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  • 2024

    Ergosterol promotes aggregation of natamycin in the yeast plasma membrane

    Szomek, M., Akkerman, V., Lauritsen, L., Walther, H. L., Juhl, A. D., Thaysen, K., Egebjerg, J. M., Covey, D. F., Lehmann, M., Wessig, P., Foster, A. J., Poolman, B., Werner, S., Schneider, G., Müller, P. & Wüstner, D., Oct 2024, In: Biochimica et Biophysica Acta - Biomembranes. 1866, 7, 184350.

    Research output: Contribution to journalArticlepeer-review

  • Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

    Undiagnosed Diseases Network, Pucel, J., Briere, L. C., Reuter, C., Gochyyev, P., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D. & Bayrak-Toydemir, P. & 181 others, Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Grajewski, A., Hadley, D., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sacco, R., Sampson, J. B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: Genetics in Medicine. 26, 6, 101115.

    Research output: Contribution to journalArticlepeer-review

  • Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle

    Mead, A. F., Wood, N. B., Nelson, S. R., Palmer, B. M., Yang, L., Previs, S. B., Ploysangngam, A., Kennedy, G. G., McAdow, J. F., Tremble, S. M., Zimmermann, M. A., Cipolla, M. J., Ebert, A. M., Johnson, A. N., Gurnett, C. A., Previs, M. J. & Warshaw, D. M., 2024, In: Journal of General Physiology. 156, 12, e202413604.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Function and Regulation of Bone Marrow Adipose Tissue in Health and Disease: State of the Field and Clinical Considerations

    Zhang, X., Tian, L., Majumdar, A. & Scheller, E. L., Jul 2024, In: Comprehensive Physiology. 14, 3, p. 5521-5579 59 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
  • Global and single-nucleotide resolution detection of 7-methylguanosine in RNA

    D’Ambrosi, S., García-Vílchez, R., Kedra, D., Vitali, P., Macias-Cámara, N., Bárcena, L., Gonzalez-Lopez, M., Aransay, A. M., Dietmann, S., Hurtado, A. & Blanco, S., 2024, In: RNA Biology. 21, 1, p. 1-18 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway

    Hoppe, N., Harrison, S., Hwang, S. H., Chen, Z., Karelina, M., Deshpande, I., Suomivuori, C. M., Palicharla, V. R., Berry, S. P., Tschaikner, P., Regele, D., Covey, D. F., Stefan, E., Marks, D. S., Reiter, J. F., Dror, R. O., Evers, A. S., Mukhopadhyay, S. & Manglik, A., Apr 2024, In: Nature Structural and Molecular Biology. 31, 4, p. 667-677 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Identification of a myofibroblast differentiation program during neonatal lung development

    Yin, Y., Koenitzer, J. R., Patra, D., Dietmann, S., Bayguinov, P., Hagan, A. S. & Ornitz, D. M., May 2024, In: Development (Cambridge). 151, 9, dev202659.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Open Access
  • Infection and chronic disease activate a systemic brain-muscle signaling axis

    Yang, S., Tian, M., Dai, Y., Wang, R., Yamada, S., Feng, S., Wang, Y., Chhangani, D., Ou, T., Li, W., Guo, X., McAdow, J., Rincon-Limas, D. E., Yin, X., Tai, W., Cheng, G. & Johnson, A., 2024, In: Science immunology. 9, 97, eadm7908.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Inhibitory Actions of Potentiating Neuroactive Steroids in the Human a1b3g2L g-Aminobutyric Acid Type A Receptor

    Pierce, S. R., Germann, A. L., Covey, D. F., Evers, A. S., Steinbach, J. H. & Akk, G., Nov 1 2024, In: Molecular pharmacology. 106, 5, p. 264-277 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • iPSC-based modeling of preeclampsia identifies epigenetic defects in extravillous trophoblast differentiation

    Morey, R., Bui, T., Cheung, V. C., Dong, C., Zemke, J. E., Requena, D., Arora, H., Jackson, M. G., Pizzo, D., Theunissen, T. W. & Horii, M., Apr 19 2024, In: iScience. 27, 4, 109569.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Large-Scale Mutational Analysis Identifies UNC93B1 Variants that Drive TLR-Mediated Autoimmunity in Mice and Humans

