:    Translation:Humans
  22. Watkins JC, Howitt BE, Horowitz NS, Ritterhouse LL, Dong F, MacConaill LE, Garcia E, Lindeman NI, Lee LJ, Berkowitz RS, Nucci MR, Crum CP. Differentiated exophytic vulvar intraepithelial lesions are genetically distinct from keratinizing squamous cell carcinomas and contain mutations in PIK3CA. Mod Pathol. 2017 03; 30(3):448-458. PMID: 27834349.
    Citations: 1     Fields:    Translation:Humans
  23. Bi WL, Horowitz P, Greenwald NF, Abedalthagafi M, Agarwalla PK, Gibson WJ, Mei Y, Schumacher SE, Ben-David U, Chevalier A, Carter S, Tiao G, Brastianos PK, Ligon AH, Ducar M, MacConaill L, Laws ER, Santagata S, Beroukhim R, Dunn IF. Landscape of Genomic Alterations in Pituitary Adenomas. Clin Cancer Res. 2017 Apr 01; 23(7):1841-1851. PMID: 27707790.
    Citations: 6     Fields:    Translation:HumansCells
  24. Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, Liu D, Oliver N, MacConaill L, Ducar M, Rojas-Rudilla V, Giannakis M, Ghazani A, Gray S, Janne P, Garber J, Joffe S, Lindeman N, Wagle N, Garraway LA, Van Allen EM. The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. Genome Med. 2016 07 26; 8(1):79. PMID: 27460824.
    Citations: 15     Fields:    Translation:Humans
  25. Ritterhouse LL, Nowak JA, Strickland KC, Garcia EP, Jia Y, Lindeman NI, Macconaill LE, Konstantinopoulos PA, Matulonis UA, Liu J, Berkowitz RS, Nucci MR, Crum CP, Sholl LM, Howitt BE. Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas. Mod Pathol. 2016 08; 29(8):893-903. PMID: 27150160.
    Citations: 2     Fields:    Translation:Humans
  26. Harris MH, DuBois SG, Glade Bender JL, Kim A, Crompton BD, Parker E, Dumont IP, Hong AL, Guo D, Church A, Stegmaier K, Roberts CWM, Shusterman S, London WB, MacConaill LE, Lindeman NI, Diller L, Rodriguez-Galindo C, Janeway KA. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study. JAMA Oncol. 2016 May 01; 2(5):608-615. PMID: 26822149.
    Citations: 22     Fields:    
  27. Hwang DH, Sholl LM, Rojas-Rudilla V, Hall DL, Shivdasani P, Garcia EP, MacConaill LE, Vivero M, Hornick JL, Kuo FC, Lindeman NI, Dong F. KRAS and NKX2-1 Mutations in Invasive Mucinous Adenocarcinoma of the Lung. J Thorac Oncol. 2016 Apr; 11(4):496-503. PMID: 26829311.
    Citations: 14     Fields:    Translation:Humans
  28. Choi PW, Yang J, Ng SK, Feltmate C, Muto MG, Hasselblatt K, Lafferty-Whyte K, JeBailey L, MacConaill L, Welch WR, Fong WP, Berkowitz RS, Ng SW. Loss of E-cadherin disrupts ovarian epithelial inclusion cyst formation and collective cell movement in ovarian cancer cells. Oncotarget. 2016 Jan 26; 7(4):4110-21. PMID: 26684027.
    Citations: 5     Fields:    Translation:HumansCells
  29. MacConaill LE, Lindeman NI, Rollins BJ. Brave-ish New World--What's Needed to Make Precision Oncology a Practical Reality. JAMA Oncol. 2015 Oct; 1(7):879-80. PMID: 26181886.
    Citations: 3     Fields:    Translation:Humans
  30. Mirkovic J, Sholl LM, Garcia E, Lindeman N, MacConaill L, Hirsch M, Dal Cin P, Gorman M, Barletta JA, Nucci MR, McCluggage WG, Howitt BE. Targeted genomic profiling reveals recurrent KRAS mutations and gain of chromosome 1q in mesonephric carcinomas of the female genital tract. Mod Pathol. 2015 Nov; 28(11):1504-14. PMID: 26336887.
