Kevin Bowling

2025

Age, Sex, and Anatomical Location Patterns in Cutaneous Pyogenic Granuloma Cases

Dube, U., Corliss, M., Bowling, K. M., Heusel, J. W. & Coughlin, C. C., Mar 19 2025, In: JAMA Dermatology. 161, 3, p. 305-309 5 p.

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

1 Scopus citations

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations

Ghasemi, R., Corliss, M. M., Bowling, K. M., Krysiak, K., Walker, J., Dickson, A. M., Schroeder, M. C., Parikh, B. A., Neidich, J. A., Polonis, K. & Cao, Y., Apr 2025, In: Clinical Genetics. 107, 4, p. 458-462 5 p.

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

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

Marsh, J. A., Huang, G., Bowling, K., Renton, A. E., Ziegemeier, E., Ball, T., Pottier, C., Cruchaga, C., Day, G., Bateman, R., Llibre-Guerra, J. J., McDade, E. & Karch, C. M., Apr 2025, In: Neurotherapeutics. 22, 3, e00527.

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

Open Access

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism

Leon-Quintero, F. Z., Bowling, K. M., Dickson, A., Corliss, M. M., Schroeder, M. C., Neidich, J. A., Heusel, J. W., Krysiak, K., Polonis, K., Parikh, B. A. & Cao, Y., Mar 2025, In: Clinical Genetics. 107, 3, p. 261-270 10 p.

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

Open Access

2 Scopus citations

2023

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Lemke, A. A., Thompson, M. L., Gimpel, E. C., McNamara, K. C., Rich, C. A., Finnila, C. R., Cochran, M. E., Lawlor, J. M. J., East, K. M., Bowling, K. M., Latner, D. R., Hiatt, S. M., Amaral, M. D., Kelley, W. V., Greve, V., Gray, D. E., Felker, S. A., Meddaugh, H., Cannon, A. & Luedecke, A. & 21 others, Jackson, K. E., Hendon, L. G., Janani, H. M., Johnston, M., Merin, L. A., Deans, S. L., Tuura, C., Hughes, T., Williams, H., Laborde, K., Neu, M. B., Patrick-Esteve, J., Hurst, A. C. E., Kirmse, B. M., Savich, R., Spedale, S. B., Knight, S. J., Barsh, G. S., Korf, B. R., Cooper, G. M. & Brothers, K. B., Jul 2023, In: Journal of Personalized Medicine. 13, 7, 1026.

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

Open Access

8 Scopus citations

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

Felker, S. A., Lawlor, J. M. J., Hiatt, S. M., Thompson, M. L., Latner, D. R., Finnila, C. R., Bowling, K. M., Bonnstetter, Z. T., Bonini, K. E., Kelly, N. R., Kelley, W. V., Hurst, A. C. E., Rashid, S., Kelly, M. A., Nakouzi, G., Hendon, L. G., Bebin, E. M., Kenny, E. E. & Cooper, G. M., Aug 2023, In: Genetics in Medicine. 25, 8, 100884.

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

Open Access

7 Scopus citations

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 others, Merin, 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

37 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

9 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

25 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

8 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

35 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 others, van 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

17 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

Open Access

21 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 others, Rolf, 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

60 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

15 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 others, Kauffman, 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 others, Kauffman, 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

117 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 others, Grange, 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

27 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

13 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

21 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

15 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

54 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

28 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 others, Cooper, G. M., Jul 2018, In: Clinical Genetics. 94, 1, p. 174-178 5 p.

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

Open Access

36 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 others, Hegde, 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

69 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

34 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 others, Bebin, E. M. & Cooper, G. M., May 30 2017, In: Genome medicine. 9, 1, 43.

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

Open Access

204 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 others, Charng, 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

54 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

139 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 others, Fullerton, 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

120 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 others, Milosavljevic, 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

105 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. & 252 others, Fullerton, 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., 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., 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

21 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 others, Baulac, S., 2016, In: Neurology: Genetics. 2, 6, e118.

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

Open Access

121 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 others, Milosavljevic, 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

369 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 others, Pugh, 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

57 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

138 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

569 Scopus citations

2012

An integrated encyclopedia of DNA elements in the human genome

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

Open Access

13084 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

241 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 others, Durham, 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

1201 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

43 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

174 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

Kevin Bowling

Research output

Search results