Search results

  • 2023

    Clonal haematopoiesis and risk of chronic liver disease

    NHLBI TOPMed Hematology Working Group, Apr 27 2023, In: Nature. 616, 7958, p. 747-754 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    93 Scopus citations
  • Cnih3 Deletion Dysregulates Dorsal Hippocampal Transcription across the Estrous Cycle

    Mulvey, B., Frye, H. E., Lintz, T., Fass, S., Tycksen, E., Nelson, E. C., Morón, J. A. & Dougherty, J. D., Mar 2023, In: eNeuro. 10, 3, ENEURO.0153-22.2023.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Comparing genomic and epigenomic features across species using the WashU Comparative Epigenome Browser

    Zhuo, X., Hsu, S., Purushotham, D., Kuntala, P. K., Harrison, J. K., Du, A. Y., Chen, S., Li, D. & Wang, T., May 2023, In: Genome research. 33, 5, p. 824-835 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Conserved and divergent gene regulatory programs of the mammalian neocortex

    Zemke, N. R., Armand, E. J., Wang, W., Lee, S., Zhou, J., Li, Y. E., Liu, H., Tian, W., Nery, J. R., Castanon, R. G., Bartlett, A., Osteen, J. K., Li, D., Zhuo, X., Xu, V., Chang, L., Dong, K., Indralingam, H. S., Rink, J. A. & Xie, Y. & 13 others, Miller, M., Krienen, F. M., Zhang, Q., Taskin, N., Ting, J., Feng, G., McCarroll, S. A., Callaway, E. M., Wang, T., Lein, E. S., Behrens, M. M., Ecker, J. R. & Ren, B., Dec 14 2023, In: Nature. 624, 7991, p. 390-402 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • Open Access
    2 Scopus citations
  • Correction: Calling Cards: A Customizable Platform to Longitudinally Record Protein-DNA Interactions Over Time in Cells and Tissues (Current Protocols, 10.1002/cpz1.883)

    Yen, A., Mateusiak, C., Sarafinovska, S., Gachechiladze, M. A., Guo, J., Chen, X., Moudgil, A., Cammack, A. J., Hoisington-Lopez, J., Crosby, M. L., Brent, M. R., Mitra, R. D. & Dougherty, J. D., Oct 2023, In: Current Protocols. 3, 10, e928.

    Research output: Contribution to journalComment/debate

    Open Access
  • Correction to: The power of genetic diversity in genome-wide association studies of lipids (Nature, (2021), 600, 7890, (675-679), 10.1038/s41586-021-04064-3)

