Molecular and Medical Genetics

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  • Article

    Complex cytogenetic analysis of early lethality mouse embryos

    Tian, Q., Hanlon Newell, A. E., Wang, Y., Olson, S. B. & Fedorov, L. M., May 2011, In: Chromosome Research. 19, 4, p. 567-574 8 p.

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

    4 Scopus citations

  • Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa

    Dasouki, M., Markova, D., Garola, R., Sasaki, T., Charbonneau, N. L., Sakai, L. Y. & Chu, M. L., Nov 15 2007, In: American Journal of Medical Genetics, Part A. 143, 22, p. 2635-2641 7 p.

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

    104 Scopus citations

  • Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

    The Cancer Genome Atlas Research Network, Aug 13 2018, In: Cancer Cell. 34, 2, p. 211-224.e6

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

    Open Access
    510 Scopus citations

  • Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

    PCAWG Structural Variation Working Group & PCAWG Consortium, Mar 1 2020, In: Nature genetics. 52, 3, p. 331-341 11 p.

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

    Open Access
    347 Scopus citations

  • Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas

    The Cancer Genome Atlas Research Network, Nov 2 2017, In: Cell. 171, 4, p. 950-965.e28

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

    Open Access
    622 Scopus citations

  • Comprehensive Characterization of Cancer Driver Genes and Mutations

    The MC3 Working Group & The Cancer Genome Atlas Research Network, Apr 5 2018, In: Cell. 173, 2, p. 371-385.e18

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

    Open Access
    1212 Scopus citations

  • Comprehensive genomic analysis of patients with disorders of cerebral cortical development

    Wiszniewski, W., Gawlinski, P., Gambin, T., Bekiesinska-Figatowska, M., Obersztyn, E., Antczak-Marach, D., Akdemir, Z. H. C., Harel, T., Karaca, E., Jurek, M., Sobecka, K., Nowakowska, B., Kruk, M., Terczynska, I., Goszczanska-Ciuchta, A., Rudzka-Dybala, M., Jamroz, E., Pyrkosz, A., Jakubiuk-Tomaszuk, A., Iwanowski, P., & 17 othersGieruszczak-Bialek, D., Piotrowicz, M., Sasiadek, M., Kochanowska, I., Gurda, B., Steinborn, B., Dawidziuk, M., Castaneda, J., Wlasienko, P., Bezniakow, N., Jhangiani, S. N., Hoffman-Zacharska, D., Bal, J., Szczepanik, E., Boerwinkle, E., Gibbs, R. A. & Lupski, J. R., Aug 1 2018, In: European Journal of Human Genetics. 26, 8, p. 1121-1131 11 p.

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

    Open Access
    29 Scopus citations

  • Comprehensivemolecular characterization of clear cell renal cell carcinoma

    Creighton, C. J., Morgan, M., Gunaratne, P. H., Wheeler, D. A., Gibbs, R. A., Robertson, G., Chu, A., Beroukhim, R., Cibulskis, K., Signoretti, S., Vandin, F., Wu, H. T., Raphael, B. J., Verhaak, R. G. W., Tamboli, P., Torres-Garcia, W., Akbani, R., Weinstein, J. N., Reuter, V., Hsieh, J. J., & 268 othersBrannon, A. R., Hakimi, A. A., Jacobsen, A., Ciriello, G., Reva, B., Ricketts, C. J., Linehan, W. M., Stuart, J. M., Rathmell, W. K., Hui, S., Laird, P. W., Muzny, D., Davis, C., Liu, X., Chang, K., Kakkar, N., Treviño, L. R., Benton, S., Reid, J. G., Morton, D., Doddapaneni, H., Yi, H., Lewis, L., Huyen, D., Kovar, C., Zhu, Y., Santibanez, J., Min, W., Hale, W., Kalra, D., Getz, G., Lawrence, M. S., Sougnez, C., Carter, S. L., Sivachenko, A., Lee, L., Stewart, C., Voet, D., Fisher, S., Gabriel, S. B., Lander, E., Schumacher, S. E., Tabak, B., Saksena, G., Onofrio, R. C., Cherniack, A. D., Gentry, J., Ardlie, K., Meyerson, M., Chun, H. J. E., Mungall, A. J., Sipahimalani, P., Stoll, D., Ally, A., Balasundaram, M., Butterfield, Y. S. N., Carlsen, R., Carter, C., Chuah, E., Coope, R. J. N., Dhalla, N., Gorski, S., Guin, R., Hirst, C., Hirst, M., Holt, R. A., Lebovitz, C., Lee, D., Li, H. I., Mayo, M., Moore, R. A., Pleasance, E., Plettner, P., Schein, J. E., Shafiei, A., Slobodan, J. R., Tam, A., Thiessen, N., Varhol, R. J., Wye, N., Zhao, Y., Birol, I., Jones, S. J. M., Marra, M. A., Auman, J. T., Tan, D., Jones, C. D., Hoadley, K. A., Mieczkowski, P. A., Mose, L. E., Jefferys, S. R., Topal, M. D., Liquori, C., Turman, Y. J., Yan, S., Waring, S., Buda, E., Walsh, J., Wu, J., Bodenheimer, T., Hoyle, A. P., Simons, J. V., Soloway, M. G., Balu, S., Parker, J. S., Hayes, D. N., Perou, C. M., Kucherlapati, R., Park, P., Triche, T., Weisenberger, D. J., Lai, P. H., Bootwalla, M. S., Maglinte, D. T., Mahurkar, S., Berman, B. P., Van Den Berg, D. J., Cope, L., Baylin, S. B., Noble, M. S., DiCara, D., Zhang, H., Cho, J., Heiman, D. I., Gehlenborg, N., Mallard, W., Pei, L., Frazer, S., Stojanov, P., Liu, Y., Zhou, L., Kim, J., Chin, L., Benz, C., Yau, C., Reynolds, S. M., Shmulevich, I., Vegesna, R., Kim, H., Wei, Z., Cogdell, D., Jonasch, E., Ding, Z., Lu, Y., Zhang, N., Unruh, A. K., Casasent, T. D., Wakefield, C., Tsavachidou, D., Mills, G. B., Gao, J., Cerami, E., Gross, B., Aksoy, B. A., Sinha, R., Weinhold, N., Sumer, S. O., Taylor, B. S., Shen, R., Ostrovnaya, I., Berger, M. F., Ladanyi, M., Sander, C., Fei, S. S., Stout, A., Spellman, P. T., Rubin, D. L., Liu, T. T., Sam, N., Paull, E. O., Carlin, D., Goldstein, T., Waltman, P., Ellrott, K., Jing, Z., Haussler, D., Xiao, W., Shelton, C., Gardner, J., Penny, R., Sherman, M., Mallery, D., Morris, S., Paulauskis, J., Burnett, K., Shelton, T., Kaelin, W. G., Choueiri, T., Atkins, M. B., Curley, E., Tickoo, S., Thorne, L., Boice, L., Mei, H., Fisher, J. C., Vocke, C. D., Peterson, J., Worrell, R., Merino, M. J., Schmidt, L. S., Czerniak, B. A., Aldape, K. D., Wood, C. G., Boyd, J., Weaver, J. E., Iacocca, M. V., Petrelli, N., Witkin, G., Brown, J., Czerwinski, C., Huelsenbeck-Dill, L., Rabeno, B., Myers, J., Morrison, C., Bergsten, J., Eckman, J., Harr, J., Smith, C., Tucker, K., Zach, L. A., Bshara, W., Gaudioso, C., Dhir, R., Maranchie, J., Nelson, J., Parwani, A., Potapova, C. O., Fedosenko, K., Cheville, J. C., Thompson, R. H., Mosquera, J. M., Rubin, M. A., Blute, M. L., Pihl, T., Jensen, M., Sfeir, R., Kahn, A., Chu, A., Kothiyal, P., Snyder, E., Pontius, J., Ayala, B., Backus, M., Walton, J., Baboud, J., Berton, D., Nicholls, M., Srinivasan, D., Raman, R., Girshik, S., Kigonya, P., Alonso, S., Sanbhadti, R., Barletta, S., Pot, D., Sheth, M., Demchok, J. A., Davidsen, T., Wang, Z., Yang, L., Tarnuzzer, R. W., Zhang, J., Eley, G., Ferguson, M. L., Mills Shaw, K. R., Guyer, M. S., Ozenberger, B. A. & Sofia, H. J., 2013, In: Nature. 499, 7456, p. 43-49 7 p.

