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Harry Ostrer, M.D.

Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
1980 …2023

Research activity per year

Search results

  • 2023

    Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    The Biobank Japan Project, Dec 2023, In: Nature Genetics. 55, 12, p. 2065-2074 10 p.

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

    Open Access
    4 Scopus citations

  • Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

    Wu, Y., Gettler, K., Kars, M. E., Giri, M., Li, D., Bayrak, C. S., Zhang, P., Jain, A., Maffucci, P., Sabic, K., Van Vleck, T., Nadkarni, G., Denson, L. A., Ostrer, H., Levine, A. P., Schiff, E. R., Segal, A. W., Kugathasan, S., Stenson, P. D., Cooper, D. N., & 11 othersPhilip Schumm, L., Snapper, S., Daly, M. J., Haritunians, T., Duerr, R. H., Silverberg, M. S., Rioux, J. D., Brant, S. R., McGovern, D. P. B., Cho, J. H. & Itan, Y., Dec 2023, In: Nature communications. 14, 1, 2256.

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

    Open Access
    1 Scopus citations
  • 2022

    Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency

    Alim, I., Loke, J., Yam, S., Templeton, A. S., Newcomb, P., Lindor, N. M., Pai, R. K., Jenkins, M. A., Buchanan, D. D., Gallinger, S., Klugman, S. & Ostrer, H., Sep 2022, In: Genetics in Medicine. 24, 9, p. 1821-1830 10 p.

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

    Open Access
    2 Scopus citations

  • Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

    Waldman, S., Backenroth, D., Harney, É., Flohr, S., Neff, N. C., Buckley, G. M., Fridman, H., Akbari, A., Rohland, N., Mallick, S., Olalde, I., Cooper, L., Lomes, A., Lipson, J., Cano Nistal, J., Yu, J., Barzilai, N., Peter, I., Atzmon, G., Ostrer, H., & 12 othersLencz, T., Maruvka, Y. E., Lämmerhirt, M., Beider, A., Rutgers, L. V., Renson, V., Prufer, K. M., Schiffels, S., Ringbauer, H., Sczech, K., Carmi, S. & Reich, D., Dec 8 2022, In: Cell. 185, 25, p. 4703-4716.e16

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

    Open Access
    10 Scopus citations

  • Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Belgium IBD Consortium, Cedars-Sinai IBD, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, NIHR IBD BioResource, Regeneron Genetics Center, SHARE Consortium, SPARC IBD Network & UK IBD Genetics Consortium, Sep 2022, In: Nature Genetics. 54, 9, p. 1275-1283 9 p.

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

    Open Access
    44 Scopus citations

  • Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review

    Ostrer, H., Nov 1 2022, In: Sexual Development. 16, 2-3, p. 92-97 6 p.

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

    Open Access
    2 Scopus citations

  • Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells

    Loke, J., Alim, I., Yam, S., Klugman, S., Xia, L. C., Gruber, D., Tegay, D., LaBella, A., Onel, K. & Ostrer, H., Apr 14 2022, In: Human Genetics and Genomics Advances. 3, 2, 100085.

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

    Open Access
    1 Scopus citations
  • 2021

    Health care professionals’ attitudes toward cancer gene panel testing

    Klugman, S., Schnabel, F., Alim, I., Loke, J., Arun, B., Chun Kim, J. & Ostrer, H., May 2021, In: Breast Journal. 27, 5, p. 499-500 2 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    1 Scopus citations

  • Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

    Lencz, T., Yu, J., Khan, R. R., Flaherty, E., Carmi, S., Lam, M., Ben-Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., Cho, J. H., Clark, L. N., Gümüş, Z. H., Vijai, J., Klein, R. J., Lipkin, S., Offit, K., Ostrer, H., Ozelius, L. J., Peter, I., & 4 othersMalhotra, A. K., Maniatis, T., Atzmon, G. & Pe'er, I., May 5 2021, In: Neuron. 109, 9, p. 1465-1478.e4

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

    Open Access
    16 Scopus citations

  • Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)