    Citations: 3     Fields:    Translation:HumansCells
  31. Nelson DS, van Halteren A, Quispel WT, van den Bos C, Bovée JV, Patel B, Badalian-Very G, van Hummelen P, Ducar M, Lin L, MacConaill LE, Egeler RM, Rollins BJ. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015 Jun; 54(6):361-8. PMID: 25899310.
    Citations: 30     Fields:    Translation:HumansCells
  32. Chung TK, Van Hummelen P, Chan PK, Cheung TH, Yim SF, Yu MY, Ducar MD, Thorner AR, MacConaill LE, Doran G, Pedamallu CS, Ojesina AI, Wong RR, Wang VW, Freeman SS, Lau TS, Kwong J, Chan LK, Fromer M, May T, Worley MJ, Esselen KM, Elias KM, Lawrence M, Getz G, Smith DI, Crum CP, Meyerson M, Berkowitz RS, Wong YF. Genomic aberrations in cervical adenocarcinomas in Hong Kong Chinese women. Int J Cancer. 2015 Aug 15; 137(4):776-83. PMID: 25626421.
    Citations: 10     Fields:    Translation:HumansCells
  33. Lian CG, Sholl LM, Zakka LR, O TM, Liu C, Xu S, Stanek E, Garcia E, Jia Y, MacConaill LE, Murphy GF, Waner M, Mihm MC. Novel genetic mutations in a sporadic port-wine stain. JAMA Dermatol. 2014 Dec; 150(12):1336-40. PMID: 25188413.
    Citations: 11     Fields:    Translation:Humans
  34. Abo RP, Ducar M, Garcia EP, Thorner AR, Rojas-Rudilla V, Lin L, Sholl LM, Hahn WC, Meyerson M, Lindeman NI, Van Hummelen P, MacConaill LE. BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers. Nucleic Acids Res. 2015 Feb 18; 43(3):e19. PMID: 25428359.
    Citations: 28     Fields:    Translation:Humans
  35. Howitt BE, Sholl LM, Dal Cin P, Jia Y, Yuan L, MacConaill L, Lindeman N, Kuo F, Garcia E, Nucci MR, Quade BJ. Targeted genomic analysis of Müllerian adenosarcoma. J Pathol. 2015 Jan; 235(1):37-49. PMID: 25231023.
    Citations: 11     Fields:    Translation:Humans
  36. Emmanuel C, Chiew YE, George J, Etemadmoghadam D, Anglesio MS, Sharma R, Russell P, Kennedy C, Fereday S, Hung J, Galletta L, Hogg R, Wain GV, Brand A, Balleine R, MacConaill L, Palescandolo E, Hunter SM, Campbell I, Dobrovic A, Wong SQ, Do H, Clarke CL, Harnett PR, Bowtell DD, deFazio A. Genomic classification of serous ovarian cancer with adjacent borderline differentiates RAS pathway and TP53-mutant tumors and identifies NRAS as an oncogenic driver. Clin Cancer Res. 2014 Dec 15; 20(24):6618-30. PMID: 25316818.
    Citations: 16     Fields:    Translation:HumansCells
  37. MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, Sharaf N, Sholl L, van Hummelen P, Wade J, Wollinson BM, Zepf D, Rollins BJ, Lindeman NI. Prospective enterprise-level molecular genotyping of a cohort of cancer patients. J Mol Diagn. 2014 Nov; 16(6):660-72. PMID: 25157968.
    Citations: 22     Fields:    Translation:Humans
  38. Sadow PM, Priolo C, Nanni S, Karreth FA, Duquette M, Martinelli R, Husain A, Clohessy J, Kutzner H, Mentzel T, Carman CV, Farsetti A, Henske EP, Palescandolo E, Macconaill LE, Chung S, Fadda G, Lombardi CP, De Angelis AM, Durante O, Parker JA, Pontecorvi A, Dvorak HF, Fletcher C, Pandolfi PP, Lawler J, Nucera C. Role of BRAFV600E in the first preclinical model of multifocal infiltrating myopericytoma development and microenvironment. J Natl Cancer Inst. 2014 Aug; 106(8). PMID: 25063326.
    Citations: 8     Fields:    Translation:HumansCells
  39. Choy E, MacConaill LE, Cote GM, Le LP, Shen JK, Nielsen GP, Iafrate AJ, Garraway LA, Hornicek FJ, Duan Z. Genotyping cancer-associated genes in chordoma identifies mutations in oncogenes and areas of chromosomal loss involving CDKN2A, PTEN, and SMARCB1. PLoS One. 2014; 9(7):e101283. PMID: 24983247.
