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Don Conrad

Division Chief/Associate Professor

Calculated based on number of publications stored in Pure and citations from Scopus
20022024

Research activity per year

Search results

  • 2002

    Validation of Spanish Language Dyspepsia Questionnaire

    Goldman, J., Conrad, D. F., Ley, C., Halperin, D., Sanchez, M. D. L. L., Villacorta, R. & Parsonnet, J., 2002, In: Digestive diseases and sciences. 47, 3, p. 624-640 17 p.

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

    12 Scopus citations
  • 2006

    A high-resolution survey of deletion polymorphism in the human genome

    Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E. & Pritchard, J. K., Jan 2006, In: Nature genetics. 38, 1, p. 75-81 7 p.

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

    539 Scopus citations

  • A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

    Conrad, D. F., Jakobsson, M., Coop, G., Wen, X., Wall, J. D., Rosenberg, N. A. & Pritchard, J. K., Nov 23 2006, In: Nature genetics. 38, 11, p. 1251-1260 10 p.

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

    387 Scopus citations

  • Global variation in copy number in the human genome

    Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., Cho, E. K., Dallaire, S., Freeman, J. L., González, J. R., Gratacòs, M., Huang, J., Kalaitzopoulos, D., Komura, D., MacDonald, J. R., Marshall, C. R., & 23 othersMei, R., Montgomery, L., Nishimura, K., Okamura, K., Shen, F., Somerville, M. J., Tchinda, J., Valsesia, A., Woodwark, C., Yang, F., Zhang, J., Zerjal, T., Zhang, J., Armengol, L., Conrad, D. F., Estivill, X., Tyler-Smith, C., Carter, N. P., Aburatani, H., Lee, C., Jones, K. W., Scherer, S. W. & Hurles, M. E., Nov 23 2006, In: Nature. 444, 7118, p. 444-454 11 p.

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

    Open Access
    3413 Scopus citations

  • Mismatch induced speciation in Salmonella: Model and data

    Falush, D., Torpdahl, M., Didelot, X., Conrad, D. F., Wilson, D. J. & Achtman, M., Nov 29 2006, In: Philosophical Transactions of the Royal Society B: Biological Sciences. 361, 1475, p. 2045-2053 9 p.

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

    Open Access
    89 Scopus citations
  • 2007

    Population genetics and disease

    Conrad, D. F. & Pritchard, J. K., Jan 1 2007, Genes and Common Diseases. Cambridge University Press, p. 44-58 15 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

    1 Scopus citations

  • The population genetics of structural variation

    Conrad, D. F. & Hurles, M. E., Jul 2007, In: Nature genetics. 39, 7S, p. S30-S36

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

    Open Access
    156 Scopus citations
  • 2008

    Recurrent 16p11.2 microdeletions in autism

    Kumar, R. A., Karamohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B. & Christian, S. L., Feb 14 2008, In: Human molecular genetics. 17, 4, p. 628-638 11 p.

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

    Open Access
    563 Scopus citations

  • Using population mixtures to optimize the utility of genomic databases: Linkage disequilibrium and association study design in India

    Pemberton, T. J., Jakobsson, M., Conrad, D. F., Coop, G., Wall, J. D., Pritchard, J. K., Patel, P. I. & Rosenberg, N. A., Jul 2008, In: Annals of Human Genetics. 72, 4, p. 535-546 12 p.

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

    Open Access
    31 Scopus citations
  • 2009

    Haplotypic background of a private allele at high frequency in the Americas

    Schroeder, K. B., Jakobsson, M., Crawford, M. H., Schurr, T. G., Boca, S. M., Conrad, D. F., Tito, R. Y., Osipova, L. P., Tarskaia, L. A., Zhadanov, S. I., Wall, J. D., Pritchard, J. K., Malhi, R. S., Smith, D. G. & Rosenberg, N. A., May 2009, In: Molecular Biology and Evolution. 26, 5, p. 995-1016 22 p.

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

    Open Access
    57 Scopus citations

  • Inverted duplications on acentric markers: Mechanism of formation

    Murmann, A. E., Conrad, D. F., Mashek, H., Curtis, C. A., Nicolae, R. I., Ober, C. & Schwartz, S., 2009, In: Human molecular genetics. 18, 12, p. 2241-2256 16 p.