    Rael, V. E., Yano, J. A., Huizar, J. P., Slayden, L. C., Weiss, M. A., Turcotte, E. A., Terry, J. M., Zuo, W., Thiffault, I., Pastinen, T., Farrow, E. G., Jenkins, J. L., Becker, M. L., Wong, S. C., Stevens, A. M., Otten, C., Allenspach, E. J., Bonner, D. E., Bernstein, J. A. & Wheeler, M. T. & 243 others, Saxton, R. A., Liu, B., Majer, O., Barton, G. M., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., Colley, H. A., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell’angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Leblanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., Macrae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Mikati, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., Papp, J. C., Parker, N. H., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey, B. N., Swerdzewski, Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sampson, J. B., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Solomon, B., Spillmann, R. C., Stergachis, A., Stoler, J. M., Sullivan, K., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tan, Q. K. G., Tan, A. L. M., Tarakad, A., Taylor, H., Tekin, M., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Ungar, R. A., Urv, T. K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Walker, M., Walley, N. M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Hubshman, M. W., Wener, M., Wenger, T., Westerfield, M., Wheeler, M. T., Whitlock, J., Wolfe, L. A., Worley, K., Yamamoto, S., Zhang, Z. & Zuchner, S., Aug 5 2024, In: Journal of Experimental Medicine. 221, 8, e20232005.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegeneration

    Lee, S. W., Oh, Y. M., Victor, M. B., Yang, Y., Chen, S., Strunilin, I., Dahiya, S., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Jan 2024, In: Nature Aging. 4, 1, p. 95-109 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Open Access
  • 3 Scopus citations
  • LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

    Undiagnosed Diseases Network, Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W. P., Leung, Y. Y., Harms, M. B., Vardarajan, B., Heinzen, E. L., Acosta, M. T., Adam, M., Izumi, K., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 181 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell’Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2024, In: BMC genomics. 25, 1, 115.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Lysosome-related organelles contain an expansion compartment that mediates delivery of zinc transporters to promote homeostasis

    Mendoza, A. D., Dietrich, N., Tan, C. H., Herrera, D., Kasiah, J., Payne, Z., Cubillas, C., Schneider, D. L. & Kornfeld, K., Feb 13 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 7, e2307143121.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • Modeling late-onset Alzheimer's disease neuropathology via direct neuronal reprogramming

    Sun, Z., Kwon, J. S., Ren, Y., Chen, S., Walker, C. K., Lu, X., Cates, K., Karahan, H., Sviben, S., Fitzpatrick, J. A. J., Valdez, C., Houlden, H., Karch, C. M., Bateman, R. J., Sato, C., Mennerick, S. J., Diamond, M. I., Kim, J., Tanzi, R. E. & Holtzman, D. M. & 1 others, Yoo, A. S., Aug 2 2024, In: Science (New York, N.Y.). 385, 6708, p. adl2992

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state

    Paryani, F., Kwon, J. S., Ng, C. W., Jakubiak, K., Madden, N., Ofori, K., Tang, A., Lu, H., Xia, S., Li, J., Mahajan, A., Davidson, S. M., Basile, A. O., McHugh, C., Vonsattel, J. P., Hickman, R., Zody, M. C., Housman, D. E., Goldman, J. E. & Yoo, A. S. & 2 others, Menon, V. & Al-Dalahmah, O., Dec 2024, In: Nature communications. 15, 1, 6742.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2)

    Bodmer, N. K., Knutsen, R. H., Roth, R. A., Castile, R. M., Brodt, M. D., Gierasch, C. M., Broekelmann, T., Gibson, M. A., Haspel, J. A., Lake, S. P., Koenitzer, J. R., Brody, S. L., Silva, M. J., Mecham, R. & Ornitz, D. M., Feb 2024, In: Developmental Dynamics. 253, 2, p. 233-254 22 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Neuroactive steroid effects on autophagy in a human embryonic kidney 293 (HEK) cell model

    Salvatore, S. V., Ilagan, M. X. G., Shu, H., Lambert, P. M., Benz, A., Qian, M., Covey, D. F., Zorumski, C. F. & Mennerick, S., Dec 2024, In: Scientific reports. 14, 1, 1042.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Open Access
    4 Scopus citations
  • Nonvirialized axion search sensitive to Doppler effects in the Milky Way halo