    Conti, D. V., Darst, B. F., Moss, L. C., Saunders, E. J., Sheng, X., Chou, A., Schumacher, F. R., Olama, A. A. A., Benlloch, S., Dadaev, T., Brook, M. N., Sahimi, A., Hoffmann, T. J., Takahashi, A., Matsuda, K., Momozawa, Y., Fujita, M., Muir, K., Lophatananon, A., Wan, P., & 211 othersLe Marchand, L., Wilkens, L. R., Stevens, V. L., Gapstur, S. M., Carter, B. D., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Giles, G. G., Southey, M. C., MacInnis, R. J., Cybulski, C., Wokołorczyk, D., Lubiński, J., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bojesen, S. E., Røder, M. A., Iversen, P., Batra, J., Chambers, S., Moya, L., Horvath, L., Clements, J. A., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Szulkin, R., Eklund, M., Nordström, T., Pashayan, N., Dunning, A. M., Ghoussaini, M., Travis, R. C., Key, T. J., Riboli, E., Park, J. Y., Sellers, T. A., Lin, H. Y., Albanes, D., Weinstein, S. J., Mucci, L. A., Giovannucci, E., Lindstrom, S., Kraft, P., Hunter, D. J., Penney, K. L., Turman, C., Tangen, C. M., Goodman, P. J., Thompson, I. M., Hamilton, R. J., Fleshner, N. E., Finelli, A., Parent, M. É., Stanford, J. L., Ostrander, E. A., Geybels, M. S., Koutros, S., Freeman, L. E. B., Stampfer, M., Wolk, A., Håkansson, N., Andriole, G. L., Hoover, R. N., Machiela, M. J., Sørensen, K. D., Borre, M., Blot, W. J., Zheng, W., Yeboah, E. D., Mensah, J. E., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Wu, Y., Zhao, S. C., Sun, Z., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., West, C. M. L., Burnet, N., Barnett, G., Maier, C., Schnoeller, T., Luedeke, M., Kibel, A. S., Drake, B. F., Cussenot, O., Cancel-Tassin, G., Menegaux, F., Truong, T., Koudou, Y. A., John, E. M., Grindedal, E. M., Maehle, L., Khaw, K. T., Ingles, S. A., Stern, M. C., Vega, A., Gómez-Caamaño, A., Fachal, L., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Teixeira, M. R., Paulo, P., Brandão, A., Watya, S., Lubwama, A., Bensen, J. T., Fontham, E. T. H., Mohler, J., Taylor, J. A., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Cannon-Albright, L., Teerlink, C. C., Huff, C. D., Strom, S. S., Multigner, L., Blanchet, P., Brureau, L., Kaneva, R., Slavov, C., Mitev, V., Leach, R. J., Weaver, B., Brenner, H., Cuk, K., Holleczek, B., Saum, K. U., Klein, E. A., Hsing, A. W., Kittles, R. A., Murphy, A. B., Logothetis, C. J., Kim, J., Neuhausen, S. L., Steele, L., Ding, Y. C., Isaacs, W. B., Nemesure, B., Hennis, A. J. M., Carpten, J., Pandha, H., Michael, A., De Ruyck, K., De Meerleer, G., Ost, P., Xu, J., Razack, A., Lim, J., Teo, S. H., Newcomb, L. F., Lin, D. W., Fowke, J. H., Neslund-Dudas, C., Rybicki, B. A., Gamulin, M., Lessel, D., Kulis, T., Usmani, N., Singhal, S., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Bush, W. S., Aldrich, M. C., Crawford, D. C., Srivastava, S., Cullen, J. C., Petrovics, G., Casey, G., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Hu, J. J., Sanderson, M., Varma, R., McKean-Cowdin, R., Torres, M., Mancuso, N., Berndt, S. I., Van Den Eeden, S. K., Easton, D. F., Chanock, S. J., Cook, M. B., Wiklund, F., Nakagawa, H., Witte, J. S., Eeles, R. A., Kote-Jarai, Z. & Haiman, C. A., Mar 2021, In: Nature Genetics. 53, 3, p. 413 1 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    4 Scopus citations

  • Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

    Conti, D. V., Darst, B. F., Moss, L. C., Saunders, E. J., Sheng, X., Chou, A., Schumacher, F. R., Olama, A. A. A., Benlloch, S., Dadaev, T., Brook, M. N., Sahimi, A., Hoffmann, T. J., Takahashi, A., Matsuda, K., Momozawa, Y., Fujita, M., Muir, K., Lophatananon, A., Wan, P., & 211 othersLe Marchand, L., Wilkens, L. R., Stevens, V. L., Gapstur, S. M., Carter, B. D., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Giles, G. G., Southey, M. C., MacInnis, R. J., Cybulski, C., Wokołorczyk, D., Lubiński, J., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bojesen, S. E., Røder, M. A., Iversen, P., Batra, J., Chambers, S., Moya, L., Horvath, L., Clements, J. A., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Szulkin, R., Eklund, M., Nordström, T., Pashayan, N., Dunning, A. M., Ghoussaini, M., Travis, R. C., Key, T. J., Riboli, E., Park, J. Y., Sellers, T. A., Lin, H. Y., Albanes, D., Weinstein, S. J., Mucci, L. A., Giovannucci, E., Lindstrom, S., Kraft, P., Hunter, D. J., Penney, K. L., Turman, C., Tangen, C. M., Goodman, P. J., Thompson, I. M., Hamilton, R. J., Fleshner, N. E., Finelli, A., Parent, M. É., Stanford, J. L., Ostrander, E. A., Geybels, M. S., Koutros, S., Freeman, L. E. B., Stampfer, M., Wolk, A., Håkansson, N., Andriole, G. L., Hoover, R. N., Machiela, M. J., Sørensen, K. D., Borre, M., Blot, W. J., Zheng, W., Yeboah, E. D., Mensah, J. E., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Wu, Y., Zhao, S. C., Sun, Z., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., West, C. M. L., Burnet, N., Barnett, G., Maier, C., Schnoeller, T., Luedeke, M., Kibel, A. S., Drake, B. F., Cussenot, O., Cancel-Tassin, G., Menegaux, F., Truong, T., Koudou, Y. A., John, E. M., Grindedal, E. M., Maehle, L., Khaw, K. T., Ingles, S. A., Stern, M. C., Vega, A., Gómez-Caamaño, A., Fachal, L., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Teixeira, M. R., Paulo, P., Brandão, A., Watya, S., Lubwama, A., Bensen, J. T., Fontham, E. T. H., Mohler, J., Taylor, J. A., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Cannon-Albright, L., Teerlink, C. C., Huff, C. D., Strom, S. S., Multigner, L., Blanchet, P., Brureau, L., Kaneva, R., Slavov, C., Mitev, V., Leach, R. J., Weaver, B., Brenner, H., Cuk, K., Holleczek, B., Saum, K. U., Klein, E. A., Hsing, A. W., Kittles, R. A., Murphy, A. B., Logothetis, C. J., Kim, J., Neuhausen, S. L., Steele, L., Ding, Y. C., Isaacs, W. B., Nemesure, B., Hennis, A. J. M., Carpten, J., Pandha, H., Michael, A., De Ruyck, K., De Meerleer, G., Ost, P., Xu, J., Razack, A., Lim, J., Teo, S. H., Newcomb, L. F., Lin, D. W., Fowke, J. H., Neslund-Dudas, C., Rybicki, B. A., Gamulin, M., Lessel, D., Kulis, T., Usmani, N., Singhal, S., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Bush, W. S., Aldrich, M. C., Crawford, D. C., Srivastava, S., Cullen, J. C., Petrovics, G., Casey, G., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Hu, J. J., Sanderson, M., Varma, R., McKean-Cowdin, R., Torres, M., Mancuso, N., Berndt, S. I., Van Den Eeden, S. K., Easton, D. F., Chanock, S. J., Cook, M. B., Wiklund, F., Nakagawa, H., Witte, J. S., Eeles, R. A., Kote-Jarai, Z. & Haiman, C. A., Jan 2021, In: Nature Genetics. 53, 1, p. 65-75 11 p.

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

    Open Access
    203 Scopus citations
  • 2020

    Radiogenomics consortium genome-wide association study meta-analysis of late toxicity after prostate cancer radiotherapy

    Radiogenomics Consortium, 2020, In: Journal of the National Cancer Institute. 112, 2, p. 179-190 12 p.

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

    Open Access
    67 Scopus citations

  • Survey of Radiation Oncologists to Assess Interest and Potential Use of a Genetic Test Predicting Susceptibility for the Development of Toxicities After Prostate Cancer Radiation Therapy

    Collado, K., Kerns, S. L., Diefenbach, M. A., Peterson-Roth, E., Koski, R., Ostrer, H., Stock, R. G., Mattessich, M., Kaplan, P. & Rosenstein, B. S., Sep 1 2020, In: Advances in Radiation Oncology. 5, 5, p. 897-904 8 p.