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

    Open Access
    25 Scopus citations

  • Population differentiation as an indicator of recent positive selection in humans: An empirical evaluation

    Xue, Y., Zhang, X., Huang, N., Daly, A., Gillson, C. J., MacArthur, D. G., Yngvadottir, B., Nica, A. C., Woodwark, C., Chen, Y., Conrad, D. F., Ayub, Q., Mehdi, S. Q., Li, P. & Tyler-Smith, C., Nov 2009, In: Genetics. 183, 3, p. 1065-1077 13 p.

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

    Open Access
    40 Scopus citations
  • 2010

    A map of human genome variation from population-scale sequencing

    Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., & 348 othersSchafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Wang, S. J., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, J., Wang, W., Yang, H., Zhang, X., Zheng, H., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Jaffe, D. B., Shefler, E., Sougnez, C. L., Bentley, I. D. R., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., Mc Kernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X., Guo, X., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, H., Zheng, X., Zhou, Y., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W. P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Ball, A. D., Banks, E., Browning, B. L., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shlyakhter, I. A., Cooper, D. N., Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Korbel, J. O., Stütz, A. M., Humphray, I. S., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Ye, K., Fu, Y., Hyland, F. C. L., Manning, J. M., Stephen, F. M., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Mark, A. B., Konkel, M. K., Walker, J. A., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., Gil, A. M., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Li, Y., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zöllner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Eichler, E. E., Aksay, G., Alkan, C., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., CenkSahinalp, S., Sudmant, P. H., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Wallis, J. W., Wendl, M. C., Zhang, Q., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Matt, E. H., Jin, H., Jostins, L., Keane, T. M., Quang Le, S., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Chris Tyler-Smith, T-S., Walter, K., Zhang, Y., Gerstein, M. B., Snyder, M., Abyzov, A., Balasubramanian, S., Bjornson, R., Grubert, F., Habegger, L., Haraksingh, R., Khurana, E., Lam, H. Y. K., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., McCarroll, S. A., Zheng-Bradley, X., Batzer, M. A., Hurles, M. E., Du, J., Jee, J., Coafra, C., Dinh, H., Kovar, C., Lee, S., Nazareth, L., Wilkinson, J., Coffey, A., Scott, C., Tyler-Smith, C., Gharani, N., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Duncanson, A., Green, E. D., Guyer, M. S. & Peterson, J. L., Oct 28 2010, In: Nature. 467, 7319, p. 1061-1073 13 p.

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

    Open Access
    6193 Scopus citations

  • A protein allergen microarray detects specific IgE to pollen surface, cytoplasmic, and commercial allergen extracts

    Vigh-Conrad, K. A., Conrad, D. F. & Preuss, D., 2010, In: PloS one. 5, 4, e10174.