    Citations: 11     Fields:    Translation:Humans
  40. Kim YM, Lee SW, Chun SM, Kim DY, Kim JH, Kim KR, Kim YT, Nam JH, van Hummelen P, MacConaill LE, Hahn WC, Jang SJ. Analysis and comparison of somatic mutations in paired primary and recurrent epithelial ovarian cancer samples. PLoS One. 2014; 9(6):e99451. PMID: 24936796.
    Citations: 6     Fields:    Translation:Humans
  41. Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, Jane-Valbuena J, Friedrich DC, Kryukov G, Carter SL, McKenna A, Sivachenko A, Rosenberg M, Kiezun A, Voet D, Lawrence M, Lichtenstein LT, Gentry JG, Huang FW, Fostel J, Farlow D, Barbie D, Gandhi L, Lander ES, Gray SW, Joffe S, Janne P, Garber J, MacConaill L, Lindeman N, Rollins B, Kantoff P, Fisher SA, Gabriel S, Getz G, Garraway LA. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014 Jun; 20(6):682-8. PMID: 24836576.
    Citations: 137     Fields:    Translation:HumansCells
  42. Nelson DS, Quispel W, Badalian-Very G, van Halteren AG, van den Bos C, Bovée JV, Tian SY, Van Hummelen P, Ducar M, MacConaill LE, Egeler RM, Rollins BJ. Somatic activating ARAF mutations in Langerhans cell histiocytosis. Blood. 2014 May 15; 123(20):3152-5. PMID: 24652991.
    Citations: 35     Fields:    Translation:HumansAnimalsCells
  43. Hanna MC, Go C, Roden C, Jones RT, Pochanard P, Javed AY, Javed A, Mondal C, Palescandolo E, Van Hummelen P, Hatton C, Bass AJ, Chun SM, Na DC, Kim TI, Jang SJ, Osarogiagbon RU, Hahn WC, Meyerson M, Garraway LA, MacConaill LE. Colorectal cancers from distinct ancestral populations show variations in BRAF mutation frequency. PLoS One. 2013; 8(9):e74950. PMID: 24066160.
    Citations: 12     Fields:    Translation:Humans
  44. Hettmer S, Teot LA, van Hummelen P, MacConaill L, Bronson RT, Dall'Osso C, Mao J, McMahon AP, Gruber PJ, Grier HE, Rodriguez-Galindo C, Fletcher CD, Wagers AJ. Mutations in Hedgehog pathway genes in fetal rhabdomyomas. J Pathol. 2013 Sep; 231(1):44-52. PMID: 23780909.
    Citations: 11     Fields:    Translation:HumansAnimals
  45. Wright AA, Howitt BE, Myers AP, Dahlberg SE, Palescandolo E, Van Hummelen P, MacConaill LE, Shoni M, Wagle N, Jones RT, Quick CM, Laury A, Katz IT, Hahn WC, Matulonis UA, Hirsch MS. Oncogenic mutations in cervical cancer: genomic differences between adenocarcinomas and squamous cell carcinomas of the cervix. Cancer. 2013 Nov 01; 119(21):3776-83. PMID: 24037752.
    Citations: 51     Fields:    Translation:Humans
  46. Ramkissoon LA, Horowitz PM, Craig JM, Ramkissoon SH, Rich BE, Schumacher SE, McKenna A, Lawrence MS, Bergthold G, Brastianos PK, Tabak B, Ducar MD, Van Hummelen P, MacConaill LE, Pouissant-Young T, Cho YJ, Taha H, Mahmoud M, Bowers DC, Margraf L, Tabori U, Hawkins C, Packer RJ, Hill DA, Pomeroy SL, Eberhart CG, Dunn IF, Goumnerova L, Getz G, Chan JA, Santagata S, Hahn WC, Stiles CD, Ligon AH, Kieran MW, Beroukhim R, Ligon KL. Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1. Proc Natl Acad Sci U S A. 2013 May 14; 110(20):8188-93. PMID: 23633565.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
  47. MacConaill LE. Existing and emerging technologies for tumor genomic profiling. J Clin Oncol. 2013 May 20; 31(15):1815-24. PMID: 23589546.