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

    Open Access
    1 Scopus citations
  • 2019

    Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)

    Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, The Profile Study, Australian Prostate Cancer BioResource (APCB), The IMPACT Study & Canary PASS Investigators, Feb 1 2019, In: Nature Genetics. 51, 2, p. 363 1 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    4 Scopus citations

  • Diaspora, migration, and the sciences: a new integrated perspective

    Rutgers, L., Ostrer, H., Prowse, T. & Schroeder, H., Apr 1 2019, In: European Journal of Human Genetics. 27, 4, p. 509-510 2 p.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access

  • Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions

    Pearlman, A., Rahman, M. T., Upadhyay, K., Loke, J. & Ostrer, H., Feb 2019, In: PloS one. 14, 2, e0211737.

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

    Open Access
    7 Scopus citations

  • Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)

    The PRACTICAL Consortium, Dec 1 2019, In: Nature communications. 10, 1, 382.

    Research output: Contribution to journal › Comment/debate › peer-review

    Open Access
    1 Scopus citations

  • Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

    Chamberlin, A., Huether, R., Machado, A. Z., Groden, M., Liu, H. M., Upadhyay, K., Vivian, O., Gomes, N. L., Lerario, A. M., Nishi, M. Y., Costa, E. M. F., Mendonca, B., Domenice, S., Velasco, J., Loke, J. & Ostrer, H., May 15 2019, In: Human molecular genetics. 28, 10, p. 1620-1628 9 p., ddz002.

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

    19 Scopus citations

  • Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer Risks

    Fofanov, V. Y., Upadhyay, K., Pearlman, A., Loke, J., O, V., Shao, Y., Freedland, S. & Ostrer, H., Jan 2019, In: Journal of Molecular Diagnostics. 21, 1, p. 49-57 9 p.

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

    Open Access
    2 Scopus citations
  • 2018

    Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

    Schumacher, F. R., Al Olama, A. A., Berndt, S. I., Benlloch, S., Ahmed, M., Saunders, E. J., Dadaev, T., Leongamornlert, D., Anokian, E., Cieza-Borrella, C., Goh, C., Brook, M. N., Sheng, X., Fachal, L., Dennis, J., Tyrer, J., Muir, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M., & 167 othersCarter, B. D., Tangen, C. M., Goodman, P. J., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Håkansson, N., West, C. M. L., Dunning, A. M., Burnet, N., Mucci, L. A., Giovannucci, E., Andriole, G. L., Cussenot, O., Cancel-Tassin, G., Koutros, S., Beane Freeman, L. E., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., Fitzgerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H. Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S. H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Singhal, S., Slavov, C., Mitev, V., Parliament, M., Claessens, F., Joniau, S., Van Den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Dominguez, M. G., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., Van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K. T., Cannon-Albright, L., Pandha, H., Michael, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Cui, Z., Kraft, P., Amos, C. I., Conti, D. V., Easton, D. F., Wiklund, F., Chanock, S. J., Henderson, B. E., Kote-Jarai, Z., Haiman, C. A. & Eeles, R. A., Jul 1 2018, In: Nature Genetics. 50, 7, p. 928-936 9 p.

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

    Open Access
    493 Scopus citations

  • Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin

    Upadhyay, K., Loke, J., O, V., Taragin, B. & Ostrer, H., Feb 2018, In: Clinical Genetics. 93, 2, p. 412-416 5 p.