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

    Open Access
    22 Scopus citations

  • Diversity of human copy number variation and multicopy genes

    Sudmant, P. H., Kitzman, J. O., Antonacci, F., Alkan, C., Malig, M., Tsalenko, A., Sampas, N., Bruhn, L., Shendure, J., Eichler, E. E., Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Collins, F. S., De La Vega, F. M., Donnelly, P., Egholm, M., & 343 othersFlicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., McVean, G. A., Nickerson, D. A., Peltonen, L., Schafer, A. J., Sherry, S. T., Wang, J., Wilson, R. K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Li, J., Jian, M., Li, G., Li, R., Liang, H., Tian, G., Wang, B., Wang, W., Yang, H., Zhang, X., Zheng, H., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Jaffe, D. B., Shefler, E., Sougnez, C. L., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X., Guo, X., Li, Y., Luo, R., Tai, S., Wu, H., Zheng, X., Zhou, Y., Marth, G. T., Garrison, E. P., Huang, W., Indap, A., Kural, D., Lee, W. P., Leong, W. F., Quinlan, A. R., Stewart, C., Stromberg, M. P., Ward, A. N., Wu, J., Lee, C., Mills, R. E., Shi, X., Daly, M. J., DePristo, M. A., Ball, A. D., Banks, E., Browning, B. L., Garimella, K. V., Grossman, S. R., Handsaker, R. E., Hanna, M., Hartl, C., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McCarroll, S. A., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shlyakhter, I. A., Cooper, D. N., Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Sebat, J., Makarov, V., Ye, K., Yoon, S. C., Bustamante, C. D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Zheng-Bradley, X., Korbel, J. O., Stütz, A. M., Bauer, M., Cheetham, R. K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Fu, Y., Hyland, F. C., Manning, J. M., McLaughlin, S. F., Peckham, H. E., Sakarya, O., Sun, Y. A., Tsung, E. F., Batzer, M. A., Konkel, M. K., Walker, J. A., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Agarwala, R., Khouri, H. M., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., Auton, A., Iqbal, Z., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Snyder, M., Zhan, X., Zöllner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Aksay, G., Hajirasouliha, I., Hormozdiari, F., Kidd, J. M., Sahinalp, S. C., Chen, K., Chinwalla, A., Ding, L., Koboldt, D. C., McLellan, M. D., Wallis, J. W., Wendl, M. C., Zhang, Q., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Chen, Y., Conrad, D. F., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Hurles, M. E., Jin, H., Jostins, L., Keane, T. M., Le, S. Q., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Tyler-Smith, C., Walter, K., Zhang, Y., Gerstein, M. B., Abyzov, A., Balasubramanian, S., Bjornson, R., Du, J., Grubert, F., Habegger, L., Haraksingh, R., Jee, J., Khurana, E., Lam, H. Y., Leng, J., Mu, X. J., Urban, A. E., Zhang, Z., Coafra, C., Dinh, H., Kovar, C., Lee, S., Nazareth, L., Wilkinson, J., Scott, C., Gharani, N., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Duncanson, A., Green, E. D., Guyer, M. S. & Peterson, J. L., Oct 29 2010, In: Science. 330, 6004, p. 641-646 6 p.

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

    Open Access
    525 Scopus citations

  • Dosage sensitivity shapes the evolution of copy-number varied regions

    Schuster-Böckler, B., Conrad, D. & Bateman, A., Mar 10 2010, In: PloS one. 5, 3, e9474.

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

    Open Access
    76 Scopus citations

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

    Craddock, N., Hurles, M. E., Cardin, N., Pearson, R. D., Plagnol, V., Robson, S., Vukcevic, D., Barnes, C., Conrad, D. F., Giannoulatou, E., Holmes, C., Marchini, J. L., Stirrups, K., Tobin, M. D., Wain, L. V., Yau, C., Aerts, J., Ahmad, T., Andrews, T. D., Arbury, H., & 197 othersAttwood, A., Auton, A., Ball, S. G., Balmforth, A. J., Barrett, J. C., Barroso, I., Barton, A., Bennett, A. J., Bhaskar, S., Blaszczyk, K., Bowes, J., Brand, O. J., Braund, P. S., Bredin, F., Breen, G., Brown, M. J., Bruce, I. N., Bull, J., Burren, O. S., Burton, J., Byrnes, J., Caesar, S., Clee, C. M., Coffey, A. J., Connell, J. M. C., Cooper, J. D., Dominiczak, A. F., Downes, K., Drummond, H. E., Dudakia, D., Dunham, A., Ebbs, B., Eccles, D., Edkins, S., Edwards, C., Elliot, A., Emery, P., Evans, D. M., Evans, G., Eyre, S., Farmer, A., Ferrier, I. N., Feuk, L., Fitzgerald, T., Flynn, E., Forbes, A., Forty, L., Franklyn, J. A., Freathy, R. M., Gibbs, P., Gilbert, P., Gokumen, O., Gordon-Smith, K., Gray, E., Green, E., Groves, C. J., Grozeva, D., Gwilliam, R., Hall, A., Hammond, N., Hardy, M., Harrison, P., Hassanali, N., Hebaishi, H., Hines, S., Hinks, A., Hitman, G. A., Hocking, L., Howard, E., Howard, P., Howson, J. M. M., Hughes, D., Hunt, S., Isaacs, J. D., Jain, M., Jewell, D. P., Johnson, T., Jolley, J. D., Jones, I. R., Jones, L. A., Kirov, G., Langford, C. F., Lango-Allen, H., Lathrop, G. M., Lee, J., Lee, K. L., Lees, C., Lewis, K., Lindgren, C. M., Maisuria-Armer, M., Maller, J., Mansfield, J., Martin, P., Massey, D. C. O., McArdle, W. L., McGuffin, P., McLay, K. E., Mentzer, A., Mimmack, M. L., Morgan, A. E., Morris, A. P., Mowat, C., Myers, S., Newman, W., Nimmo, E. R., O'Donovan, M. C., Onipinla, A., Onyiah, I., Ovington, N. R., Owen, M. J., Palin, K., Parnell, K., Pernet, D., Perry, J. R. B., Phillips, A., Pinto, D., Prescott, N. J., Prokopenko, I., Quail, M. A., Rafelt, S., Rayner, N. W., Redon, R., Reid, D. M., Renwick, A., Ring, S. M., Robertson, N., Russell, E., Clair, D. S., Sambrook, J. G., Sanderson, J. D., Schuilenburg, H., Scott, C. E., Scott, R., Seal, S., Shaw-Hawkins, S., Shields, B. M., Simmonds, M. J., Smyth, D. J., Somaskantharajah, E., Spanova, K., Steer, S., Stephens, J., Stevens, H. E., Stone, M. A., Su, Z., Symmons, D. P. M., Thompson, J. R., Thomson, W., Travers, M. E., Turnbull, C., Valsesia, A., Walker, M., Walker, N. M., Wallace, C., Warren-Perry, M., Watkins, N. A., Webster, J., Weedon, M. N., Wilson, A. G., Woodburn, M., Wordsworth, B. P., Young, A. H., Zeggini, E., Carter, N. P., Frayling, T. M., Lee, C., McVean, G., Munroe, P. B., Palotie, A., Sawcer, S. J., Scherer, S. W., Strachan, D. P., Tyler-Smith, C., Brown, M. A., Burton, P. R., Caulfield, M. J., Compston, A., Farrall, M., Gough, S. C. L., Hall, A. S., Hattersley, A. T., Hill, A. V. S., Mathew, C. G., Pembrey, M., Satsangi, J., Stratton, M. R., Worthington, J., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., Ouwehand, W. H., Parkes, M., Rahman, N., Todd, J. A., Samani, N. J. & Donnelly, P., Apr 1 2010, In: Nature. 464, 7289, p. 713-720 8 p.