    Citations: 27     Fields:    Translation:Humans
  48. Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet. 2013 Mar; 45(3):285-9. PMID: 23334667.
    Citations: 103     Fields:    Translation:HumansCells
  49. Daniels AB, Lee JE, MacConaill LE, Palescandolo E, Van Hummelen P, Adams SM, DeAngelis MM, Hahn WC, Gragoudas ES, Harbour JW, Garraway LA, Kim IK. High throughput mass spectrometry-based mutation profiling of primary uveal melanoma. Invest Ophthalmol Vis Sci. 2012 Oct 09; 53(11):6991-6. PMID: 22977135.
    Citations: 10     Fields:    Translation:Humans
  50. MacConaill LE. Advancing personalized cancer medicine in lung cancer. Arch Pathol Lab Med. 2012 Oct; 136(10):1210-6. PMID: 23020726.
    Citations: 2     Fields:    Translation:Humans
  51. Kieran MW, Roberts CW, Chi SN, Ligon KL, Rich BE, Macconaill LE, Garraway LA, Biegel JA. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7. PMID: 22997201.
    Citations: 14     Fields:    Translation:HumansCells
  52. Maeng CH, Lee J, van Hummelen P, Park SH, Palescandolo E, Jang J, Park HY, Kang SY, MacConaill L, Kim KM, Shim YM. High-throughput genotyping in metastatic esophageal squamous cell carcinoma identifies phosphoinositide-3-kinase and BRAF mutations. PLoS One. 2012; 7(8):e41655. PMID: 22870241.
    Citations: 19     Fields:    Translation:HumansCTClinical Trials
  53. Lovejoy CA, Li W, Reisenweber S, Thongthip S, Bruno J, de Lange T, De S, Petrini JH, Sung PA, Jasin M, Rosenbluh J, Zwang Y, Weir BA, Hatton C, Ivanova E, Macconaill L, Hanna M, Hahn WC, Lue NF, Reddel RR, Jiao Y, Kinzler K, Vogelstein B, Papadopoulos N, Meeker AK. Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway. PLoS Genet. 2012; 8(7):e1002772. PMID: 22829774.
    Citations: 138     Fields:    Translation:HumansCells
  54. Lee J, van Hummelen P, Go C, Palescandolo E, Jang J, Park HY, Kang SY, Park JO, Kang WK, MacConaill L, Kim KM. High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. PLoS One. 2012; 7(6):e38892. PMID: 22723903.
    Citations: 30     Fields:    Translation:Humans
  55. Brown JR, Hanna M, Tesar B, Werner L, Pochet N, Asara JM, Wang YE, Dal Cin P, Fernandes SM, Thompson C, Macconaill L, Wu CJ, Van de Peer Y, Correll M, Regev A, Neuberg D, Freedman AS. Integrative genomic analysis implicates gain of PIK3CA at 3q26 and MYC at 8q24 in chronic lymphocytic leukemia. Clin Cancer Res. 2012 Jul 15; 18(14):3791-802. PMID: 22623730.
    Citations: 22     Fields:    Translation:HumansCells
  56. Williams DR, Kontos EZ, Viswanath K, Haas JS, Lathan CS, MacConaill LE, Chen J, Ayanian JZ. Integrating multiple social statuses in health disparities research: the case of lung cancer. Health Serv Res. 2012 Jun; 47(3 Pt 2):1255-77. PMID: 22568674.
    Citations: 32     Fields:    Translation:Humans
  57. Barretina J, Caponigro G, Stransky N, Venkatesan K, Margolin AA, Kim S, Wilson CJ, Lehár J, Kryukov GV, Sonkin D, Reddy A, Liu M, Murray L, Berger MF, Monahan JE, Morais P, Meltzer J, Korejwa A, Jané-Valbuena J, Mapa FA, Thibault J, Bric-Furlong E, Raman P, Shipway A, Engels IH, Cheng J, Yu GK, Yu J, Aspesi P, de Silva M, Jagtap K, Jones MD, Wang L, Hatton C, Palescandolo E, Gupta S, Mahan S, Sougnez C, Onofrio RC, Liefeld T, MacConaill L, Winckler W, Reich M, Li N, Mesirov JP, Gabriel SB, Getz G, Ardlie K, Chan V, Myer VE, Weber BL, Porter J, Warmuth M, Finan P, Harris JL, Meyerson M, Golub TR, Morrissey MP, Sellers WR, Schlegel R, Garraway LA. The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature. 2012 Mar 28; 483(7391):603-7. PMID: 22460905.