    ADMX Collaboration, Apr 15 2024, In: Physical Review D. 109, 8, 083014.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease

    Walker, E. C., Javati, S., Todd, E. M., Matlam, J. P., Lin, X., Bryant, M., Krone, E., Ramani, R., Chandra, P., Green, T. P., Anaya, E. P., Zhou, J. Y., Alexander, K. A., Tong, R. S., Yuasi, L., Boluarte, S., Yang, F., Greenberg, L., Nerbonne, J. M. & Greenberg, M. J. & 10 others, Clemens, R. A., Philips, J. A., Wilson, L. D., Halabi, C. M., DeBosch, B., Blyth, C. C., Druley, T., Kazura, J. W., Pomat, W. S. & Morley, S. C., Dec 2024, In: Nature immunology. 25, 12, p. 2247-2258 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

    Lam, I., Ndayisaba, A., Lewis, A. J., Fu, Y. H., Sagredo, G. T., Kuzkina, A., Zaccagnini, L., Celikag, M., Sandoe, J., Sanz, R. L., Vahdatshoar, A., Martin, T. D., Morshed, N., Ichihashi, T., Tripathi, A., Ramalingam, N., Oettgen-Suazo, C., Bartels, T., Boussouf, M. & Schäbinger, M. & 34 others, Hallacli, E., Jiang, X., Verma, A., Tea, C., Wang, Z., Hakozaki, H., Yu, X., Hyles, K., Park, C., Wang, X., Theunissen, T. W., Wang, H., Jaenisch, R., Lindquist, S., Stevens, B., Stefanova, N., Wenning, G., van de Berg, W. D. J., Luk, K. C., Sanchez-Pernaute, R., Gómez-Esteban, J. C., Felsky, D., Kiyota, Y., Sahni, N., Yi, S. S., Chung, C. Y., Stahlberg, H., Ferrer, I., Schöneberg, J., Elledge, S. J., Dettmer, U., Halliday, G. M., Bartels, T. & Khurana, V., Sep 4 2024, In: Neuron. 112, 17, p. 2886-2909.e16

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

    Undiagnosed Diseases Network, Dohrn, M. F., Bademci, G., Rebelo, A. P., Jeanne, M., Borja, N. A., Beijer, D., Danzi, M. C., Bivona, S. A., Gueguen, P., Zafeer, M. F., Tekin, M., Züchner, S., Acosta, M. T., Adams, D. R., Afzali, B., Allworth, A., Alvarez, R. L., Alvey, J. & Andrews, A. & 181 others, Ashley, E. A., Bacino, C. A., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Borja, N., Botto, L., Briere, L. C., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, S., Colley, H. A., Cope, H., Corner, B., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., D'Souza, P., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Ezell, K., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gonzalez, J. M., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, Y., Huang, A., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Latchman, K., LeBlanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S. C., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Neumann, S., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Peart, L., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Rebelo, A., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Apr 2024, In: Annals of Clinical and Translational Neurology. 11, 4, p. 1075-1079 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

    Undiagnosed Diseases Network, Mar 2024, In: Annals of Clinical and Translational Neurology. 11, 3, p. 629-640 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Review and Evaluate the Bioinformatics Analysis Strategies of ATAC-seq and CUT&Tag Data

    Cheng, S., Miao, B., Li, T., Zhao, G. & Zhang, B., Jun 1 2024, In: Genomics, Proteomics and Bioinformatics. 22, 3, qzae054.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Sarm1 knockout prevents type 1 diabetic bone disease in females independent of neuropathy

    Brazill, J. M., Shen, I. R., Craft, C. S., Magee, K. L., Park, J. S., Lorenz, M., Strickland, A., Wee, N. K., Zhang, X., Beeve, A. T., Meyer, G. A., Milbrandt, J., DiAntonio, A. & Scheller, E. L., 2024, In: JCI Insight. 9, 4, e175159.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Self-renewing human naïve pluripotent stem cells dedifferentiate in 3D culture and form blastoids spontaneously