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

    Open Access
    661 Scopus citations

  • Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

    Conrad, D. F., Bird, C., Blackburne, B., Lindsay, S., Mamanova, L., Lee, C., Turner, D. J. & Hurles, M. E., May 2010, In: Nature genetics. 42, 5, p. 385-391 7 p.

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

    Open Access
    191 Scopus citations

  • Origins and functional impact of copy number variation in the human genome

    Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., Campbell, P., Fitzgerald, T., Hu, M., Ihm, C. H., Kristiansson, K., MacArthur, D. G., MacDonald, J. R., Onyiah, I., Pang, A. W. C., Robson, S., Stirrups, K., & 8 othersValsesia, A., Walter, K., Wei, J., Tyler-Smith, C., Carter, N. P., Lee, C., Scherer, S. W. & Hurles, M. E., Apr 1 2010, In: Nature. 464, 7289, p. 704-712 9 p.

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

    Open Access
    1461 Scopus citations

  • The sperm epigenome: A role in embryogenesis and fetal health?

    Conrad, D. F. & Dorais, J., Jan 1 2010, Paternal Influences on Human Reproductive Success. Cambridge University Press, p. 16-26 11 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • The sperm genome: Effect of aneuploidies, structural variations, single nucleotide changes, and DNA damage on embryogenesis and development

    Aston, K. I. & Conrad, D. F., Jan 1 2010, Paternal Influences on Human Reproductive Success. Cambridge University Press, p. 6-15 10 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Towards a comprehensive structural variation map of an individual human genome

    Pang, A. W., MacDonald, J. R., Pinto, D., Wei, J., Rafiq, M. A., Conrad, D. F., Park, H., Hurles, M. E., Lee, C., Venter, J. C., Kirkness, E. F., Levy, S., Feuk, L. & Scherer, S. W., May 19 2010, In: Genome biology. 11, 5, R52.

