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Kevin Bowling

Associate Professor of Pathology and Immunology

 https://orcid.org/0000-0002-2755-8771
    • 15360
      Citations
    20062022

    Research activity per year

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    • 2022

      Genome sequencing as a first-line diagnostic test for hospitalized infants

      Bowling, K. M., Thompson, M. L., Finnila, C. R., Hiatt, S. M., Latner, D. R., Amaral, M. D., Lawlor, J. M. J., East, K. M., Cochran, M. E., Greve, V., Kelley, W. V., Gray, D. E., Felker, S. A., Meddaugh, H., Cannon, A., Luedecke, A., Jackson, K. E., Hendon, L. G., Janani, H. M., Johnston, M., & 19 othersMerin, L. A., Deans, S. L., Tuura, C., Williams, H., Laborde, K., Neu, M. B., Patrick-Esteve, J., Hurst, A. C. E., Kandasamy, J., Carlo, W., Brothers, K. B., Kirmse, B. M., Savich, R., Superneau, D., Spedale, S. B., Knight, S. J., Barsh, G. S., Korf, B. R. & Cooper, G. M., Apr 2022, In: Genetics in Medicine. 24, 4, p. 851-861 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      12 Scopus citations

    • Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

      Bowling, K. M., Thompson, M. L., Kelly, M. A., Scollon, S., Slavotinek, A. M., Powell, B. C., Kirmse, B. M., Hendon, L. G., Brothers, K. B., Korf, B. R., Cooper, G. M., Greally, J. M. & Hurst, A. C. E., Dec 2022, In: Genome medicine. 14, 1, 131.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      3 Scopus citations
    • 2021

      A state-based approach to genomics for rare disease and population screening

      AGHI Consortium, Apr 2021, In: Genetics in Medicine. 23, 4, p. 777-781 5 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      14 Scopus citations

    • Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls

      Bowling, K. M., Thompson, M. L., Gray, D. E., Lawlor, J. M. J., Williams, K., East, K. M., Kelley, W. V., Moss, I. P., Absher, D. M., Partridge, E. C., Hurst, A. C. E., Edberg, J. C., Barsh, G. S., Korf, B. R. & Cooper, G. M., Feb 2021, In: Genetics in Medicine. 23, 2, p. 280-288 9 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      6 Scopus citations

    • Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

      Hiatt, S. M., Lawlor, J. M. J., Handley, L. H., Ramaker, R. C., Rogers, B. B., Partridge, E. C., Boston, L. B., Williams, M., Plott, C. B., Jenkins, J., Gray, D. E., Holt, J. M., Bowling, K. M., Bebin, E. M., Grimwood, J., Schmutz, J. & Cooper, G. M., Apr 8 2021, In: Human Genetics and Genomics Advances. 2, 2, 100023.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      18 Scopus citations

    • Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

      Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., Schnappauf, O., Beck, D. B., Brewer, C., Parikh, A. S., Shinde, D. N., Donaldson, A., Brautbar, A., Koene, S., van Haeringen, A., Piton, A., Capri, Y., Furlan, M., Gardella, E., Møller, R. S., & 28 othersvan de Beek, I., Zuurbier, L., Lakeman, P., Bayat, A., Martinez, J., Signer, R., Torring, P. M., Engelund, M. B., Gripp, K. W., Amlie-Wolf, L., Henderson, L. B., Midro, A. T., Tarasów, E., Stasiewicz-Jarocka, B., Moskal-Jasinska, D., Vos, P., Boschann, F., Stoltenburg, C., Puk, O., Mero, I. L., Lossius, K., Mignot, C., Keren, B., Acosta Guio, J. C., Briceño, I., Gomez, A., Yang, Y. & Stankiewicz, P., May 2021, In: American Journal of Medical Genetics, Part A. 185, 5, p. 1366-1378 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      6 Scopus citations

    • The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life

      Childerhose, J. E., Rich, C., East, K. M., Kelley, W. V., Simmons, S., Finnila, C. R., Bowling, K., Amaral, M., Hiatt, S. M., Thompson, M., Gray, D. E., Lawlor, J. M. J., Myers, R. M., Barsh, G. S., Lose, E. J., Bebin, M. E., Cooper, G. M. & Brothers, K. B., 2021, In: AJOB Empirical Bioethics. 12, 3, p. 179-189 11 p.