    Guo, M., Wu, J., Chen, C., Wang, X., Gong, A., Guan, W., Karvas, R. M., Wang, K., Min, M., Wang, Y., Theunissen, T. W., Gao, S. & Silva, J. C. R., Dec 2024, In: Nature communications. 15, 1, 668.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Single-cell analysis of innate spinal cord regeneration identifies intersecting modes of neuronal repair

    Saraswathy, V. M., Zhou, L. & Mokalled, M. H., Dec 2024, In: Nature communications. 15, 1, 6808.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • Single-cell lineage capture across genomic modalities with CellTag-multi reveals fate-specific gene regulatory changes

    Jindal, K., Adil, M. T., Yamaguchi, N., Yang, X., Wang, H. C., Kamimoto, K., Rivera-Gonzalez, G. C. & Morris, S. A., Jun 2024, In: Nature Biotechnology. 42, 6, p. 946-959 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    24 Scopus citations
  • Stem cell dynamics and cellular heterogeneity across lineage subtypes of castrate-resistant prostate cancer

    Beshiri, M. L., Capaldo, B. J., Lake, R., Ku, A. T., Burner, D., Tice, C. M., Tran, C., Kostas, J., Alilin, A. N., Yin, J. J., Agarwal, S., Morris, S. A., Karzai, F. H., Lotan, T. L., Dahut, W. L., Sowalsky, A. G. & Kelly, K., Jun 2024, In: STEM CELLS. 42, 6, p. 526-539 14 p.

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    Open Access
  • Stereospecific Properties and Intracellular Transport of Novel Intrinsically Fluorescent Neurosteroids

    Akkerman, V., Reinholdt, P., Schnoor-Madsen, R., Lauritsen, L., Bader, J., Qian, M., Xu, Y., Akk, G., Scheidt, H. A., Müller, P., Covey, D. F., Evers, A. S., Kongsted, J. & Wüstner, D., Dec 4 2024, In: ACS Chemical Neuroscience. 15, 23, p. 4322-4336 15 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
  • Symptomatic Benign Prostatic Hyperplasia with Suppressed Epigenetic Regulator HOXB13 Shows a Lower Incidence of Prostate Cancer Development

    Barashi, N. S., Li, T., Angappulige, D. H., Zhang, B., O’Gorman, H., Nottingham, C. U., Shetty, A. S., Ippolito, J. E., Andriole, G. L., Mahajan, N. P., Kim, E. H. & Mahajan, K., Jan 2024, In: Cancers. 16, 1, 213.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Synergistic Protection of Retinal Ganglion Cells (RGCs) by SARM1 Inactivation with CNTF in a Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy

    Guo, Y., Mehrabian, Z., Milbrandt, J., DiAntonio, A. & Bernstein, S. L., Feb 2024, In: Cells. 13, 3, 202.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Synthesis and evaluation of photoaffinity labeling reagents for identifying binding sites of sulfated neurosteroids on NMDA and GABAA receptors

    Qian, M., Xu, Y., Shu, H., Chen, Z. W., Wang, L., Zorumski, C., Evers, A. S., Mennerick, S. & Covey, D. F., Nov 13 2024, In: RSC Advances. 14, 49, p. 36352-36369 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • The ACE inhibitor captopril inhibits ACN-1 to control dauer formation and aging

    Egan, B. M., Pohl, F., Anderson, X., Williams, S. C., Adodo, I. G., Hunt, P., Wang, Z., Chiu, C. H., Scharf, A., Mosley, M., Kumar, S., Schneider, D. L., Fujiwara, H., Hsu, F. F. & Kornfeld, K., 2024, In: Development (Cambridge). 151, 3, p. 1-16 16 p.

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    Open Access
    2 Scopus citations
  • The chondrocyte “mechanome”: Activation of the mechanosensitive ion channels TRPV4 and PIEZO1 drives unique transcriptional signatures

    Nims, R., Palmer, D. R., Kassab, J., Zhang, B. & Guilak, F., Jul 15 2024, In: FASEB Journal. 38, 13, e23778.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • The chromatin landscape of healthy and injured cell types in the human kidney