    Citations: 1553     Fields:    Translation:HumansCells
  58. Brown JR, Hanna M, Tesar B, Pochet N, Vartanov A, Fernandes SM, Werner L, Ash M, Roden CA, MacConaill L, Hainz U, Longtine J, Wang YE, Correll M, Van de Peer Y, Regev A, Wu C, Neuberg D, Freedman AS. Germline copy number variation associated with Mendelian inheritance of CLL in two families. Leukemia. 2012 Jul; 26(7):1710-3. PMID: 22382893.
    Citations: 4     Fields:    Translation:Humans
  59. Grill J, Puget S, Andreiuolo F, Philippe C, MacConaill L, Kieran MW. Critical oncogenic mutations in newly diagnosed pediatric diffuse intrinsic pontine glioma. Pediatr Blood Cancer. 2012 Apr; 58(4):489-91. PMID: 22190243.
    Citations: 37     Fields:    Translation:Humans
  60. Oberholzer PA, Kee D, Dziunycz P, Sucker A, Kamsukom N, Jones R, Roden C, Chalk CJ, Ardlie K, Palescandolo E, Piris A, MacConaill LE, Robert C, Hofbauer GF, McArthur GA, Schadendorf D, Garraway LA. RAS mutations are associated with the development of cutaneous squamous cell tumors in patients treated with RAF inhibitors. J Clin Oncol. 2012 Jan 20; 30(3):316-21. PMID: 22067401.
    Citations: 97     Fields:    Translation:Humans
  61. Wagle N, Berger MF, Davis MJ, Blumenstiel B, Defelice M, Pochanard P, Ducar M, Van Hummelen P, Macconaill LE, Hahn WC, Meyerson M, Gabriel SB, Garraway LA. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2012 Jan; 2(1):82-93. PMID: 22585170.
    Citations: 202     Fields:    Translation:HumansCells
  62. Choy E, Hornicek F, MacConaill L, Harmon D, Tariq Z, Garraway L, Duan Z. High-throughput genotyping in osteosarcoma identifies multiple mutations in phosphoinositide-3-kinase and other oncogenes. Cancer. 2012 Jun 01; 118(11):2905-14. PMID: 22006429.
    Citations: 25     Fields:    Translation:HumansCells
  63. Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ. Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One. 2011; 6(9):e24919. PMID: 21949787.
    Citations: 19     Fields:    Translation:HumansCTClinical Trials
  64. Matulonis UA, Hirsch M, Palescandolo E, Kim E, Liu J, van Hummelen P, MacConaill L, Drapkin R, Hahn WC. High throughput interrogation of somatic mutations in high grade serous cancer of the ovary. PLoS One. 2011; 6(9):e24433. PMID: 21931712.
    Citations: 20     Fields:    Translation:Humans
  65. MacConaill LE, Van Hummelen P, Meyerson M, Hahn WC. Clinical implementation of comprehensive strategies to characterize cancer genomes: opportunities and challenges. Cancer Discov. 2011 Sep; 1(4):297-311. PMID: 21935500.
    Citations: 17     Fields:    Translation:Humans
  66. Tian Y, Rich BE, Vena N, Craig JM, Macconaill LE, Rajaram V, Goldman S, Taha H, Mahmoud M, Ozek M, Sav A, Longtine JA, Lindeman NI, Garraway LA, Ligon AH, Stiles CD, Santagata S, Chan JA, Kieran MW, Ligon KL. Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas. J Mol Diagn. 2011 Nov; 13(6):669-77. PMID: 21884820.
    Citations: 23     Fields:    Translation:Humans
  67. Wagle N, Berger MF, Davis MJ, Blumenstiel B, DeFelice M, Hahn WC, Meyerson M, Gabriel SB, MacConaill LE, Garraway LA. Tumor genomic profiling of FFPE samples by massively parallel sequencing. J Clin Oncol. 2011 May 20; 29(15_suppl):10502. PMID: 28022364.