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

    Open Access
    2524 Scopus citations

  • Comprehensive molecular characterization of human colon and rectal cancer

    Muzny, D. M., Bainbridge, M. N., Chang, K., Dinh, H. H., Drummond, J. A., Fowler, G., Kovar, C. L., Lewis, L. R., Morgan, M. B., Newsham, I. F., Reid, J. G., Santibanez, J., Shinbrot, E., Trevino, L. R., Wu, Y. Q., Wang, M., Gunaratne, P., Donehower, L. A., Creighton, C. J., Wheeler, D. A., & 293 othersGibbs, R. A., Lawrence, M. S., Voet, D., Jing, R., Cibulskis, K., Sivachenko, A., Stojanov, P., McKenna, A., Lander, E. S., Gabriel, S., Ding, L., Fulton, R. S., Koboldt, D. C., Wylie, T., Walker, J., Dooling, D. J., Fulton, L., Delehaunty, K. D., Fronick, C. C., Demeter, R., Mardis, E. R., Wilson, R. K., Chu, A., Chun, H. J. E., Mungall, A. J., Pleasance, E., Gordon Robertson, A., Stoll, D., Balasundaram, M., Birol, I., Butterfield, Y. S. N., Chuah, E., Coope, R. J. N., Dhalla, N., Guin, R., Hirst, C., Hirst, M., Holt, R. A., Lee, D., Li, H. I., Mayo, M., Moore, R. A., Schein, J. E., Slobodan, J. R., Tam, A., Thiessen, N., Varhol, R., Zeng, T., Zhao, Y., Jones, S. J. M., Marra, M. A., Bass, A. J., Ramos, A. H., Saksena, G., Cherniack, A. D., Schumacher, S. E., Tabak, B., Carter, S. L., Pho, N. H., Nguyen, H., Onofrio, R. C., Crenshaw, A., Ardlie, K., Beroukhim, R., Winckler, W., Meyerson, M., Protopopov, A., Hadjipanayis, A., Lee, E., Xi, R., Yang, L., Ren, X., Sathiamoorthy, N., Chen, P. C., Haseley, P., Xiao, Y., Lee, S., Seidman, J., Chin, L., Park, P. J., Kucherlapati, R., Todd Auman, J., Hoadley, K. A., Du, Y., Wilkerson, M. D., Shi, Y., Liquori, C., Meng, S., Li, L., Turman, Y. J., Topal, M. D., Tan, D., Waring, S., Buda, E., Walsh, J., Jones, C. D., Mieczkowski, P. A., Singh, D., Wu, J., Gulabani, A., Dolina, P., Bodenheimer, T., Hoyle, A. P., Simons, J. V., Soloway, M., Mose, L. E., Jefferys, S. R., Balu, S., O'Connor, B. D., Prins, J. F., Chiang, D. Y., Neil Hayes, D., Perou, C. M., Hinoue, T., Weisenberger, D. J., Maglinte, D. T., Pan, F., Berman, B. P., Van Den Berg, D. J., Shen, H., Triche, T., Baylin, S. B., Laird, P. W., Getz, G., Noble, M., Voat, D., Gehlenborg, N., Dicara, D., Zhang, J., Zhang, H., Wu, C. J., Liu, S. Y., Shukla, S., Zhou, L., Lin, P., Park, R. W., Nazaire, M. D., Robinson, J., Thorvaldsdottir, H., Mesirov, J., Thorsson, V., Reynolds, S. M., Bernard, B., Kreisberg, R., Lin, J., Iype, L., Bressler, R., Erkkilä, T., Gundapuneni, M., Liu, Y., Norberg, A., Robinson, T., Yang, D., Zhang, W., Shmulevich, I., De Ronde, J. J., Schultz, N., Cerami, E., Ciriello, G., Goldberg, A. P., Gross, B., Jacobsen, A., Gao, J., Kaczkowski, B., Sinha, R., Arman Aksoy, B., Antipin, Y., Reva, B., Shen, R., Taylor, B. S., Ladanyi, M., Sander, C., Akbani, R., Zhang, N., Broom, B. M., Casasent, T., Unruh, A., Wakefield, C., Hamilton, S. R., Craig Cason, R., Baggerly, K. A., Weinstein, J. N., Haussler, D., Benz, C. C., Stuart, J. M., Benz, S. C., Zachary Sanborn, J., Vaske, C. J., Zhu, J., Szeto, C., Scott, G. K., Yau, C., Ng, S., Goldstein, T., Ellrott, K., Collisson, E., Cozen, A. E., Zerbino, D., Wilks, C., Craft, B., Spellman, P., Penny, R., Shelton, T., Hatfield, M., Morris, S., Yena, P., Shelton, C., Sherman, M., Paulauskis, J., Gastier-Foster, J. M., Bowen, J., Ramirez, N. C., Black, A., Pyatt, R., Wise, L., White, P., Bertagnolli, M., Brown, J., Chan, T. A., Chu, G. C., Czerwinski, C., Denstman, F., Dhir, R., Dörner, A., Fuchs, C. S., Guillem, J. G., Iacocca, M., Juhl, H., Kaufman, A., Iii, B. K., Van Le, X., Mariano, M. C., Medina, E. N., Meyers, M., Nash, G. M., Paty, P. B., Petrelli, N., Rabeno, B., Richards, W. G., Solit, D., Swanson, P., Temple, L., Tepper, J. E., Thorp, R., Vakiani, E., Weiser, M. R., Willis, J. E., Witkin, G., Zeng, Z., Zinner, M. J., Zornig, C., Jensen, M. A., Sfeir, R., Kahn, A. B., Chu, A. L., Kothiyal, P., Wang, Z., Snyder, E. E., Pontius, J., Pihl, T. D., Ayala, B., Backus, M., Walton, J., Whitmore, J., Baboud, J., Berton, D. L., Nicholls, M. C., Srinivasan, D., Raman, R., Girshik, S., Kigonya, P. A., Alonso, S., Sanbhadti, R. N., Barletta, S. P., Greene, J. M., Pot, D. A., Shaw, K. R. M., Dillon, L. A. L., Buetow, K., Davidsen, T., Demchok, J. A., Eley, G., Ferguson, M., Fielding, P., Schaefer, C., Sheth, M., Yang, L., Guyer, M. S., Ozenberger, B. A., Palchik, J. D., Peterson, J., Sofia, H. J. & Thomson., E., Jul 19 2012, In: Nature. 487, 7407, p. 330-337 8 p.