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

    Open Access
    227 Scopus citations
  • 2011

    Mapping copy number variation by population-scale genome sequencing

    Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., Cheetham, R. K., Chinwalla, A., Conrad, D. F., Fu, Y., Grubert, F., Hajirasouliha, I., Hormozdiari, F., Iakoucheva, L. M., Iqbal, Z., Kang, S., Kidd, J. M., & 352 othersKonkel, M. K., Korn, J., Khurana, E., Kural, D., Lam, H. Y. K., Leng, J., Li, R., Li, Y., Lin, C. Y., Luo, R., Mu, X. J., Nemesh, J., Peckham, H. E., Rausch, T., Scally, A., Shi, X., Stromberg, M. P., Sütz, A. M., Urban, A. E., Walker, J. A., Wu, J., Zhang, Y., Zhang, Z. D., Batzer, M. A., Ding, L., Marth, G. T., McVean, G., Sebat, J., Snyder, M., Wang, J., Ye, K., Eichler, E. E., Gerstein, M. B., Hurles, M. E., Lee, C., McCarroll, S. A., Korbel, J. O., Collins, F. S., Altshuler, D. L., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., De La Vega, F. M., Donnelly, P., Egholm, M., Flicek, P., Gabriel, S. B., Gibbs, R. A., Knoppers, B. M., Lander, E. S., Lehrach, H., Mardis, E. R., Nickerson, D. A., Peltonen, L., Schafer, A. J., Sherry, S. T., Wilson, R. K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Li, J., Jian, M., Li, G., Liang, H., Tian, G., Wang, B., Wang, W., Yang, H., Zhang, X., Zheng, H., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T. J., Jaffe, D. B., Shefler, E., Sougnez, C. L., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K. J., Costa, G. L., Ichikawa, J. K., Lee, C. C., Sudbrak, R., Borodina, T. A., Dahl, A., Davydov, A. N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A. V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D. M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H. P., Turner, D., De Witte, A., Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X., Guo, X., Tai, S., Wu, H., Zheng, X., Zhou, Y., Garrison, E. P., Huang, W., Indap, A., Lee, W. P., Leong, W. F., Quinlan, A. R., Ward, A. N., Daly, M. J., DePristo, M. A., Ball, A. D., Banks, E., Browning, B. L., Garimella, K. V., Grossman, S. R., Hanna, M., Hartl, C., Kernytsky, A. M., Korn, J. M., Li, H., Maguire, J. R., McKenna, A., Nemesh, J. C., Philippakis, A. A., Poplin, R. E., Price, A., Rivas, M. A., Sabeti, P. C., Schaffner, S. F., Shlyakhter, I. A., Cooper, D. N., Ball, E. V., Mort, M., Phillips, A. D., Stenson, P. D., Makarov, V., Bustamante, C. D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R. N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Smith, R. E., Zalunin, V., Zheng-Bradley, X., Stütz, A. M., Bauer, M., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Hyland, F. C., Manning, J. M., McLaughlin, S. F., Sakarya, O., Sun, Y. A., Tsung, E. F., Albrecht, M. W., Amstislavskiy, V. S., Herwig, R., Parkhomchuk, D. V., Agarwala, R., Khouri, H., Morgulis, A. O., Paschall, J. E., Phan, L. D., Rotmistrovsky, K. E., Sanders, R. D., Shumway, M. F., Xiao, C., Auton, A., Lunter, G., Marchini, J. L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D. W., Beckstrom-Sternberg, S. M., Christoforides, A., Kurdoglu, A. A., Pearson, J. V., Sinari, S. A., Tembe, W. D., Haussler, D., Hinrichs, A. S., Katzman, S. J., Kern, A., Kuhn, R. M., Przeworski, M., Hernandez, R. D., Howie, B., Kelley, J. L., Melton, S. C., Anderson, P., Blackwell, T., Chen, W., Cookson, W. O., Ding, J., Kang, H. M., Lathrop, M., Liang, L., Moffatt, M. F., Scheet, P., Sidore, C., Zhan, X., Zöllner, S., Awadalla, P., Casals, F., Idaghdour, Y., Keebler, J., Stone, E. A., Zilversmit, M., Jorde, L., Xing, J., Aksay, G., Sahinalp, S. C., Sudmant, P. H., Koboldt, D. C., McLellan, M. D., Wallis, J. W., Wendl, M. C., Zhang, Q., Albers, C. A., Ayub, Q., Balasubramaniam, S., Barrett, J. C., Chen, Y., Danecek, P., Dermitzakis, E. T., Hu, M., Huang, N., Jin, H., Jostins, L., Keane, T. M., Le, S. Q., Lindsay, S., Long, Q., MacArthur, D. G., Montgomery, S. B., Parts, L., Tyler-Smith, C., Balasubramanian, S., Bjornson, R., Du, J., Habegger, L., Haraksingh, R., Jee, J., Lam, H. Y., Jeng, J., Zhang, Z., Bank, E., Yoon, S., Kidd, J., Coafra, C., Dinh, H., Kovar, C., Lee, S., Nazareth, L., Wilkinson, J., Khouri, H. M., Scott, C., Gharani, N., Kaye, J. S., Kent, A., Li, T., McGuire, A. L., Ossorio, P. N., Rotimi, C. N., Su, Y., Toji, L. H., Brooks, L. D., Felsenfeld, A. L., McEwen, J. E., Abdallah, A., Juenger, C. R., Clemm, N. C., Duncanson, A., Green, E. D., Guyer, M. S. & Peterson, J. L., Feb 3 2011, In: Nature. 470, 7332, p. 59-65 7 p.