      Research output: Contribution to journal › Article › peer-review

      10 Scopus citations
    • 2020

      Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

      Kazamel, M., Lopez, M. A., Bebin, M., Bowling, K., Korf, B. R., Barsh, G. S., Cooper, G. M., Hurst, A. C. E. & Ubogu, E. E., 2020, In: Neurology: Genetics. 6, 4, e476.

      Research output: Contribution to journal › Article › peer-review

      Open Access

    • How secondary findings are made

      Bowling, K. M., Thompson, M. L. & Cooper, G. M., Jan 1 2020, Secondary Findings in Genomic Research. Elsevier, p. 59-75 17 p.

      Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

    • Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

      Amendola, L. M., Muenzen, K., Biesecker, L. G., Bowling, K. M., Cooper, G. M., Dorschner, M. O., Driscoll, C., Foreman, A. K. M., Golden-Grant, K., Greally, J. M., Hindorff, L., Kanavy, D., Jobanputra, V., Johnston, J. J., Kenny, E. E., McNulty, S., Murali, P., Ou, J., Powell, B. C., Rehm, H. L., & 10 othersRolf, B., Roman, T. S., Van Ziffle, J., Guha, S., Abhyankar, A., Crosslin, D., Venner, E., Yuan, B., Zouk, H. & Jarvik, G. P., Nov 5 2020, In: American journal of human genetics. 107, 5, p. 932-941 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      34 Scopus citations
    • 2019

      Clinical utility of genomic sequencing

      Neu, M. B., Bowling, K. M. & Cooper, G. M., Dec 1 2019, In: Current opinion in pediatrics. 31, 6, p. 732-738 7 p.

      Research output: Contribution to journal › Review article › peer-review

      12 Scopus citations

    • Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (Genetics in Medicine, (2019), 21, 5, (1100-1110), 10.1038/s41436-018-0308-x)

      Hart, M. R., Biesecker, B. B., Blout, C. L., Christensen, K. D., Amendola, L. M., Bergstrom, K. L., Biswas, S., Bowling, K. M., Brothers, K. B., Conlin, L. K., Cooper, G. M., Dulik, M. C., East, K. M., Everett, J. N., Finnila, C. R., Ghazani, A. A., Gilmore, M. J., Goddard, K. A. B., Jarvik, G. P., Johnston, J. J., & 22 othersKauffman, T. L., Kelley, W. V., Krier, J. B., Lewis, K. L., McGuire, A. L., McMullen, C., Ou, J., Plon, S. E., Rehm, H. L., Richards, C. S., Romasko, E. J., Sagardia, A. M., Spinner, N. B., Thompson, M. L., Turbitt, E., Vassy, J. L., Wilfond, B. S., Veenstra, D. L., Berg, J. S., Green, R. C., Biesecker, L. G. & Hindorff, L. A., May 1 2019, In: Genetics in Medicine. 21, 5, p. 1261-1262 2 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      4 Scopus citations

    • Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

      Hart, M. R., Biesecker, B. B., Blout, C. L., Christensen, K. D., Amendola, L. M., Bergstrom, K. L., Biswas, S., Bowling, K. M., Brothers, K. B., Conlin, L. K., Cooper, G. M., Dulik, M. C., East, K. M., Everett, J. N., Finnila, C. R., Ghazani, A. A., Gilmore, M. J., Goddard, K. A. B., Jarvik, G. P., Johnston, J. J., & 22 othersKauffman, T. L., Kelley, W. V., Krier, J. B., Lewis, K. L., McGuire, A. L., McMullen, C., Ou, J., Plon, S. E., Rehm, H. L., Richards, C. S., Romasko, E. J., Miren Sagardia, A., Spinner, N. B., Thompson, M. L., Turbitt, E., Vassy, J. L., Wilfond, B. S., Veenstra, D. L., Berg, J. S., Green, R. C., Biesecker, L. G. & Hindorff, L. A., May 1 2019, In: Genetics in Medicine. 21, 5, p. 1100-1110 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      96 Scopus citations

    • Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

      Torti, E., Keren, B., Palmer, E. E., Zhu, Z., Afenjar, A., Anderson, I. J., Andrews, M. V., Atkinson, C., Au, M., Berry, S. A., Bowling, K. M., Boyle, J., Buratti, J., Cathey, S. S., Charles, P., Cogne, B., Courtin, T., Escobar, L. F., Finley, S. L., Graham, J. M., & 33 othersGrange, D. K., Heron, D., Hewson, S., Hiatt, S. M., Hibbs, K. A., Jayakar, P., Kalsner, L., Larcher, L., Lesca, G., Mark, P. R., Miller, K., Nava, C., Nizon, M., Pai, G. S., Pappas, J., Parsons, G., Payne, K., Putoux, A., Rabin, R., Sabatier, I., Shinawi, M., Shur, N., Skinner, S. A., Valence, S., Warren, H., Whalen, S., Crunk, A., Douglas, G., Monaghan, K. G., Person, R. E., Willaert, R., Solomon, B. D. & Juusola, J., Sep 1 2019, In: Genetics in Medicine. 21, 9, p. 2036-2042 7 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      16 Scopus citations
    • 2018

      Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

      The members of the CSER Actionability and Return of Results Working Group, Nov 2018, In: Molecular Genetics and Genomic Medicine. 6, 6, p. 898-909 12 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      12 Scopus citations

    • Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

      on behalf of the NHGRI Clinical Sequencing Exploratory Research (CSER) Consortium, Aug 1 2018, In: Genetics in Medicine. 20, 8, p. 855-866 12 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      19 Scopus citations

    • Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

      Claassen, D., Boals, M., Bowling, K. M., Cooper, G. M., Cox, J., Hershfield, M., Lewis, S., Wlodarski, M., Weiss, M. J. & Estepp, J. H., Dec 2018, In: Cold Spring Harbor molecular case studies. 4, 6, a003384.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      12 Scopus citations

    • De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

      The DDD study, May 1 2018, In: Human genetics. 137, 5, p. 375-388 14 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      36 Scopus citations

    • Genomic sequencing identifies secondary findings in a cohort of parent study participants

      Thompson, M. L., Finnila, C. R., Bowling, K. M., Brothers, K. B., Neu, M. B., Amaral, M. D., Hiatt, S. M., East, K. M., Gray, D. E., Lawlor, J. M. J., Kelley, W. V., Lose, E. J., Rich, C. A., Simmons, S., Levy, S. E., Myers, R. M., Barsh, G. S., Bebin, E. M. & Cooper, G. M., Dec 1 2018, In: Genetics in Medicine. 20, 12, p. 1635-1643 9 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      22 Scopus citations

    • Systematic reanalysis of genomic data improves quality of variant interpretation

      Hiatt, S. M., Amaral, M. D., Bowling, K. M., Finnila, C. R., Thompson, M. L., Gray, D. E., Lawlor, J. M. J., Cochran, J. N., Bebin, E. M., Brothers, K. B., East, K. M., Kelley, W. V., Lamb, N. E., Levy, S. E., Lose, E. J., Neu, M. B., Rich, C. A., Simmons, S., Myers, R. M., Barsh, G. S., & 1 othersCooper, G. M., Jul 2018, In: Clinical Genetics. 94, 1, p. 174-178 5 p.