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

    Open Access
    6389 Scopus citations

  • Comprehensive molecular characterization of mitochondrial genomes in human cancers

    PCAWG Consortium, Mar 1 2020, In: Nature genetics. 52, 3, p. 342-352 11 p.

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

    Open Access
    206 Scopus citations

  • Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma

    Linehan, W. M., Spellman, P. T., Ricketts, C. J., Creighton, C. J., Fei, S. S., Davis, C., Wheeler, D. A., Murray, B. A., Schmidt, L., Vocke, C. D., Peto, M., Al Mamun, A. A. M., Shinbrot, E., Sethi, A., Brooks, S., Rathmell, W. K., Brooks, A. N., Hoadley, K. A., Robertson, A. G., Brooks, D., & 208 othersBowlby, R., Sadeghi, S., Shen, H., Weisenberger, D. J., Bootwalla, M., Baylin, S. B., Laird, P. W., Cherniack, A. D., Saksena, G., Haake, S., Li, J., Liang, H., Lu, Y., Mills, G. B., Akbani, R., Leiserson, M. D. M., Raphael, B. J., Anur, P., Bottaro, D., Albiges, L., Barnabas, N., Choueiri, T. K., Czerniak, B., Godwin, A. K., Hakimi, A. A., Ho, T. H., Hsieh, J., Ittmann, M., Kim, W. Y., Krishnan, B., Merino, M. J., Shaw, K. R. M., Reuter, V. E., Reznik, E., Shelley, C. S., Shuch, B., Signoretti, S., Srinivasan, R., Tamboli, P., Thomas, G., Tickoo, S., Burnett, K., Crain, D., Gardner, J., Lau, K., Mallery, D., Morris, S., Paulauskis, J. D., Penny, R. J., Shelton, C., Shelton, W. T., Sherman, M., Thompson, E., Yena, P., Avedon, M. T., Bowen, J., Gastier-Foster, J. M., Gerken, M., Leraas, K. M., Lichtenberg, T. M., Ramirez, N. C., Santos, T., Wise, L., Zmuda, E., Demchok, J. A., Felau, I., Hutter, C. M., Sheth, M., Sofia, H. J., Tarnuzzer, R., Wang, Z., Yang, L., Zenklusen, J. C., Zhang, J., Ayala, B., Baboud, J., Chudamani, S., Liu, J., Lolla, L., Naresh, R., Pihl, T., Sun, Q., Wan, Y., Wu, Y., Ally, A., Balasundaram, M., Balu, S., Beroukhim, R., Bodenheimer, T., Buhay, C., Butterfield, Y. S. N., Carlsen, R., Carter, S. L., Chao, H., Chuah, E., Clarke, A., Covington, K. R., Dahdouli, M., Dewal, N., Dhalla, N., Doddapaneni, H. V., Drummond, J. A., Gabriel, S. B., Gibbs, R. A., Guin, R., Hale, W., Hawes, A., Hayes, D. N., Holt, R. A., Hoyle, A. P., Jefferys, S. R., Jones, S. J. M., Jones, C. D., Kalra, D., Kovar, C., Lewis, L., Li, J., Ma, Y., Marra, M. A., Mayo, M., Meng, S., Meyerson, M., Mieczkowski, P. A., Moore, R. A., Morton, D., Mose, L. E., Mungall, A. J., Muzny, D., Parker, J. S., Perou, C. M., Roach, J., Schein, J. E., Schumacher, S. E., Shi, Y., Simons, J. V., Sipahimalani, P., Skelly, T., Soloway, M. G., Sougnez, C., Tam, A., Tan, D., Thiessen, N., Veluvolu, U., Wang, M., Wilkerson, M. D., Wong, T., Wu, J., Xi, L., Zhou, J., Bedford, J., Chen, F., Fu, Y., Gerstein, M., Haussler, D., Kasaian, K., Lai, P., Ling, S., Radenbaugh, A., Van Den Berg, D., Weinstein, J. N., Zhu, J., Albert, M., Alexopoulou, I., Andersen, J. J., Auman, J. T., Bartlett, J., Bastacky, S., Bergsten, J., Blute, M. L., Boice, L., Bollag, R. J., Boyd, J., Castle, E., Chen, Y. B., Cheville, J. C., Curley, E., Davies, B., DeVolk, A., Dhir, R., Dike, L., Eckman, J., Engel, J., Harr, J., Hrebinko, R., Huang, M., Huelsenbeck-Dill, L., Iacocca, M., Jacobs, B., Lobis, M., Maranchie, J. K., McMeekin, S., Myers, J., Nelson, J., Parfitt, J., Parwani, A., Petrelli, N., Rabeno, B., Roy, S., Salner, A. L., Slaton, J., Stanton, M., Thompson, R. H., Thorne, L., Tucker, K., Weinberger, P. M., Winemiller, C., Zach, L. A. & Zuna, R., Jan 14 2016, In: New England Journal of Medicine. 374, 2, p. 135-145 11 p.