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

    Open Access
    858 Scopus citations

  • Variation in genome-wide mutation rates within and between human families

    Conrad, D. F., Keebler, J. E. M., Depristo, M. A., Lindsay, S. J., Zhang, Y., Casals, F., Idaghdour, Y., Hartl, C. L., Torroja, C., Garimella, K. V., Zilversmit, M., Cartwright, R., Rouleau, G. A., Daly, M., Stone, E. A., Hurles, M. E. & Awadalla, P., Jul 2011, In: Nature genetics. 43, 7, p. 712-714 3 p.

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

    Open Access
    417 Scopus citations
  • 2012

    A systematic survey of loss-of-function variants in human protein-coding genes

    MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., Albers, C. A., Zhang, Z. D., Conrad, D. F., Lunter, G., Zheng, H., Ayub, Q., DePristo, M. A., Banks, E., Hu, M., Handsaker, R. E., & 31 othersRosenfeld, J. A., Fromer, M., Jin, M., Mu, X. J., Khurana, E., Ye, K., Kay, M., Saunders, G. I., Suner, M. M., Hunt, T., Barnes, I. H. A., Amid, C., Carvalho-Silva, D. R., Bignell, A. H., Snow, C., Yngvadottir, B., Bumpstead, S., Cooper, D. N., Xue, Y., Romero, I. G., Wang, J., Li, Y., Gibbs, R. A., McCarroll, S. A., Dermitzakis, E. T., Pritchard, J. K., Barrett, J. C., Harrow, J., Hurles, M. E., Gerstein, M. B. & Tyler-Smith, C., Feb 17 2012, In: Science. 335, 6070, p. 823-828 6 p.

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

    Open Access
    915 Scopus citations

  • Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data

    Hu, M., Ayub, Q., Guerra-Assunção, J. A., Long, Q., Ning, Z., Huang, N., Romero, I. G., Mamanova, L., Akan, P., Liu, X., Coffey, A. J., Turner, D. J., Swerdlow, H., Burton, J., Quail, M. A., Conrad, D. F., Enright, A. J., Tyler-Smith, C. & Xue, Y., May 2012, In: Human genetics. 131, 5, p. 665-674 10 p.

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

    Open Access
    8 Scopus citations

  • Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

    Grozeva, D., Conrad, D. F., Barnes, C. P., Hurles, M., Owen, M. J., O'Donovan, M. C., Craddock, N. & Kirov, G., Mar 2012, In: Schizophrenia Research. 135, 1-3, p. 1-7 7 p.

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

    Open Access
    69 Scopus citations

  • Seven newly identified loci for autoimmune thyroid disease

    Wellcome Trust Case Control Consortium, Dec 1 2012, In: Human molecular genetics. 21, 23, p. 5202-5208 7 p.

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

    Open Access
    128 Scopus citations
  • 2013

    A review of genome-wide approaches to study the genetic basis for spermatogenic defects

    Aston, K. I. & Conrad, D. F., 2013, Biomolecular Simulations: Biomolecular Simulations. Humana Press Inc., p. 397-410 14 p. (Methods in Molecular Biology; vol. 927).

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

    33 Scopus citations

  • DeNovoGear: De novo indel and point mutation discovery and phasing

    Ramu, A., Noordam, M. J., Schwartz, R. S., Wuster, A., Hurles, M. E., Cartwright, R. A. & Conrad, D. F., Oct 2013, In: Nature Methods. 10, 10, p. 985-987 3 p.