      Research output: Contribution to journal › Article › peer-review

      22 Scopus citations
    • 2017

      A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

      O'Daniel, J. M., McLaughlin, H. M., Amendola, L. M., Bale, S. J., Berg, J. S., Bick, D., Bowling, K. M., Chao, E. C., Chung, W. K., Conlin, L. K., Cooper, G. M., Das, S., Deignan, J. L., Dorschner, M. O., Evans, J. P., Ghazani, A. A., Goddard, K. A., Gornick, M., Farwell Hagman, K. D., Hambuch, T., & 18 othersHegde, M., Hindorff, L. A., Holm, I. A., Jarvik, G. P., Knight Johnson, A., Mighion, L., Morra, M., Plon, S. E., Punj, S., Richards, C. S., Santani, A., Shirts, B. H., Spinner, N. B., Tang, S., Weck, K. E., Wolf, S. M., Yang, Y. & Rehm, H. L., May 1 2017, In: Genetics in Medicine. 19, 5, p. 575-582 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      60 Scopus citations

    • Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results

      Brothers, K. B., East, K. M., Kelley, W. V., Wright, M. F., Westbrook, M. J., Rich, C. A., Bowling, K. M., Lose, E. J., Bebin, E. M., Simmons, S., Myers, J. A., Barsh, G., Myers, R. M., Cooper, G. M., Pulley, J. M., Rothstein, M. A. & Clayton, E. W., Mar 1 2017, In: Genetics in Medicine. 19, 3, p. 337-344 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      33 Scopus citations

    • Genomic diagnosis for children with intellectual disability and/or developmental delay

      Bowling, K. M., Thompson, M. L., Amaral, M. D., Finnila, C. R., Hiatt, S. M., Engel, K. L., Cochran, J. N., Brothers, K. B., East, K. M., Gray, D. E., Kelley, W. V., Lamb, N. E., Lose, E. J., Rich, C. A., Simmons, S., Whittle, J. S., Weaver, B. T., Nesmith, A. S., Myers, R. M., Barsh, G. S., & 2 othersBebin, E. M. & Cooper, G. M., May 30 2017, In: Genome medicine. 9, 1, 43.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      151 Scopus citations

    • Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

      Harms, F. L., Girisha, K. M., Hardigan, A. A., Kortüm, F., Shukla, A., Alawi, M., Dalal, A., Brady, L., Tarnopolsky, M., Bird, L. M., Ceulemans, S., Bebin, M., Bowling, K. M., Hiatt, S. M., Lose, E. J., Primiano, M., Chung, W. K., Juusola, J., Akdemir, Z. C., Bainbridge, M., & 13 othersCharng, W. L., Drummond-Borg, M., Eldomery, M. K., El-Hattab, A. W., Saleh, M. A. M., Bézieau, S., Cogné, B., Isidor, B., Küry, S., Lupski, J. R., Myers, R. M., Cooper, G. M. & Kutsche, K., Jan 5 2017, In: American journal of human genetics. 100, 1, p. 117-127 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      42 Scopus citations

    • Post-mortem molecular profiling of three psychiatric disorders

      Ramaker, R. C., Bowling, K. M., Lasseigne, B. N., Hagenauer, M. H., Hardigan, A. A., Davis, N. S., Gertz, J., Cartagena, P. M., Walsh, D. M., Vawter, M. P., Schatzberg, A. F., Barchas, J. D., Watson, S. J., Bunney, B. G., Akil, H., Bunney, W. E., Li, J. Z., Cooper, S. J. & Myers, R. M., Jul 28 2017, In: Genome medicine. 9, 1, 72.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      100 Scopus citations
    • 2016

      Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

      Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-Anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P., & 206 othersFullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B. H., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Brown, B. L., Burt, A. A., Byers, P. H., Calikoglu, M. G., Carlson, S. J., Chahin, N., Christensen, K. D., Cirino, A. L., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Hensman, N., Hiatt, S. M., Himes, P., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Hong, C., Horike-Pyne, M. J., Hull, S., Jamal, S., Jensen, B. C., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Kong, S. W., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., Macrae, C., Marchuk, D. S., Martinez, J. N., Masino, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Ng, D., Oliver, N. M., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Scarano, M. I., Schneider, J., Seidman, C. E., Seifert, B. A., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Van Allen, E. M., Vassy, J. L., Vats, P., Vetter, V. L., Vries, R. D., Walser, S. A., Walsh, R. C., Werner-Lin, A., Whittle, J., Wilhelmsen, K. C., Yang, Y., Young, C. & Zikmund-Fisher, B. J., Jun 2 2016, In: American journal of human genetics. 98, 6, p. 1051-1066 16 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      113 Scopus citations

    • Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

      Amendola, L. M., Jarvik, G. P., Leo, M. C., McLaughlin, H. M., Akkari, Y., Amaral, M. D., Berg, J. S., Biswas, S., Bowling, K. M., Conlin, L. K., Cooper, G. M., Dorschner, M. O., Dulik, M. C., Ghazani, A. A., Ghosh, R., Green, R. C., Hart, R., Horton, C., Johnston, J. J., Lebo, M. S., & 12 othersMilosavljevic, A., Ou, J., Pak, C. M., Patel, R. Y., Punj, S., Richards, C. S., Salama, J., Strande, N. T., Yang, Y., Plon, S. E., Biesecker, L. G. & Rehm, H. L., Jul 7 2016, In: American journal of human genetics. 99, 1, p. 247 1 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      101 Scopus citations

    • Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

      Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P., & 254 othersFullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B. H., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Amendola, L., Appelbaum, P. S., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Brown, B. L., Burt, A. A., Byers, P. H., Caga-anan, C. F., Calikoglu, M. G., Carlson, S. J., Chahin, N., Christensen, K. D., Chung, W., Cirino, A. L., Clayton, E., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Evans, J. P., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Fullerton, S. M., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Goddard, K., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Gray, S. W., Green, R., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Henderson, G. E., Hensman, N., Hiatt, S. M., Himes, P., Hindorff, L. A., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Holm, I. A., Hong, C., Horike-Pyne, M. J., Hull, S., Hutter, C. M., Jamal, S., Jarvik, G. P., Jensen, B. C., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Koenig, B. A., Kong, S. W., Krantz, I., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lewis, M., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., MacRae, C., Manolio, T. A., Marchuk, D. S., Martinez, J. N., Masino, A., McCullough, L., McEwen, J., McGuire, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Muzny, D., Myers, R. M., Ng, D., Nickerson, D. A., Oliver, N. M., Ou, J., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Petersen, G., Plon, S., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Rehm, H. L., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Salama, J., Scarano, M. I., Schneider, J., Scollon, S., Seidman, C. E., Seifert, B. A., Sharp, R. R., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Spinner, N. B., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Tabor, H. K., Tarczy-Hornoch, P., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Ubel, P., Van Allen, E. M., Vassy, J. L., Vats, P., Vetter, V. L., Vries, R. D., Wagle, N., Walser, S. A., Walsh, R. C., Weck, K., Werner-Lin, A., Whittle, J., Wilfond, B., Wilhelmsen, K. C., Wolf, S. M., Wynn, J., Yang, Y., Young, C., Yu, J. H. & Zikmund-Fisher, B. J., Jul 7 2016, In: American journal of human genetics. 99, 1, p. 246 1 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      19 Scopus citations

    • Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

      Møller, R. S., Weckhuysen, S., Chipaux, M., Marsan, E., Taly, V., Martina Bebin, E., Hiatt, S. M., Prokop, J. W., Bowling, K. M., Mei, D., Conti, V., De La Grange, P., Ferrand-Sorbets, S., Dorfmüller, G., Lambrecq, V., Larsen, L. H. G., Leguern, E., Guerrini, R., Rubboli, G., Cooper, G. M., & 1 othersBaulac, S., 2016, In: Neurology: Genetics. 2, 6, e118.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      99 Scopus citations

    • Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

      Amendola, L. M., Jarvik, G. P., Leo, M. C., McLaughlin, H. M., Akkari, Y., Amaral, M. D., Berg, J. S., Biswas, S., Bowling, K. M., Conlin, L. K., Cooper, G. M., Dorschner, M. O., Dulik, M. C., Ghazani, A. A., Ghosh, R., Green, R. C., Hart, R., Horton, C., Johnston, J. J., Lebo, M. S., & 12 othersMilosavljevic, A., Ou, J., Pak, C. M., Patel, R. Y., Punj, S., Richards, C. S., Salama, J., Strande, N. T., Yang, Y., Plon, S. E., Biesecker, L. G. & Rehm, H. L., Jun 2 2016, In: American journal of human genetics. 98, 6, p. 1067-1076 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      321 Scopus citations

    • Whole-exome sequencing in familial Parkinson disease

      Farlow, J. L., Robak, L. A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z. H., Gambin, T., Gibbs, R. A., Gu, S., Jain, P., Jankovic, J., Jhangiani, S., Kaw, K., Lai, D., Lin, H., Ling, H., Liu, Y., Lupski, J. R., Muzny, D., Porter, P., & 6 othersPugh, E., White, J., Doheny, K., Myers, R. M., Shulman, J. M. & Foroud, T., Jan 2016, In: JAMA Neurology. 73, 1, p. 68-75 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      52 Scopus citations
    • 2014

      Recurrent read-through fusion transcripts in breast cancer

      Varley, K. E., Gertz, J., Roberts, B. S., Davis, N. S., Bowling, K. M., Kirby, M. K., Nesmith, A. S., Oliver, P. G., Grizzle, W. E., Forero, A., Buchsbaum, D. J., LoBuglio, A. F. & Myers, R. M., Jul 2014, In: Breast Cancer Research and Treatment. 146, 2, p. 287-297 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      120 Scopus citations
    • 2013

      Dynamic DNA methylation across diverse human cell lines and tissues

      Varley, K. E., Gertz, J., Bowling, K. M., Parker, S. L., Reddy, T. E., Pauli-Behn, F., Cross, M. K., Williams, B. A., Stamatoyannopoulos, J. A., Crawford, G. E., Absher, D. M., Wold, B. J. & Myers, R. M., Mar 2013, In: Genome research. 23, 3, p. 555-567 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      526 Scopus citations
    • 2012

      An integrated encyclopedia of DNA elements in the human genome

      Principal investigators (steering committee), Boise State University and University of North Carolina at Chapel Hill Proteomics groups (data production and analysis), Broad Institute Group (data production and analysis), Cold Spring Harbor University of Geneva Center for Genomic Regulation Barcelona RIKEN Sanger Institute University of Lausanne GenomeInstitute of Singapore group (data production and analysis), Data coordination center at UC Santa Cruz (production data coordination), Duke University EBI University of Texas Austin University of North Carolina-Chapel Hill group (data production and analysis), Genome Institute of Singapore group (data production and analysis), HudsonAlpha Institute Caltech UC Irvine Stanford group (data production and analysis), Lawrence Berkeley National Laboratory group (targeted experimental validation), NHGRI groups (data production and analysis), Sanger Institute Washington University Yale University Center for Genomic Regulation Barcelona UCSC MIT University of Lausanne CNIO group (data production and analysis), Stanford-Yale Harvard University of Massachusetts Medical School University of Southern California/UC Davis group (data production and analysis), University of Albany SUNY group (data production and analysis), University of Chicago Stanford group (data production and analysis), University of Heidelberg group (targeted experimental validation), University of Massachusetts Medical School Bioinformatics group (data production and analysis), University of Washington University of Massachusetts Medical Center group (data production and analysis), Data Analysis Center (data analysis), The ENCODE Project Consortium, Data production leads (data production), & 3 othersLead analysts (data analysis), Writing Group & NHGRI project management (scientific management), Sep 6 2012, In: Nature. 489, 7414, p. 57-74 18 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      11663 Scopus citations
    • 2011