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

    Open Access
    934 Scopus citations

  • Comprehensive Molecular Characterization of the Hippo Signaling Pathway in Cancer

    The Cancer Genome Atlas Research Network, Oct 30 2018, In: Cell Reports. 25, 5, p. 1304-1317.e5

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

    Open Access
    269 Scopus citations

  • Comprehensive molecular portraits of human breast tumours

    Koboldt, D. C., Fulton, R. S., McLellan, M. D., Schmidt, H., Kalicki-Veizer, J., McMichael, J. F., Fulton, L. L., Dooling, D. J., Ding, L., Mardis, E. R., Wilson, R. K., Ally, A., Balasundaram, M., Butterfield, Y. S. N., Carlsen, R., Carter, C., Chu, A., Chuah, E., Chun, H. J. E., Coope, R. J. N., & 323 othersDhalla, N., Guin, R., Hirst, C., Hirst, M., Holt, R. A., Lee, D., Li, H. I., Mayo, M., Moore, R. A., Mungall, A. J., Pleasance, E., Robertson, A. G., Schein, J. E., Shafiei, A., Sipahimalani, P., Slobodan, J. R., Stoll, D., Tam, A., Thiessen, N., Varhol, R. J., Wye, N., Zeng, T., Zhao, Y., Birol, I., Jones, S. J. M., Marra, M. A., Cherniack, A. D., Saksena, G., Onofrio, R. C., Pho, N. H., Carter, S. L., Schumacher, S. E., Tabak, B., Hernandez, B., Gentry, J., Nguyen, H., Crenshaw, A., Ardlie, K., Beroukhim, R., Winckler, W., Getz, G., Gabriel, S. B., Meyerson, M., Chin, L., Kucherlapati, R., Hoadley, K. A., Auman, J. T., Fan, C., Turman, Y. J., Shi, Y., Li, L., Topal, M. D., He, X., Chao, H. H., Prat, A., Silva, G. O., Iglesia, M. D., Zhao, W., Usary, J., Berg, J. S., Adams, M., Booker, J., Wu, J., Gulabani, A., Bodenheimer, T., Hoyle, A. P., Simons, J. V., Soloway, M. G., Mose, L. E., Jefferys, S. R., Balu, S., Parker, J. S., Hayes, D. N., Perou, C. M., Malik, S., Mahurkar, S., Shen, H., Weisenberger, D. J., Triche, T., Lai, P. H., Bootwalla, M. S., Maglinte, D. T., Berman, B. P., Van Den Berg, D. J., Baylin, S. B., Laird, P. W., Creighton, C. J., Donehower, L. A., Noble, M., Voet, D., Gehlenborg, N., Di Cara, D., Zhang, J., Zhang, H., Wu, C. J., Yingchun Liu, S., Lawrence, M. S., Zou, L., Sivachenko, A., Lin, P., Stojanov, P., Jing, R., Cho, J., Sinha, R., Park, R. W., Nazaire, M. D., Robinson, J., Thorvaldsdottir, H., Mesirov, J., Park, P. J., Reynolds, S., Kreisberg, R. B., Bernard, B., Bressler, R., Erkkila, T., Lin, J., Thorsson, V., Zhang, W., Shmulevich, I., Ciriello, G., Weinhold, N., Schultz, N., Gao, J., Cerami, E., Gross, B., Jacobsen, A., Sinha, R., Aksoy, B. A., Antipin, Y., Reva, B., Shen, R., Taylor, B. S., Ladanyi, M., Sander, C., Anur, P., Spellman, P. T., Lu, Y., Liu, W., Verhaak, R. R. G., Mills, G. B., Akbani, R., Zhang, N., Broom, B. M., Casasent, T. D., Wakefield, C., Unruh, A. K., Baggerly, K., Coombes, K., Weinstein, J. N., Haussler, D., Benz, C. C., Stuart, J. M., Benz, S. C., Zhu, J., Szeto, C. C., Scott, G. K., Yau, C., Paull, E. O., Carlin, D., Wong, C., Sokolov, A., Thusberg, J., Mooney, S., Ng, S., Goldstein, T. C., Ellrott, K., Grifford, M., Wilks, C., Ma, S., Craft, B., Yan, C., Hu, Y., Meerzaman, D., Gastier-Foster, J. M., Bowen, J., Ramirez, N. C., Black, A. D., Pyatt, R. E., White, P., Zmuda, E. J., Frick, J., Lichtenberg, T. M., Brookens, R., George, M. M., Gerken, M. A., Harper, H. A., Leraas, K. M., Wise, L. J., Tabler, T. R., McAllister, C., Barr, T., Hart-Kothari, M., Tarvin, K., Saller, C., Sandusky, G., Mitchell, C., Iacocca, M. V., Brown, J., Rabeno, B., Czerwinski, C., Petrelli, N., Dolzhansky, O., Abramov, M., Voronina, O., Potapova, O., Marks, J. R., Suchorska, W. M., Murawa, D., Kycler, W., Ibbs, M., Korski, K., Spychała, A., Murawa, P., Brzeziński, J. J., Perz, H., Łaźniak, R., Teresiak, M., Tatka, H., Leporowska, E., Bogusz-Czerniewicz, M., Malicki, J., Mackiewicz, A., Wiznerowicz, M., Van Le, X., Kohl, B., Viet Tien, N., Thorp, R., Van Bang, N., Sussman, H., Phu, B. D., Hajek, R., Hung, N. P., Phuong, T. V. T., Thang, H. Q., Khan, K. Z., Penny, R., Mallery, D., Curley, E., Shelton, C., Yena, P., Ingle, J. N., Couch, F. J., Lingle, W. L., King, T. A., Gonzalez-Angulo, A. M., Dyer, M. D., Liu, S., Meng, X., Patangan, M., Waldman, F., Stöppler, H., Rathmell, W. K., Thorne, L., Huang, M., Boice, L., Hill, A., Morrison, C., Gaudioso, C., Bshara, W., Daily, K., Egea, S. C., Pegram, M. D., Gomez-Fernandez, C., Dhir, R., Bhargava, R., Brufsky, A., Shriver, C. D., Hooke, J. A., Campbell, J. L., Mural, R. J., Hu, H., Somiari, S., Larson, C., Deyarmin, B., Kvecher, L., Kovatich, A. J., Ellis, M. J., Stricker, T., White, K., Olopade, O., Luo, C., Chen, Y., Bose, R., Chang, L. W., Beck, A. H., Pihl, T., Jensen, M., Sfeir, R., Kahn, A., Chu, A., Kothiyal, P., Wang, Z., Snyder, E., Pontius, J., Ayala, B., Backus, M., Walton, J., Baboud, J., Berton, D., Nicholls, M., Srinivasan, D., Raman, R., Girshik, S., Kigonya, P., Alonso, S., Sanbhadti, R., Barletta, S., Pot, D., Sheth, M., Demchok, J. A., Shaw, K. R. M., Yang, L., Eley, G., Ferguson, M. L., Tarnuzzer, R. W., Zhang, J., Dillon, L. A. L., Buetow, K., Fielding, P., Ozenberger, B. A., Guyer, M. S., Sofia, H. J. & Palchik, J. D., Oct 4 2012, In: Nature. 490, 7418, p. 61-70 10 p.