    Gisch, D. L., Brennan, M., Lake, B. B., Basta, J., Keller, M. S., Melo Ferreira, R., Akilesh, S., Ghag, R., Lu, C., Cheng, Y. H., Collins, K. S., Parikh, S. V., Rovin, B. H., Robbins, L., Stout, L., Conklin, K. Y., Diep, D., Zhang, B., Knoten, A. & Barwinska, D. & 332 others, Asghari, M., Sabo, A. R., Ferkowicz, M. J., Sutton, T. A., Kelly, K. J., De Boer, I. H., Rosas, S. E., Kiryluk, K., Hodgin, J. B., Alakwaa, F., Winfree, S., Jefferson, N., Türkmen, A., Gaut, J. P., Gehlenborg, N., Phillips, C. L., El-Achkar, T. M., Dagher, P. C., Hato, T., Zhang, K., Himmelfarb, J., Kretzler, M., Mollah, S., Lake, B., Morales, A., Stillman, I., Lecker, S., Bogen, S., Verma, A., Yu, G., Schmidt, I., Henderson, J., Beck, L., Yadati, P., Waikar, S., Amodu, A. A., Maikhor, S., Ilori, T., Colona, M. R., Weins, A., McMahon, G., Hacohen, N., Greka, A., Marshall, J. L., Hoover, P. J., Viswanathan, V. S., Crawford, D., Aulisio, M., Bush, W., Chen, Y., Madabhushi, A., O’Malley, C., Gadegbeku, C., Sendrey, D., Poggio, E., O’Toole, J., Sedor, J., Taliercio, J., Bush, L., Herlitz, L., Palmer, E., Nguyen, J., Spates-Harden, K., Cooperman, L., Jolly, S., Vinovskis, C., Bomback, A., Barasch, J., Kiryluk, K., Appelbaum, P., D’Agati, V., Berrouet, C., Mehl, K., Sabatello, M., Shang, N., Balderes, O., Canetta, P. A., Kudose, S., de Pinho Gonçalves, J., Migas, L., Van de Plas, R., Lardenoije, R., Barisoni, L., Rennke, H., Verdoes, A., Sabo, A., Gisch, D. L., Williams, J., Kelly, K., Dunn, K., Eadon, M., Ferkowicz, M., Dagher, P., Winfree, S., Bledsoe, S., Wofford, S., (El-Achkar), T. A., Sutton, T., Bowen, W., Slade, A., Record, E., Cheng, Y., Jain, Y., Herr, B., Quardokus, E., Wang, A., Villalobos, C. P. C., Parikh, C., Atta, M., Menez, S., Wen, Y., Xu, A., Bernard, L., Johansen, C., Chen, S., Rosas, S., Donohoe, I., Sun, J., Knight, R., Shpigel, A., Bebiak, J., Saul, J., Ardayfio, J., Koewler, R., Pinkeney, R., Campbell, T., Azeloglu, E., Nadkarni, G., He, J., Tokita, J., Campbell, K., Patel, M., Lefferts, S., Iyengar, S. R., Ward, S., Coca, S., He, C., Xiong, Y., Prasad, P., Rovin, B., Shapiro, J. P., Parikh, S., Madhavan, S. M., Lukowski, J., Velickovic, D., Pasa-Tolic, L., Oliver, G., Troyanskaya, O., Sealfon, R., Mao, W., Wong, A., Pollack, A., Goltsev, Y., Ginley, B., Lutnick, B., Nolan, G., Anjani, K., Mukatash, T., Laszik, Z. G., Campos, B., Thajudeen, B., Beyda, D., Bracamonte, E., Brosius, F., Woodhead, G., Mendoza, K., Marquez, N., Scott, R., Tsosie, R., Saunders, M., Rike, A., Woodle, E. S., Lee, P. J., Alloway, R. R., Shi, T., Hsieh, E., Kendrick, J., Thurman, J., Wrobel, J., Pyle, L., Bjornstad, P., Lucarelli, N., Sarder, P., Renteria, A., Ricardo, A., Srivastava, A., Redmond, D., Carmona-Powell, E., Bui, J., Lash, J., Fox, M., Meza, N., Gaba, R., Setty, S., Kelly, T., Lienczewski, C., Demeke, D., Otto, E., Ascani, H., Hodgin, J., Schaub, J., Hartman, J., Mariani, L., Bitzer, M., Rose, M., Bonevich, N., Conser, N., McCown, P., Dull, R., Menon, R., Reamy, R., Eddy, S., Balis, U., Blanc, V., Nair, V., He, Y. O., Wright, Z., Steck, B., Luo, J., Frey, R., Coleman, A., Henderson-Brown, D., Berge, J., Caramori, M. L., Adeyi, O., Nachman, P., Safadi, S., Flanagan, S., Ma, S., Klett, S., Wolf, S., Harindhanavudhi, T., Rao, V., Mottl, A., Froment, A., Zeitler, E., Bream, P., Kelley, S., Rosengart, M., Elder, M., Palevsky, P., Murugan, R., Hall, D. E., Bender, F., Winters, J., Kellum, J. A., Gilliam, M., Tublin, M., Tan, R., Zhang, G., Sharma, K., Venkatachalam, M., Hendricks, A., Kermani, A., Torrealba, J., Vazquez, M., Wang, N., Cai, Q., Miller, R. T., Ma, S., Hedayati, S., Hoofnagle, A., Wangperawong, A., Berglund, A., Dighe, A. L., Young, B., Larson, B., Berry, B., Alpers, C., Limonte, C., Stutzke, C., Roberts, G., de Boer, I., Snyder, J., Phuong, J., Carson, J., Rezaei, K., Tuttle, K., Brown, K., Blank, K., Sarkisova, N., Jefferson, N., McClelland, R., Mooney, S., Nam, Y., Wilcox, A., Park, C., Dowd, F., Williams, K., Grewenow, S. M., Daniel, S., Shankland, S., Pamreddy, A., Ye, H., Montellano, R., Bansal, S., Pillai, A., Zhang, D., Park, H., Patel, J., Sambandam, K., Basit, M., Wen, N., Moe, O. W., Toto, R. D., Lee, S. C., Sharman, K., Caprioli, R. M., Fogo, A., Allen, J., Spraggins, J., Djambazova, K., de Caestecker, M., Dufresne, M., Farrow, M., Vijayan, A., Minor, B., Nwanne, G., Gaut, J., Conlon, K., Kaushal, M., Diettman, S. M., Victoria Castro, A. M., Moledina, D., Wilson, F. P., Moeckel, G., Cantley, L., Shaw, M., Kakade, V., Arora, T., Jain, S. & Rauchman, M., Dec 2024, In: Nature communications. 15, 1, 433.