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

    6 Scopus citations

  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Dadaev, T., Saunders, E. J., Newcombe, P. J., Anokian, E., Leongamornlert, D. A., Brook, M. N., Cieza-Borrella, C., Mijuskovic, M., Wakerell, S., Olama, A. A. A., Schumacher, F. R., Berndt, S. I., Benlloch, S., Ahmed, M., Goh, C., Sheng, X., Zhang, Z., Muir, K., Govindasami, K., Lophatananon, A., & 290 othersStevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Hakansson, N., West, C., Dunning, A. M., Burnet, N., Mucci, L., Giovannucci, E., Andriole, G., Cussenot, O., Cancel-Tassin, G., Koutros, S., Freeman, L. E. B., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B., Kerns, S., Ostrer, H., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., Fitzgerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Fachal, L., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H. Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weisher, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S. H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Slavov, C., Mitev, V., Parliament, M., Singhal, S., Claessens, F., Joniau, S., Van Den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., Van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K. T., Cannon-Albright, L., Pandha, H., Michael, A., Kierzek, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Kraft, P., Cook, M., Thwaites, A., Guy, M., Whitmore, I., Morgan, A., Fisher, C., Hazel, S., Livni, N., Spurdle, A., Srinivasan, S., Kedda, M. A., Aitken, J., Gardiner, R., Hayes, V., Butler, L., Taylor, R., Yeadon, T., Eckert, A., Saunders, P., Haynes, A. M., Papargiris, M., Kujala, P., Talala, K., Murtola, T., Taari, K., Dearnaley, D., Barnett, G., Bentzen, S., Elliott, R., Ranu, H., Hicks, B., Vogt, A., Hutchinson, A., Cox, A., Davis, M., Brown, P., George, A., Marsden, G., Lane, A., Lewis, S. J., Berry, C., Kulkarni, G. S., Toi, A., Evans, A., Zlotta, A. R., Van Der Kwast, T. H., Imai, T., Saito, S., Marzec, J., Cao, G., Lin, J., Ling, J., Li, M., Zhao, S. C., Ren, G., Yu, Y., Wu, Y., Wu, J., Zhou, B., Zhang, Y., Li, J., He, W., Guo, J., Pedersen, J., Hopper, J. L., Milne, R., Klim, A., Carballo, A., Lobato-Busto, R., Peleteiro, P., Calvo, P., Aguado, M., Ruiz-Dominguez, J. M., Cecchini, L., Mengual, L., Alcaraz, A., Bustamante, M., Gracia-Lavedan, E., Dierssen-Sotos, T., Gomez-Acebo, I., Pow-Sang, J., Park, H., Zachariah, B., Kluzniak, W., Kolb, S., Klarskov, P., Stegmaier, C., Vogel, W., Herkommer, K., Bohnert, P., Maia, S., Silva, M. P., De Langhe, S., Thierens, H., Tan, M. H., Ong, A. T., Kastelan, Z., Popov, E., Kachakova, D., Mitkova, A., Vlahova, A., Dikov, T., Christova, S., Carracedo, A., Bangma, C., Schroder, F. H., Cenee, S., Tretarre, B., Rebillard, X., Mulot, C., Sanchez, M., Adolfsson, J., Stattin, P., Johansson, J. E., Cavalli-Bjoerkman, C., Karlsson, A., Broms, M., Wu, H., Tillmans, L., Riska, S., Freedman, M., Wiklund, F., Chanock, S., Henderson, B. E., Easton, D. F., Haiman, C. A., Eeles, R. A., Conti, D. V. & Kote-Jarai, Z., Dec 1 2018, In: Nature communications. 9, 1, 2256.

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

    Open Access
    73 Scopus citations

  • Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

    Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N. Y., Chuang, L. S., Carmi, S., Villaverde, N., Li, X., Rivas, M., Levine, A. P., Bao, X., Labrias, P. R., Haritunians, T., Ruane, D., Gettler, K., Chen, E., Li, D., Schiff, E. R., & 31 othersPontikos, N., Barzilai, N., Brant, S. R., Bressman, S., Cheifetz, A. S., Clark, L. N., Daly, M. J., Desnick, R. J., Duerr, R. H., Katz, S., Lencz, T., Myers, R. H., Ostrer, H., Ozelius, L., Payami, H., Peter, Y., Rioux, J. D., Segal, A. W., Scott, W. K., Silverberg, M. S., Vance, J. M., Ubarretxena-Belandia, I., Foroud, T., Atzmon, G., Pe'er, I., Ioannou, Y., McGovern, D. P. B., Yue, Z., Schadt, E. E., Cho, J. H. & Peter, I., Jan 10 2018, In: Science translational medicine. 10, 423, eaai7795.

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

    Open Access
    240 Scopus citations

  • Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Dec 1 2018, In: Nature communications. 9, 1, 4616.

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

    Open Access
    36 Scopus citations

  • High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

    Lencz, T., Yu, J., Palmer, C., Carmi, S., Ben-Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., Cho, J. H., Clark, L. N., Gümüş, Z. H., Joseph, V., Klein, R., Lipkin, S., Offit, K., Ostrer, H., Ozelius, L. J., Peter, I., Atzmon, G. & Pe’er, I., Apr 1 2018, In: Human Genetics. 137, 4, p. 343-355 13 p.