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

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    8963 Scopus citations

  • Comprehensive molecular profiling of lung adenocarcinoma: The cancer genome atlas research network

    Collisson, E. A., Campbell, J. D., Brooks, A. N., Berger, A. H., Lee, W., Chmielecki, J., Beer, D. G., Cope, L., Creighton, C. J., Danilova, L., Ding, L., Getz, G., Hammerman, P. S., Hayes, D. N., Hernandez, B., Herman, J. G., Heymach, J. V., Jurisica, I., Kucherlapati, R., Kwiatkowski, D., & 290 othersLadanyi, M., Robertson, G., Schultz, N., Shen, R., Sinha, R., Sougnez, C., Tsao, M. S., Travis, W. D., Weinstein, J. N., Wigle, D. A., Wilkerson, M. D., Chu, A., Cherniack, A. D., Hadjipanayis, A., Rosenberg, M., Weisenberger, D. J., Laird, P. W., Radenbaugh, A., Ma, S., Stuart, J. M., Byers, L. A., Baylin, S. B., Govindan, R., Meyerson, M., Gabriel, S. B., Cibulskis, K., Kim, J., Stewart, C., Lichtenstein, L., Lander, E. S., Lawrence, M. S., Getz, E., Fulton, R., Fulton, L. L., McLellan, M. D., Wilson, R. K., Ye, K., Fronick, C. C., Maher, C. A., Miller, C. A., Wendl, M. C., Cabanski, C., Mardis, E., Wheeler, D., Balasundaram, M., Butterfield, Y. S. N., Carlsen, R., Chuah, E., Dhalla, N., Guin, R., Hirst, C., Lee, D., Li, H. I., Mayo, M., Moore, R. A., Mungall, A. J., Schein, J. E., Sipahimalani, P., Tam, A., Varhol, R., Robertson, A. G., Wye, N., Thiessen, N., Holt, R. A., Jones, S. J. M., Marra, M. A., Imielinski, M., Onofrio, R. C., Hodis, E., Zack, T., Helman, E., Pedamallu, C. S., Mesirov, J., Saksena, G., Schumacher, S. E., Carter, S. L., Garraway, L., Beroukhim, R., Lee, S., Mahadeshwar, H. S., Pantazi, A., Protopopov, A., Ren, X., Seth, S., Song, X., Tang, J., Yang, L., Zhang, J., Chen, P. C., Parfenov, M., Xu, A. W., Santoso, N., Chin, L., Park, P. J., Hoadley, K. A., Auman, J. T., Meng, S., Shi, Y., Buda, E., Waring, S., Veluvolu, U., Tan, D., Mieczkowski, P. A., Jones, C. D., Simons, J. V., Soloway, M. G., Bodenheimer, T., Jefferys, S. R., Roach, J., Hoyle, A. P., Wu, J., Balu, S., Singh, D., Prins, J. F., Marron, J. S., Parker, J. S., Perou, C. M., Liu, J., Maglinte, D. T., Lai, P. H., Bootwalla, M. S., Van Den Berg, D. J., Triche, T., Cho, J., DiCara, D., Heiman, D., Lin, P., Mallard, W., Voet, D., Zhang, H., Zou, L., Noble, M. S., Gehlenborg, N., Thorvaldsdottir, H., Nazaire, M. D., Robinson, J., Aksoy, B. A., Ciriello, G., Taylor, B. S., Dresdner, G., Gao, J., Gross, B., Seshan, V. E., Reva, B., Sumer, S. O., Weinhold, N., Sander, C., Ng, S., Zhu, J., Benz, C. C., Yau, C., Haussler, D., Spellman, P. T., Kimes, P. K., Broom, B. M., Wang, J., Lu, Y., Ng, P. K. S., Diao, L., Liu, W., Amos, C. I., Akbani, R., Mills, G. B., Curley, E., Paulauskis, J., Lau, K., Morris, S., Shelton, T., Mallery, D., Gardner, J., Penny, R., Saller, C., Tarvin, K., Richards, W. G., Cerfolio, R., Bryant, A., Raymond, D. P., Pennell, N. A., Farver, C., Czerwinski, C., Huelsenbeck-Dill, L., Iacocca, M., Petrelli, N., Rabeno, B., Brown, J., Bauer, T., Dolzhanskiy, C. O., Potapova, O., Rotin, D., Voronina, O., Nemirovich-Danchenko, E., Fedosenko, K. V., Gal, A., Behera, M., Ramalingam, S. S., Sica, G., Flieder, D., Boyd, J., Weaver, J. E., Kohl, B., Thinh, D. H. Q., Sandusky, G., Juhl, H., Duhig, E., Illei, P., Gabrielson, E., Shin, J., Lee, B., Rogers, K., Trusty, D., Brock, M. V., Williamson, C., Burks, E., Rieger-Christ, K., Holway, A., Sullivan, T., Asiedu, M. K., Kosari, F., Rekhtman, N., Zakowski, M., Rusch, V. W., Zippile, P., Suh, J., Pass, H., Goparaju, C., Owusu-Sarpong, Y., Bartlett, J. M. S., Kodeeswaran, S., Parfitt, J., Sekhon, H., Albert, M., Eckman, J., Myers, J. B., Morrison, C., Gaudioso, C., Borgia, J. A., Bonomi, P., Pool, M., Liptay, M. J., Moiseenko, F., Zaytseva, I., Dienemann, H., Meister, M., Schnabel, P. A., Muley, T. R., Peifer, M., Gomez-Fernandez, C., Herbert, L., Egea, S., Huang, M., Thorne, L. B., Boice, L., Salazar, A. H., Funkhouser, W. K., Rathmell, W. K., Dhir, R., Yousem, S. A., Dacic, S., Schneider, F., Siegfried, J. M., Hajek, R., Watson, M. A., McDonald, S., Meyers, B., Clarke, B., Yang, I. A., Fong, K. M., Hunter, L., Windsor, M., Bowman, R. V., Peters, S., Letovanec, I., Khan, K. Z., Jensen, M. A., Snyder, E. E., Srinivasan, D., Kahn, A. B., Baboud, J., Pot, D. A., Shaw, K. R. M., Sheth, M., Davidsen, T., Demchok, J. A., Yang, L., Wang, Z., Tarnuzzer, R., Zenklusen, J. C., Ozenberger, B. A., Sofia, H. J. & Cheney, R., 2014, In: Nature. 511, 7511, p. 543-550 8 p.

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

    Open Access
    3986 Scopus citations

  • Comprehensive single-cell transcriptional profiling of a multicellular organism

    Cao, J., Packer, J. S., Ramani, V., Cusanovich, D. A., Huynh, C., Daza, R., Qiu, X., Lee, C., Furlan, S. N., Steemers, F. J., Adey, A., Waterston, R. H., Trapnell, C. & Shendure, J., Aug 18 2017, In: Science. 357, 6352, p. 661-667 7 p.

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

    Open Access
    794 Scopus citations

  • Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

    Kalousek, D. K., Howard‐Peebles, P. N., Olson, S. B., Barrett, I. J., Dorfmann, A., Black, S. H., Schulman, J. D. & Wilson, R. D., Oct 1991, In: Prenatal Diagnosis. 11, 10, p. 743-750 8 p.

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

    176 Scopus citations

  • Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with Evidence for multiple independent mutations

    Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M. & Zonana, J., 1998, In: Journal of Investigative Dermatology. 111, 1, p. 83-85 3 p.

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

    Open Access
    21 Scopus citations

  • Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

    Dawidziuk, M., Podwysocka, A., Jurek, M., Obersztyn, E., Bekiesinska-Figatowska, M., Goszczanska-Ciuchta, A., Bukowska-Olech, E., Rygiel, A. M., Guilbride, D. L., Wiszniewski, W. & Gawlinski, P., Sep 2023, In: Journal of Applied Genetics. 64, 3, p. 507-514 8 p.

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

    Open Access

  • Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1

    Chakrapani, A. L., White, C., Korcheva, V., White, K., Lofgren, S., Zonana, J., Moore, S., Krol, A. & Mansoor, A., Aug 2012, In: American Journal of Dermatopathology. 34, 6, p. e77-e80

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

    12 Scopus citations

  • Congenital malignant melanoma: A case report with cytogenetic studies

    Singh, K., Moore, S., Sandoval, M., Balzer, B., Frishberg, D., Lewin, S., Schreck, R. & Raffel, L., Dec 2013, In: American Journal of Dermatopathology. 35, 8, p. e135-e138

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

    12 Scopus citations

  • Consensus characterization of 16 FMR1 reference materials: A consortium study

    Wilson, J. A., Pratt, V. M., Phansalkar, A., Muralidharan, K., Highsmith, W. E., Beck, J. C., Bridgeman, S., Courtney, E. M., Epp, L., Ferreira-Gonzalez, A., Hjelm, N. L., Holtegaard, L. M., Jama, M. A., Jakupciak, J. P., Johnson, M. A., Labrousse, P., Lyon, E., Prior, T. W., Richards, C. S., Richie, K. L., & 16 othersRoa, B. B., Rohlfs, E. M., Sellers, T., Sherman, S. L., Siegrist, K. A., Silverman, L. M., Wiszniewska, J., Kalman, L. V., Bossler, A., Dillon, D., Dolan, M., Gastier-Foster, J., Jones, D., Sepulveda, A., Stellrecht, K. & Wolff, D. A., Jan 2008, In: Journal of Molecular Diagnostics. 10, 1, p. 2-12 11 p.