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

    Open Access
    126 Scopus citations

  • Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

    Lopes, A. M., Aston, K. I., Thompson, E., Carvalho, F., Gonçalves, J., Huang, N., Matthiesen, R., Noordam, M. J., Quintela, I., Ramu, A., Seabra, C., Wilfert, A. B., Dai, J., Downie, J. M., Fernandes, S., Guo, X., Sha, J., Amorim, A., Barros, A., Carracedo, A., & 10 othersHu, Z., Hurles, M. E., Moskovtsev, S., Ober, C., Paduch, D. A., Schiffman, J. D., Schlegel, P. N., Sousa, M., Carrell, D. T. & Conrad, D. F., 2013, In: PLoS genetics. 9, 3, e1003349.

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

    Open Access
    112 Scopus citations

  • Novel Loci Associated with Increased Risk of Sudden Cardiac Death in the Context of Coronary Artery Disease

    WTCCC+, Apr 4 2013, In: PloS one. 8, 4, e59905.

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

    Open Access
    25 Scopus citations

  • Reduced burden of very large and rare CNVs in bipolar affective disorder

    Grozeva, D., Kirov, G., Conrad, D. F., Barnes, C. P., Hurles, M., Owen, M. J., O'Donovan, M. C. & Craddock, N., Dec 2013, In: Bipolar Disorders. 15, 8, p. 893-898 6 p.

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

    24 Scopus citations
  • 2014

    Cis and Trans Effects of Human Genomic Variants on Gene Expression

    Bryois, J., Buil, A., Evans, D. M., Kemp, J. P., Montgomery, S. B., Conrad, D. F., Ho, K. M., Ring, S., Hurles, M., Deloukas, P., Davey Smith, G. & Dermitzakis, E. T., Jul 2014, In: PLoS genetics. 10, 7, e1004461.

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

    Open Access
    92 Scopus citations

  • Clonal Architecture of Secondary Acute Myeloid Leukemia Defined by Single-Cell Sequencing

    Hughes, A. E. O., Magrini, V., Demeter, R., Miller, C. A., Fulton, R., Fulton, L. L., Eades, W. C., Elliott, K., Heath, S., Westervelt, P., Ding, L., Conrad, D. F., White, B. S., Shao, J., Link, D. C., DiPersio, J. F., Mardis, E. R., Wilson, R. K., Ley, T. J., Walter, M. J., & 1 othersGraubert, T. A., Jul 2014, In: PLoS genetics. 10, 7, e1004462.

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

    Open Access
    101 Scopus citations

  • Guidelines for investigating causality of sequence variants in human disease

    MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., & 7 othersPennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W. & Gunter, C., 2014, In: Nature. 508, 7497, p. 469-476 8 p.

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

    Open Access
    977 Scopus citations

  • Reciprocal duplication of the williams-beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

    Mulle, J. G., Pulver, A. E., McGrath, J. A., Wolyniec, P. S., Dodd, A. F., Cutler, D. J., Sebat, J., Malhotra, D., Nestadt, G., Conrad, D. F., Hurles, M., Barnes, C. P., Ikeda, M., Iwata, N., Levinson, D. F., Gejman, P. V., Sanders, A. R., Duan, J., Mitchell, A. A., Peter, I., & 10 othersSklar, P., O'Dushlaine, C. T., Grozeva, D., O'Donovan, M. C., Owen, M. J., Hultman, C. M., Kähler, A. K., Sullivan, P. F., Kirov, G. & Warren, S. T., Mar 1 2014, In: Biological Psychiatry. 75, 5, p. 371-377 7 p.

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

    Open Access
    61 Scopus citations

  • Validating single-cell genomics for the study of renal development

    Jain, S., Noordam, M. J., Hoshi, M., Vallania, F. L. & Conrad, D. F., Nov 5 2014, In: Kidney International. 86, 5, p. 1049-1055 7 p.

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

    Open Access
    2 Scopus citations
  • 2015

    A screen for genomic disorders of infertility identifies MAST2 duplications associated with nonobstructive azoospermia in humans

    Huang, N., Wen, Y., Guo, X., Li, Z., Dai, J., Ni, B., Yu, J., Lin, Y., Zhou, W., Yao, B., Jiang, Y., Sha, J., Conrad, D. F. & Hu, Z., Sep 1 2015, In: Biology of reproduction. 93, 3, 61.