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    14 Scopus citations
  • The response of Dual-leucine zipper kinase (DLK) to nocodazole: Evidence for a homeostatic cytoskeletal repair mechanism

    DeVault, L., Mateusiak, C., Palucki, J., Brent, M., Milbrandt, J. & DiAntonio, A., Apr 2024, In: PloS one. 19, 4 April, e0300539.

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    4 Scopus citations
  • Ultra-Efficient Edge Cardiac Disease Detection Towards Real-Time Precision Health

    Wong, J., Nerbonne, J. & Zhang, Q., 2024, In: IEEE Access. 12, p. 9940-9951 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Vascular restoration through local delivery of angiogenic factors stimulates bone regeneration in critical size defects

    Fang, L., Liu, Z., Wang, C., Shi, M., He, Y., Lu, A., Li, X., Li, T., Zhu, D., Zhang, B., Guan, J. & Shen, J., Jun 2024, In: Bioactive Materials. 36, p. 580-594 15 p.

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    5 Scopus citations
  • VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1

    Ugur, B., Schueder, F., Shin, J., Hanna, M. G., Wu, Y., Leonzino, M., Su, M., McAdow, A. R., Wilson, C., Postlethwait, J., Solnica-Krezel, L., Bewersdorf, J. & De Camilli, P., Dec 2 2024, In: The Journal of cell biology. 223, 12

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    2 Scopus citations
  • 2023

    3D-cultured blastoids model human embryogenesis from pre-implantation to early gastrulation stages

    Karvas, R. M., Zemke, J. E., Ali, S. S., Upton, E., Sane, E., Fischer, L. A., Dong, C., Park, K. M., Wang, F., Park, K., Hao, S., Chew, B., Meyer, B., Zhou, C., Dietmann, S. & Theunissen, T. W., Sep 7 2023, In: Cell Stem Cell. 30, 9, p. 1148-1165.e7

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    Open Access
    44 Scopus citations
  • Open Access
    1 Scopus citations
  • Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)

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  • An atlas of healthy and injured cell states and niches in the human kidney

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