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

    Open Access
    40 Scopus citations

  • Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

    Hogarth, P., Kurian, M. A., Gregory, A., Csányi, B., Zagustin, T., Kmiec, T., Wood, P., Klucken, A., Scalise, N., Sofia, F., Klopstock, T., Zorzi, G., Nardocci, N. & Hayflick, S. J., Mar 1 2017, In: Molecular Genetics and Metabolism. 120, 3, p. 278-287 10 p.

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

    Open Access
    64 Scopus citations

  • Conservation of functional asymmetry in the mammalian MutLα ATPase

    Johnson, J. R., Erdeniz, N., Nguyen, M., Dudley, S. & Liskay, R. M., Nov 10 2010, In: DNA Repair. 9, 11, p. 1209-1213 5 p.

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

    Open Access
    9 Scopus citations

  • Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome

    Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., Hurst, A. C. E., Descartes, M., Smith, K., Velasco, D., Schmanski, A., Crunk, A., Tokita, M. J., De Lange, I. M., & 28 othersVan Gassen, K., Robinson, H., Guegan, K., Suri, M., Patel, C., Bournez, M., Faivre, L., Tran-Mau-Them, F., Baker, J., Fabie, N., Weaver, K., Shillington, A., Hopkin, R. J., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Bökenkamp, R., Vergano, S., Seco Moro, M. N., Díaz De Bustamante, A., Misra, V. K., Kennelly, K., Rogers, C., Friedman, J., Wigby, K. M., Lenberg, J., Graziano, C., Ahrens-Nicklas, R. C. & Lefebvre, V., Mar 1 2022, In: Journal of medical genetics. 59, 11, p. 1058-1068 11 p.

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

    Open Access
    8 Scopus citations

  • Context Specificity in Causal Signaling Networks Revealed by Phosphoprotein Profiling

    Hill, S. M., Nesser, N. K., Johnson-Camacho, K., Jeffress, M., Johnson, A., Boniface, C., Spencer, S. E. F., Lu, Y., Heiser, L. M., Lawrence, Y., Pande, N. T., Korkola, J. E., Gray, J. W., Mills, G. B., Mukherjee, S. & Spellman, P. T., Jan 25 2017, In: Cell Systems. 4, 1, p. 73-83.e10

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

    Open Access
    25 Scopus citations

  • Contribution of human Mlh1 and Pms2 ATPase activities to DNA mismatch repair

    Tomer, G., Buermeyer, A. B., Nguyen, M. M., Michael Liskay, R. & Or, Jun 14 2002, In: Journal of Biological Chemistry. 277, 24, p. 21801-21809 9 p.

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

    Open Access
    51 Scopus citations

  • Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

    Chen, P. C., Dudley, S., Hagen, W., Dizon, D., Paxton, L., Reichow, D., Yoon, S. R., Yang, K., Arnheim, N., Liskay, R. M. & Lipkin, S. M., Oct 1 2005, In: Cancer Research. 65, 19, p. 8662-8670 9 p.

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

    Open Access
    86 Scopus citations

  • Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

    ACMG Therapeutics Committee, Jun 2023, In: Genetics in Medicine. 25, 6, 100831.

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

    Open Access
    1 Scopus citations

  • Conversion of replicative intermediates in human DNA-repair defective cells

    Hurt, M. M. & Moses, R. E., Apr 1986, In: Experimental Cell Research. 163, 2, p. 396-404 9 p.

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

  • Coordination of Cu(B) in reduced and CO-liganded states of cytochrome bo3 from Escherichia coli. Is chloride ion a cofactor

    Ralle, M., Verkhovskaya, M. L., Morgan, J. E., Verkhovsky, M. I., Wikström, M. & Blackbur, N. J., Jun 1 1999, In: Biochemistry. 38, 22, p. 7185-7194 10 p.

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

    53 Scopus citations

  • Copper, zinc and calcium: Imaging and quantification in anterior pituitary secretory granules

    Bonnemaison, M. L., Duffy, M. E., Mains, R. E., Vogt, S., Eipper, B. A. & Ralle, M., Sep 2016, In: Metallomics. 8, 9, p. 1012-1022 11 p.

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

    Open Access
    9 Scopus citations

  • Copper-dependent amino oxidase 3 governs selection of metabolic fuels in adipocytes

    Yang, H., Ralle, M., Wolfgang, M. J., Dhawan, N., Burkhead, J. L., Rodriguez, S., Kaplan, J. H., Wong, G. W., Haughey, N. & Lutsenko, S., Sep 2018, In: PLoS Biology. 16, 9, e2006519.

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

    Open Access
    48 Scopus citations

  • Copper Modulation and Memory Impairment due to Hippocampal Tau Pathology

    Harris, C. J., Gray, N. E., Caruso, M., Hunter, M., Ralle, M. & Quinn, J. F., 2020, In: Journal of Alzheimer's Disease. 78, 1, p. 49-60 12 p.

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

    4 Scopus citations

  • Copper transfer to the N-terminal domain of the Wilson disease protein (ATP7B): X-ray absorption spectroscopy of reconstituted and chaperone-loaded metal binding domains and their interaction with exogenous ligands

    Ralle, M., Lutsenko, S. & Blackburn, N. J., May 2004, In: Journal of Inorganic Biochemistry. 98, 5, p. 765-774 10 p.