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

    Open Access
    29 Scopus citations

  • Effect of predicted protein-truncating genetic variants on the human transcriptome

    GTEx Consortium & Geuvadis Consortium, May 8 2015, In: Science. 348, 6235, p. 666-669 4 p.

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

    Open Access
    183 Scopus citations

  • Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility

    Ho, N. R. Y., Huang, N. & Conrad, D. F., Nov 1 2015, In: Andrology. 3, 6, p. 1140-1149 10 p.

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

    Open Access
    2 Scopus citations

  • Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men

    Ni, B., Lin, Y., Sun, L., Zhu, M., Li, Z., Wang, H., Yu, J., Guo, X., Zuo, X., Dong, J., Xia, Y., Wen, Y., Wu, H., Li, H., Zhu, Y., Ping, P., Chen, X., Dai, J., Jiang, Y., Xu, P., & 18 othersDu, Q., Yao, B., Weng, N., Lu, H., Wang, Z., Zhu, X., Yang, X., Xiong, C., Ma, H., Jin, G., Xu, J., Wang, X., Zhou, Z., Liu, J., Zhang, X., Conrad, D. F., Hu, Z. & Sha, J., Oct 1 2015, In: Human molecular genetics. 24, 19, p. 5628-5636 9 p.

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

    Open Access
    9 Scopus citations

  • Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

    Lima, A. C., Carvalho, F., Gonçalves, J., Fernandes, S., Marques, P. I., Sousa, M., Barros, A., Seixas, S., Amorim, A., Conrad, D. F. & Lopes, A. M., Sep 1 2015, In: Andrology. 3, 5, p. 825-833 9 p.

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

    Open Access
    14 Scopus citations

  • Using whole-genome sequences of the LG/J and SM/J inbred mouse strains to prioritize quantitative trait genes and nucleotides

    Nikolskiy, I., Conrad, D. F., Chun, S., Fay, J. C., Cheverud, J. M. & Lawson, H. A., Dec 12 2015, In: BMC Genomics. 16, 1, 415.

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

    Open Access
    22 Scopus citations
  • 2016

    A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

    The International IBD Genetics Consortium, May 5 2016, In: American Journal of Human Genetics. 98, 5, p. 857-868 12 p.

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

    Open Access
    12 Scopus citations

  • Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

    Wong, S. Y. W., Gadomski, T., Kozicz, T., Morava, E., Beamer, L. J., Honzik, T., Mohamed, M., Morava, E., Wortmann, S. B., Brocke Holmefjord, K. S., Mork, M., Bowling, F., Sykut-Cegielska, J., Koch, D., Ackermann, A., Stanley, C. A., Rymen, D., Zeharia, A., Al-Sayed, M., Marquardt, T., & 3 othersJaeken, J., Lefeber, D. & Conrad, D. F., Aug 1 2016, In: Journal of Pediatrics. 175, p. 130-136.e8

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

    Open Access
    42 Scopus citations

  • Genome-wide significance testing of variation from single case exomes

    Wilfert, A. B., Chao, K. R., Kaushal, M., Jain, S., Zöllner, S., Adams, D. R. & Conrad, D. F., Dec 1 2016, In: Nature genetics. 48, 12, p. 1455-1461 7 p.

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

    Open Access
    31 Scopus citations

  • Multispecies purification of testicular germ cells

    Lima, A. C., Jung, M., Rusch, J., Usmani, A., Lopes, A. M. & Conrad, D. F., Oct 1 2016, In: Biology of reproduction. 95, 4, 85.

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

    Open Access
    9 Scopus citations
  • 2017

    A standardized approach for multispecies purification of mammalian male germ cells by mechanical tissue dissociation and flow cytometry

    Lima, A. C., Jung, M., Rusch, J., Usmani, A., Lopes, A. M. & Conrad, D. F., Jul 12 2017, In: Journal of Visualized Experiments. 2017, 125, e55913.

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

    Open Access
    6 Scopus citations

  • Co-expression networks reveal the tissue-specific regulation of transcription and splicing

    The GTEx Consortium, Jan 1 2017, In: Genome Research. 27, 11, p. 1843-1858 16 p.

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

    Open Access
    104 Scopus citations