    Citations:    
  68. Wagle N, Emery C, Berger MF, Davis MJ, Sawyer A, Pochanard P, Kehoe SM, Johannessen CM, Macconaill LE, Hahn WC, Meyerson M, Garraway LA. Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J Clin Oncol. 2011 Aug 01; 29(22):3085-96. PMID: 21383288.
    Citations: 311     Fields:    Translation:Humans
  69. Deshpande V, Nduaguba A, Zimmerman SM, Kehoe SM, Macconaill LE, Lauwers GY, Ferrone C, Bardeesy N, Zhu AX, Hezel AF. Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma. BMC Cancer. 2011 Feb 08; 11:60. PMID: 21303542.
    Citations: 38     Fields:    Translation:Humans
  70. Kiessling MK, Oberholzer PA, Mondal C, Karpova MB, Zipser MC, Lin WM, Girardi M, Macconaill LE, Kehoe SM, Hatton C, French LE, Garraway LA, Polier G, Süss D, Klemke CD, Krammer PH, Gülow K, Dummer R. High-throughput mutation profiling of CTCL samples reveals KRAS and NRAS mutations sensitizing tumors toward inhibition of the RAS/RAF/MEK signaling cascade. Blood. 2011 Feb 24; 117(8):2433-40. PMID: 21209378.
    Citations: 22     Fields:    Translation:HumansCells
  71. Macconaill LE, Garraway LA. Clinical implications of the cancer genome. J Clin Oncol. 2010 Dec 10; 28(35):5219-28. PMID: 20975063.
    Citations: 65     Fields:    Translation:HumansAnimals
  72. Miron A, Varadi M, Carrasco D, Li H, Luongo L, Kim HJ, Park SY, Cho EY, Lewis G, Kehoe S, Iglehart JD, Dillon D, Allred DC, Macconaill L, Gelman R, Polyak K. PIK3CA mutations in in situ and invasive breast carcinomas. Cancer Res. 2010 Jul 15; 70(14):5674-8. PMID: 20551053.
    Citations: 38     Fields:    Translation:Humans
  73. Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010 Sep 16; 116(11):1919-23. PMID: 20519626.
    Citations: 167     Fields:    Translation:Humans
  74. Ahmadiyeh N, Pomerantz MM, Grisanzio C, Herman P, Jia L, Almendro V, He HH, Brown M, Liu XS, Davis M, Caswell JL, Beckwith CA, Hills A, Macconaill L, Coetzee GA, Regan MM, Freedman ML. 8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci U S A. 2010 May 25; 107(21):9742-6. PMID: 20453196.
    Citations: 140     Fields:    Translation:HumansCells
  75. Søndergaard JN, Nazarian R, Wang Q, Guo D, Hsueh T, Mok S, Sazegar H, MacConaill LE, Barretina JG, Kehoe SM, Attar N, von Euw E, Zuckerman JE, Chmielowski B, Comin-Anduix B, Koya RC, Mischel PS, Lo RS, Ribas A. Differential sensitivity of melanoma cell lines with BRAFV600E mutation to the specific Raf inhibitor PLX4032. J Transl Med. 2010 Apr 20; 8:39. PMID: 20406486.
    Citations: 85     Fields:    Translation:HumansAnimalsCells
  76. Min J, Zaslavsky A, Fedele G, McLaughlin SK, Reczek EE, De Raedt T, Guney I, Strochlic DE, Macconaill LE, Beroukhim R, Bronson RT, Ryeom S, Hahn WC, Loda M, Cichowski K. An oncogene-tumor suppressor cascade drives metastatic prostate cancer by coordinately activating Ras and nuclear factor-kappaB. Nat Med. 2010 Mar; 16(3):286-94. PMID: 20154697.
    Citations: 154     Fields:    Translation:HumansAnimalsCells
  77. MacConaill LE, Campbell CD, Kehoe SM, Bass AJ, Hatton C, Niu L, Davis M, Yao K, Hanna M, Mondal C, Luongo L, Emery CM, Baker AC, Philips J, Goff DJ, Fiorentino M, Rubin MA, Polyak K, Chan J, Wang Y, Fletcher JA, Santagata S, Corso G, Roviello F, Shivdasani R, Kieran MW, Ligon KL, Stiles CD, Hahn WC, Meyerson ML, Garraway LA. Profiling critical cancer gene mutations in clinical tumor samples. PLoS One. 2009 Nov 18; 4(11):e7887. PMID: 19924296.