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

    40 Scopus citations

  • Copy number variation analysis in 98 individuals with PHACE syndrome

    Siegel, D. H., Shieh, J. T. C., Kwon, E. K., Baselga, E., Blei, F., Cordisco, M., Dobyns, W. B., Duffy, K. J., Garzon, M. C., Gibbs, D. L., Grimmer, J. F., Hayflick, S. J., Krol, A. L., Kwok, P. Y., Lorier, R., Matter, A., McWeeney, S., Metry, D., Mitchell, S., Pope, E., & 8 othersSantoro, J. L., Stevenson, D. A., Bayrak-Toydemir, P., Wilmot, B., Worthey, E. A., Frieden, I. J., Drolet, B. A. & Broeckel, U., Mar 2013, In: Journal of Investigative Dermatology. 133, 3, p. 677-684 8 p.

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

    Open Access
    24 Scopus citations

  • Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system

    Ding, Z., Harding, C. O., Rebuffat, A., Elzaouk, L., Wolff, J. A. & Thöny, B., Apr 2008, In: Molecular Therapy. 16, 4, p. 673-681 9 p.

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

    Open Access
    51 Scopus citations

  • Correlates of excessive daytime sleepiness in de novo Parkinson's disease: A case control study

    PPMI Sleep Working group on behalf of the PPMI Investigators, Sep 1 2015, In: Movement Disorders. 30, 10, p. 1371-1381 11 p.

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

    Open Access
    74 Scopus citations

  • Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

    Godfrey, M., Menashe, V., Weleber, R. G., Koler, R. D., Bigley, R. H., Lovrien, E., Zonana, J. & Hollister, D. W., Apr 1990, In: American Journal of Human Genetics. 46, 4, p. 652-660 9 p.

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

    79 Scopus citations

  • Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

    Hayflick, S. J., Penzien, J. M., Michl, W., Sharif, U. M., Rosman, N. P. & Wheeler, P. G., 2001, In: Pediatric Neurology. 25, 2, p. 166-169 4 p.

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

    65 Scopus citations

  • Craniofacial conodysplasia

    Beals, R. K., Piatt, J. H. & Zonana, J., 1995, In: Journal of Pediatric Orthopaedics. 15, 5, p. 633-636 4 p.

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

    4 Scopus citations

  • CRELD2: Gene mapping, alternate splicing, and comparative genomic identification of the promoter region

    Maslen, C. L., Babcock, D., Redig, J. K., Kapeli, K., Akkari, Y. M. & Olson, S. B., Nov 1 2006, In: Gene. 382, p. 111-120 10 p.

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

    14 Scopus citations

  • Crossover and noncrossover pathways in mouse meiosis

    Guillon, H., Baudat, F., Grey, C., Liskay, R. M. & De Massy, B., Nov 23 2005, In: Molecular Cell. 20, 4, p. 563-573 11 p.

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

    Open Access
    132 Scopus citations

  • CSF and blood levels of GFAP in Alexander disease

    Jany, P. L., Agosta, G. E., Benko, W. S., Eickhoff, J. C., Keller, S. R., Köehler, W., Koeller, D., Mar, S., Naidu, S., Ness, J. M., Pareyson, D., Renaud, D. L., Salsano, E., Schiffmann, R., Simon, J., Vanderver, A., Eichler, F., van der Knaap, M. S. & Messing, A., 2015, In: eNeuro. 2, 5, e0080-15.2015.

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

    Open Access
    31 Scopus citations

  • Ctr2 regulates biogenesis of a cleaved form of mammalian Ctr1 metal transporter lacking the copper- And cisplatin-binding ecto-domain

    Öhrvik, H., Nose, Y., Wood, L. K., Kim, B. E., Gleber, S. C., Ralle, M. & Thiele, D. J., Nov 12 2013, In: Proceedings of the National Academy of Sciences of the United States of America. 110, 46, p. E4279-E4288

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

    Open Access
    99 Scopus citations

  • Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1

    Hickey, R. D., Mao, S. A., Glorioso, J., Elgilani, F., Amiot, B., Chen, H., Rinaldo, P., Marler, R., Jiang, H., DeGrado, T. R., Suksanpaisan, L., O'Connor, M. K., Freeman, B. L., Ibrahim, S. H., Peng, K. W., Harding, C. O., Ho, C. S., Grompe, M., Ikeda, Y., Lillegard, J. B., & 2 othersRussell, S. J. & Nyberg, S. L., Jul 27 2016, In: Science translational medicine. 8, 349, 349ra99.

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

    Open Access
    51 Scopus citations

  • Current knowledge and research directions in heritable disorders of connective tissue

    Sakai, L. Y., Burgeson, R. E., Olsen, B. R., Rowe, D. W. & Gordon, S. L., Sep 1996, In: Matrix Biology. 15, 4, p. 211-229 19 p.

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

    7 Scopus citations

  • Current perspectives in autism spectrum disorder: From genes to therapy

    Chahrour, M., O’Roak, B. J., Santini, E., Samaco, R. C., Kleiman, R. J. & Manzini, M. C., Nov 9 2016, In: Journal of Neuroscience. 36, 45, p. 11402-11410 9 p.

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

    Open Access
    42 Scopus citations

  • Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis

    Gupta, I. R., Tsai, C. H., Siegel-Bartelt, J., Thorner, P. & Balfe, J. W., Feb 1999, In: Pediatric Nephrology. 13, 2, p. 129-131 3 p.

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

    3 Scopus citations

  • Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge

    Mohebnasab, M., Li, P., Hong, B., Dunlap, J., Traer, E., Fan, G., Press, R. D., Moore, S. R. & Xie, W., Sep 2023, In: International journal of molecular sciences. 24, 17, 13075.

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

    Open Access

  • Cytogenetic aspects of recurrent pregnancy loss

    Olson, S. B. & Magenis, R. E., 1988, In: Seminars in Reproductive Endocrinology. 6, 2, p. 191-202 12 p.

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

    6 Scopus citations