      Analysis of dna methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation

      Gertz, J., Varley, K. E., Reddy, T. E., Bowling, K. M., Pauli, F., Parker, S. L., Kucera, K. S., Willard, H. F. & Myers, R. M., Aug 2011, In: PLoS genetics. 7, 8, e1002228.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      233 Scopus citations

    • A user's guide to the Encyclopedia of DNA elements (ENCODE)

      Myers, R. M., Stamatoyannopoulos, J., Snyder, M., Dunham, I., Hardison, R. C., Bernstein, B. E., Gingeras, T. R., Kent, W. J., Birney, E., Wold, B., Crawford, G. E., Epstein, C. B., Shoresh, N., Ernst, J., Mikkelsen, T. S., Kheradpour, P., Zhang, X., Wang, L., Issner, R., Coyne, M. J., & 295 othersDurham, T., Ku, M., Truong, T., Ward, L. D., Altshuler, R. C., Lin, M. F., Kellis, M., Davis, C. A., Kapranov, P., Dobin, A., Zaleski, C., Schlesinger, F., Batut, P., Chakrabortty, S., Jha, S., Lin, W., Drenkow, J., Wang, H., Bell, K., Bell, I., Gao, H., Dumais, E., Dumais, J., Antonarakis, S. E., Ucla, C., Borel, C., Guigo, R., Djebali, S., Lagarde, J., Kingswood, C., Ribeca, P., Sammeth, M., Alioto, T., Merkel, A., Tilgner, H., Carninci, P., Hayashizaki, Y., Lassmann, T., Takahashi, H., Abdelhamid, R. F., Hannon, G., Fejes, K. T., Preall, J., Gordon, A., Sotirova, V., Reymond, A., Howald, C., Graison, E. A. Y., Chrast, J., Ruan, Y., Ruan, X., Shahab, A., Poh, W. T., Wei, C. L., Furey, T. S., Boyle, A. P., Sheffield, N. C., Song, L., Shibata, Y., Vales, T., Winter, D., Zhang, Z., London, D., Wang, T., Keefe, D., Iyer, V. R., Lee, B. K., McDaniell, R. M., Liu, Z., Battenhouse, A., Bhinge, A. A., Lieb, J. D., Grasfeder, L. L., Showers, K. A., Giresi, P. G., Kim, S. K. C., Shestak, C., Pauli, F., Reddy, T. E., Gertz, J., Partridge, E. C., Jain, P., Sprouse, R. O., Bansal, A., Pusey, B., Muratet, M. A., Varley, K. E., Bowling, K. M., Newberry, K. M., Nesmith, A. S., Dilocker, J. A., Parker, S. L., Waite, L. L., Thibeault, K., Roberts, K., Absher, D. M., Mortazavi, A., Williams, B., Marinov, G., Trout, D., King, B., McCue, K., Kirilusha, A., DeSalvo, G., Fisher, K. A., Amrhein, H., Pepke, S., Vielmetter, J., Sherlock, G., Sidow, A., Batzoglou, S., Rauch, R., Kundaje, A., Libbrecht, M., Margulies, E. H., Parker, S. C. J., Elnitski, L., Green, E. D., Hubbard, T., Harrow, J., Searle, S., Kokocinski, F., Aken, B., Frankish, A., Hunt, T., Despacio-Reyes, G., Kay, M., Mukherjee, G., Bignell, A., Saunders, G., Boychenko, V., Brent, M., van Baren, M. J., Brown, R. H., Gerstein, M., Khurana, E., Balasubramanian, S., Lam, H., Cayting, P., Robilotto, R., Lu, Z., Derrien, T., Tanzer, A., Knowles, D. G., Mariotti, M., Haussler, D., Harte, R., Diekhans, M., Lin, M., Valencia, A., Tress, M., Landt, S. G., Raha, D., Shi, M., Euskirchen, G., Grubert, F., Kasowski, M., Lian, J., Lacroute, P., Xu, Y., Monahan, H., Patacsil, D., Slifer, T., Yang, X., Charos, A., Reed, B., Wu, L., Auerbach, R. K., Habegger