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

    Open Access
    16 Scopus citations

  • Machine Learning on a Genome-wide Association Study to Predict Late Genitourinary Toxicity After Prostate Radiation Therapy

    Lee, S., Kerns, S., Ostrer, H., Rosenstein, B., Deasy, J. O. & Oh, J. H., May 1 2018, In: International Journal of Radiation Oncology Biology Physics. 101, 1, p. 128-135 8 p.

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

    Open Access
    63 Scopus citations

  • Radiation biology and oncology in the genomic era

    Kerns, S. L., Chuang, K. H., Hall, W., Werner, Z., Chen, Y., Ostrer, H., West, C. & Rosenstein, B., 2018, In: British Journal of Radiology. 91, 1091, 20170949.

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

    Open Access
    19 Scopus citations

  • Robust genomic copy number predictor of pan cancer metastasis

    Pearlman, A., Upadhyay, K., Cole, K., Loke, J., Sun, K., Fineberg, S., Freedland, S. J., Shao, Y. & Ostrer, H., Jan 2018, In: Genes and Cancer. 9, 1-2, p. 873-884 12 p.

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

    Open Access
    7 Scopus citations
  • 2017

    Assessing risk for Mendelian disorders in a Bronx population

    diSibio, G., Upadhyay, K., Meyer, P., Oddoux, C. & Ostrer, H., Sep 2017, In: Molecular Genetics and Genomic Medicine. 5, 5, p. 516-523 8 p.

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

    Open Access

  • Computational methods using genome-wide association studies to predict radiotherapy complications and to identify correlative molecular processes

    Oh, J. H., Kerns, S., Ostrer, H., Powell, S. N., Rosenstein, B. & Deasy, J. O., Feb 24 2017, In: Scientific reports. 7, 43381.

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

    Open Access
    35 Scopus citations

  • Differential analysis of mutations in the Jewish population and their implications for diseases

    Einhorn, Y., Weissglas-Volkov, D., Carmi, S., Ostrer, H., Friedman, E. & Shomron, N., May 15 2017, In: Genetics Research. 99, e3.

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

    Open Access
    6 Scopus citations

  • MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

    Granados, A., Alaniz, V. I., Mohnach, L., Barseghyan, H., Vilain, E., Ostrer, H., Quint, E. H., Chen, M. & Keegan, C. E., Jun 2017, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 175, 2, p. 253-259 7 p.

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

    Open Access
    32 Scopus citations

  • Preconditioned random forest regression: Application to genome-wide study for radiotherapy toxicity prediction

    Lee, S., Ostrer, H., Kerns, S., Deasy, J. O., Rosenstein, B. & Oh, J. H., Aug 20 2017, ACM-BCB 2017 - Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics. Association for Computing Machinery, Inc, p. 593 1 p. (ACM-BCB 2017 - Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics).

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

  • Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

    Syeda, M. M., Upadhyay, K., Loke, J., Pearlman, A., Klugman, S., Shao, Y. & Ostrer, H., Sep 1 2017, In: Genetics in Medicine. 19, 9, p. 1071-1077 7 p.

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

    Open Access
    4 Scopus citations
  • 2016

    Expanded genetic screening panel for the Ashkenazi Jewish population

    Baskovich, B., Hiraki, S., Upadhyay, K., Meyer, P., Carmi, S., Barzilai, N., Darvasi, A., Ozelius, L., Peter, I., Cho, J. H., Atzmon, G., Clark, L., Yu, J., Lencz, T., Pe'Er, I., Ostrer, H. & Oddoux, C., May 1 2016, In: Genetics in Medicine. 18, 5, p. 522-528 7 p.

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

    Open Access
    25 Scopus citations

  • How Will Big Data Improve Clinical and Basic Research in Radiation Therapy?

    Rosenstein, B. S., Capala, J., Efstathiou, J. A., Hammerbacher, J., Kerns, S. L., Kong, F. M., Ostrer, H., Prior, F. W., Vikram, B., Wong, J. & Xiao, Y., Jul 1 2016, In: International Journal of Radiation Oncology Biology Physics. 95, 3, p. 895-904 10 p.

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

    Open Access
    22 Scopus citations

  • Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients

    International Radiogenomics Consortium (RgC), Dec 1 2016, In: Radiotherapy and Oncology. 121, 3, p. 431-439 9 p.

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

    Open Access
    88 Scopus citations

  • Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer

    Radiogenomics Consortium, Aug 2016, In: EBioMedicine. 10, p. 150-163 14 p.

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

    Open Access
    64 Scopus citations

  • Response to Zlotogora and Meiner

    Baskovich, B., Hiraki, S., Oddoux, C., Ostrer, H. & Upadhyay, K., May 1 2016, In: Genetics in Medicine. 18, 5, p. 530 1 p.

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

    Open Access

  • The genetic history of Cochin Jews from India

    Waldman, Y. Y., Biddanda, A., Dubrovsky, M., Campbell, C. L., Oddoux, C., Friedman, E., Atzmon, G., Halperin, E., Ostrer, H. & Keinan, A., Oct 1 2016, In: Human Genetics. 135, 10, p. 1127-1143 17 p.

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

    Open Access
    9 Scopus citations

  • The genetics of Bene Israel from India reveals both substantial Jewish and Indian ancestry

    Waldman, Y. Y., Biddanda, A., Davidson, N. R., Billing-Ross, P., Dubrovsky, M., Campbell, C. L., Oddoux, C., Friedman, E., Atzmon, G., Halperin, E., Ostrer, H. & Keinan, A., Mar 2016, In: PloS one. 11, 3, e0152056.

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

    Open Access
    13 Scopus citations

  • The origin of the p.E180 growth hormone receptor gene mutation

    Ostrer, H., Jun 1 2016, In: Growth Hormone and IGF Research. 28, p. 51-52 2 p.

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

    4 Scopus citations
  • 2015

    The Prediction of Radiotherapy Toxicity Using Single Nucleotide Polymorphism-Based Models: A Step Toward Prevention

    Kerns, S. L., Kundu, S., Oh, J. H., Singhal, S. K., Janelsins, M., Travis, L. B., Deasy, J. O., Janssens, A. C. J. E., Ostrer, H., Parliament, M., Usmani, N. & Rosenstein, B. S., Oct 1 2015, In: Seminars in Radiation Oncology. 25, 4, p. 281-291 11 p.

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

    Open Access
    45 Scopus citations
  • 2014

    A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

    Kerns, S. L., Guevara-Aguirre, J., Andrew, S., Geng, J., Guevara, C., Guevara-Aguirre, M., Guo, M., Oddoux, C., Shen, Y., Zurita, A., Rosenfeld, R. G., Ostrer, H., Hwa, V. & Dauber, A., Oct 1 2014, In: Journal of Clinical Endocrinology and Metabolism. 99, 10, p. E2117-E2122

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

    Open Access
    44 Scopus citations

  • Bioinformatics in otolaryngology research. Part one: Concepts in DNA sequencing and gene expression analysis

    Ow, T. J., Upadhyay, K., Belbin, T. J., Prystowsky, M. B., Ostrer, H. & Smith, R. V., Oct 2 2014, In: Journal of Laryngology and Otology. 128, 10, p. 848-858 11 p.

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

    Open Access
    1 Scopus citations

  • Bioinformatics in otolaryngology research. Part two: Other high-throughput platforms in genomics and epigenetics

    Ow, T. J., Upadhyay, K., Belbin, T. J., Prystowsky, M. B., Ostrer, H. & Smith, R. V., Nov 20 2014, In: Journal of Laryngology and Otology. 128, 11, p. 942-947 6 p.

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

    Open Access
    1 Scopus citations

  • Cancer risk assessment using genetic panel testing: Considerations for clinical application

    Hiraki, S., Rinella, E. S., Schnabel, F., Oratz, R. & Ostrer, H., Aug 2014, In: Journal of Genetic Counseling. 23, 4, p. 604-617 14 p.

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

    34 Scopus citations

  • Disorders of sex development (DSDs): An update

    Ostrer, H., May 2014, In: Journal of Clinical Endocrinology and Metabolism. 99, 5, p. 1503-1509 7 p.

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

    Open Access
    83 Scopus citations

  • Founder mutations among the Dutch

    Zeegers, M. P. A., Van Poppel, F., Vlietinck, R., Spruijt, L. & Ostrer, H., Nov 1 2014, Founder Mutations in Inherited Cardiac Diseases in the Netherlands. Bohn Stafleu van Loghum, p. 3-12 10 p.

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

    1 Scopus citations

  • Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway

    Loke, J., Pearlman, A., Upadhyay, K., Tesfa, L., Shao, Y. & Ostrer, H., Dec 15 2014, In: Human molecular genetics. 24, 11, p. 3030-3037 8 p.

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

    Open Access
    8 Scopus citations