    Citations: 162     Fields:    Translation:Humans
  78. Emery CM, Vijayendran KG, Zipser MC, Sawyer AM, Niu L, Kim JJ, Hatton C, Chopra R, Oberholzer PA, Karpova MB, MacConaill LE, Zhang J, Gray NS, Sellers WR, Dummer R, Garraway LA. MEK1 mutations confer resistance to MEK and B-RAF inhibition. Proc Natl Acad Sci U S A. 2009 Dec 01; 106(48):20411-6. PMID: 19915144.
    Citations: 195     Fields:    Translation:HumansCells
  79. Rhodes J, Amsterdam A, Sanda T, Moreau LA, McKenna K, Heinrichs S, Ganem NJ, Ho KW, Neuberg DS, Johnston A, Ahn Y, Kutok JL, Hromas R, Wray J, Lee C, Murphy C, Radtke I, Downing JR, Fleming MD, MacConaill LE, Amatruda JF, Gutierrez A, Galinsky I, Stone RM, Ross EA, Pellman DS, Kanki JP, Look AT. Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression. Mol Cell Biol. 2009 Nov; 29(21):5911-22. PMID: 19704007.
    Citations: 14     Fields:    Translation:AnimalsCells
  80. Nikolsky Y, Sviridov E, Yao J, Dosymbekov D, Ustyansky V, Kaznacheev V, Dezso Z, Mulvey L, Macconaill LE, Winckler W, Serebryiskaya T, Nikolskaya T, Polyak K. Genome-wide functional synergy between amplified and mutated genes in human breast cancer. Cancer Res. 2008 Nov 15; 68(22):9532-40. PMID: 19010930.
    Citations: 43     Fields:    Translation:HumansCells
  81. MacConaill L, Meyerson M. Adding pathogens by genomic subtraction. Nat Genet. 2008 Apr; 40(4):380-2. PMID: 18368124.
    Citations: 10     Fields:    Translation:HumansCells
  82. Macconaill LE, Aldred MA, Lu X, Laframboise T. Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation. BMC Genomics. 2007 Jul 03; 8:211. PMID: 17608949.
    Citations: 8     Fields:    Translation:Humans
  83. Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, Lin WM, Wang M, Feng W, Zander T, MacConaill L, Macconnaill LE, Lee JC, Nicoletti R, Hatton C, Goyette M, Girard L, Majmudar K, Ziaugra L, Wong KK, Gabriel S, Beroukhim R, Peyton M, Barretina J, Dutt A, Emery C, Greulich H, Shah K, Sasaki H, Gazdar A, Minna J, Armstrong SA, Mellinghoff IK, Hodi FS, Dranoff G, Mischel PS, Cloughesy TF, Nelson SF, Liau LM, Mertz K, Rubin MA, Moch H, Loda M, Catalona W, Fletcher J, Signoretti S, Kaye F, Anderson KC, Demetri GD, Dummer R, Wagner S, Herlyn M, Sellers WR, Meyerson M, Garraway LA. High-throughput oncogene mutation profiling in human cancer. Nat Genet. 2007 Mar; 39(3):347-51. PMID: 17293865.
    Citations: 401     Fields:    Translation:Humans
  84. MacConaill LE, Hughes CM, Rozenblatt-Rosen O, Nannepaga S, Meyerson M. Phosphorylation of the menin tumor suppressor protein on serine 543 and serine 583. Mol Cancer Res. 2006 Oct; 4(10):793-801. PMID: 17050672.
    Citations: 10     Fields:    Translation:HumansCells
  85. MacConaill LE, Fitzgerald GF, Van Sinderen D. Investigation of protein export in Bifidobacterium breve UCC2003. Appl Environ Microbiol. 2003 Dec; 69(12):6994-7001. PMID: 14660341.
    Citations: 12     Fields:    Translation:Cells
  86. MacConaill LE, Butler D, O'Connell-Motherway M, Fitzgerald GF, van Sinderen D. Identification of two-component regulatory systems in Bifidobacterium infantis by functional complementation and degenerate PCR approaches. Appl Environ Microbiol. 2003 Jul; 69(7):4219-26. PMID: 12839803.
    Citations: 7     Fields:    Translation:Cells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.