, L., Hariharan, M., Rozowsky, J., Abyzov, A., Weissman, S. M., Struhl, K., Lamarre-Vincent, N., Lindahl-Allen, M., Miotto, B., Moqtaderi, Z., Fleming, J. D., Newburger, P., Farnham, P. J., Frietze, S., O'Geen, H., Xu, X., Blahnik, K. R., Cao, A. R., Iyengar, S., Kaul, R., Thurman, R. E., Wang, H., Navas, P. A., Sandstrom, R., Sabo, P. J., Weaver, M., Canfield, T., Lee, K., Neph, S., Roach, V., Reynolds, A., Johnson, A., Rynes, E., Giste, E., Vong, S., Neri, J., Frum, T., Nguyen, E. D., Ebersol, A. K., Sanchez, M. E., Sheffer, H. H., Lotakis, D., Haugen, E., Humbert, R., Kutyavin, T., Shafer, T., Noble, W. S., Dekker, J., Lajoie, B. R., Sanyal, A., Rosenbloom, K. R., Dreszer, T. R., Raney, B. J., Barber, G. P., Meyer, L. R., Sloan, C. A., Malladi, V. S., Cline, M. S., Learned, K., Swing, V. K., Zweig, A. S., Rhead, B., Fujita, P. A., Roskin, K., Karolchik, D., Kuhn, R. M., Wilder, S. P., Sobral, D., Herrero, J., Beal, K., Lukk, M., Brazma, A., Vaquerizas, J. M., Luscombe, N. M., Bickel, P. J., Boley, N., Brown, J. B., Li, Q., Huang, H., Sboner, A., Yip, K. Y., Cheng, C., Yan, K. K., Bhardwaj, N., Wang, J., Lochovsky, L., Jee, J., Gibson, T., Leng, J., Du, J., Harris, R. S., Song, G., Miller, W., Suh, B., Paten, B., Hoffman, M. M., Buske, O. J., Weng, Z., Dong, X., Wang, J., Xi, H., Tenenbaum, S. A., Doyle, F., Chittur, S., Penalva, L. O., Tullius, T. D., White, K. P., Karmakar, S., Victorsen, A., Jameel, N., Bild, N., Grossman, R. L., Collins, P. J., Trinklein, N. D., Giddings, M. C., Khatun, J., Maier, C., Wang, T., Whitfield, T. W., Chen, X., Yu, Y., Gunawardena, H., Feingold, E. A., Lowdon, R. F., Dillon, L. A. L., Good, P. J. & Risk, B., Apr 1 2011, In: PLoS biology. 9, 4, e1001046.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1146 Scopus citations
    • 2008

      Direct binding of GTP cyclohydrolase and tyrosine hydroxylase: Regulatory interactions between key enzymes in dopamine biosynthesis

      Bowling, K. M., Huang, Z., Xu, D., Ferdousy, F., Funderburk, C. D., Karnik, N., Neckameyer, W. & O'Donnell, J. M., Nov 14 2008, In: Journal of Biological Chemistry. 283, 46, p. 31449-31459 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      39 Scopus citations
    • 2007

      Interaction of genetic and environmental factors in a Drosophila parkinsonism model

      Chaudhuri, A., Bowling, K., Funderburk, C., Lawal, H., Inamdar, A., Wang, Z. & O'Donnell, J. M., Mar 7 2007, In: Journal of Neuroscience. 27, 10, p. 2457-2467 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      163 Scopus citations
    • 2006

      Atypical N-terminal extensions confer novel regulatory properties on GTP cyclohydrolase isoforms in Drosophila melanogaster

      Funderburk, C. D., Bowling, K. M., Xu, D., Huang, Z. & O'Donnell, J. M., Nov 3 2006, In: Journal of Biological Chemistry. 281, 44, p. 33302-33312 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      25 Scopus citations