    Graham, S. E., Clarke, S. L., Wu, K. H. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Hwang, M. Y., Han, S., Narita, A., Choudhury, A., Bentley, A. R., Ekoru, K., Verma, A. & Trivedi, B. & 506 others, Martin, H. C., Hunt, K. A., Hui, Q., Klarin, D., Zhu, X., Thorleifsson, G., Helgadottir, A., Gudbjartsson, D. F., Holm, H., Olafsson, I., Akiyama, M., Sakaue, S., Terao, C., Kanai, M., Zhou, W., Brumpton, B. M., Rasheed, H., Ruotsalainen, S. E., Havulinna, A. S., Veturi, Y., Feng, Q. P., Rosenthal, E. A., Lingren, T., Pacheco, J. A., Pendergrass, S. A., Haessler, J., Giulianini, F., Bradford, Y., Miller, J. E., Campbell, A., Lin, K., Millwood, I. Y., Hindy, G., Rasheed, A., Faul, J. D., Zhao, W., Weir, D. R., Turman, C., Huang, H., Graff, M., Mahajan, A., Brown, M. R., Zhang, W., Yu, K., Schmidt, E. M., Pandit, A., Gustafsson, S., Yin, X., Luan, J., Zhao, J. H., Matsuda, F., Jang, H. M., Yoon, K., Medina-Gomez, C., Pitsillides, A., Hottenga, J. J., Willemsen, G., Wood, A. R., Ji, Y., Gao, Z., Haworth, S., Mitchell, R. E., Chai, J. F., Aadahl, M., Yao, J., Manichaikul, A., Warren, H. R., Ramirez, J., Bork-Jensen, J., Kårhus, L. L., Goel, A., Sabater-Lleal, M., Noordam, R., Sidore, C., Fiorillo, E., McDaid, A. F., Marques-Vidal, P., Wielscher, M., Trompet, S., Sattar, N., Møllehave, L. T., Thuesen, B. H., Munz, M., Zeng, L., Huang, J., Yang, B., Poveda, A., Kurbasic, A., Lamina, C., Forer, L., Scholz, M., Galesloot, T. E., Bradfield, J. P., Daw, E. W., Zmuda, J. M., Mitchell, J. S., Fuchsberger, C., Christensen, H., Brody, J. A., Feitosa, M. F., Wojczynski, M. K., Preuss, M., Mangino, M., Christofidou, P., Verweij, N., Benjamins, J. W., Engmann, J., Kember, R. L., Slieker, R. C., Lo, K. S., Zilhao, N. R., Le, P., Kleber, M. E., Delgado, G. E., Huo, S., Ikeda, D. D., Iha, H., Yang, J., Liu, J., Leonard, H. L., Marten, J., Schmidt, B., Arendt, M., Smyth, L. J., Cañadas-Garre, M., Wang, C., Nakatochi, M., Wong, A., Hutri-Kähönen, N., Sim, X., Xia, R., Huerta-Chagoya, A., Fernandez-Lopez, J. C., Lyssenko, V., Ahmed, M., Jackson, A. U., Yousri, N. A., Irvin, M. R., Oldmeadow, C., Kim, H. N., Ryu, S., Timmers, P. R. H. J., Arbeeva, L., Dorajoo, R., Lange, L. A., Chai, X., Prasad, G., Lorés-Motta, L., Pauper, M., Long, J., Li, X., Theusch, E., Takeuchi, F., Spracklen, C. N., Loukola, A., Bollepalli, S., Warner, S. C., Wang, Y. X., Wei, W. B., Nutile, T., Ruggiero, D., Sung, Y. J., Hung, Y. J., Chen, S., Liu, F., Yang, J., Kentistou, K. A., Gorski, M., Brumat, M., Meidtner, K., Bielak, L. F., Smith, J. A., Hebbar, P., Farmaki, A. E., Hofer, E., Lin, M., Xue, C., Zhang, J., Concas, M. P., Vaccargiu, S., van der Most, P. J., Pitkänen, N., Cade, B. E., Lee, J., van der Laan, S. W., Chitrala, K. N., Weiss, S., Zimmermann, M. E., Lee, J. Y., Choi, H. S., Nethander, M., Freitag-Wolf, S., Southam, L., Rayner, N. W., Wang, C. A., Lin, S. Y., Wang, J. S., Couture, C., Lyytikäinen, L. P., Nikus, K., Cuellar-Partida, G., Vestergaard, H., Hildalgo, B., Giannakopoulou, O., Cai, Q., Obura, M. O., van Setten, J., Li, X., Schwander, K., Terzikhan, N., Shin, J. H., Jackson, R. D., Reiner, A. P., Martin, L. W., Chen, Z., Li, L., Highland, H. M., Young, K. L., Kawaguchi, T., Thiery, J., Bis, J. C., Nadkarni, G. N., Launer, L. J., Li, H., Nalls, M. A., Raitakari, O. T., Ichihara, S., Wild, S. H., Nelson, C. P., Campbell, H., Jäger, S., Nabika, T., Al-Mulla, F., Niinikoski, H., Braund, P. S., Kolcic, I., Kovacs, P., Giardoglou, T., Katsuya, T., Bhatti, K. F., de Kleijn, D., de Borst, G. J., Kim, E. K., Adams, H. H. H., Ikram, M. A., Zhu, X., Asselbergs, F. W., Kraaijeveld, A. O., Beulens, J. W. J., Shu, X. O., Rallidis, L. S., Pedersen, O., Hansen, T., Mitchell, P., Hewitt, A. W., Kähönen, M., Pérusse, L., Bouchard, C., Tönjes, A., Chen, Y. D. I., Pennell, C. E., Mori, T. A., Lieb, W., Franke, A., Ohlsson, C., Mellström, D., Cho, Y. S., Lee, H., Yuan, J. M., Koh, W. P., Rhee, S. Y., Woo, J. T., Heid, I. M., Stark, K. J., Völzke, H., Homuth, G., Evans, M. K., Zonderman, A. B., Polasek, O., Pasterkamp, G., Hoefer, I. E., Redline, S., Pahkala, K., Oldehinkel, A. J., Snieder, H., Biino, G., Schmidt, R., Schmidt, H., Chen, Y. E., Bandinelli, S., Dedoussis, G., Thanaraj, T. A., Kardia, S. L. R., Kato, N., Schulze, M. B., Girotto, G., Jung, B., Böger, C. A., Joshi, P. K., Bennett, D. A., De Jager, P. L., Lu, X., Mamakou, V., Brown, M., Caulfield, M. J., Munroe, P. B., Guo, X., Ciullo, M., Jonas, J. B., Samani, N. J., Kaprio, J., Pajukanta, P., Adair, L. S., Bechayda, S. A., de Silva, H. J., Wickremasinghe, A. R., Krauss, R. M., Wu, J. Y., Zheng, W., den Hollander, A. I., Bharadwaj, D., Correa, A., Wilson, J. G., Lind, L., Heng, C. K., Nelson, A. E., Golightly, Y. M., Wilson, J. F., Penninx, B., Kim, H. L., Attia, J., Scott, R. J., Rao, D. C., Arnett, D. K., Hunt, S. C., Walker, M., Koistinen, H. A., Chandak, G. R., Yajnik, C. S., Mercader, J. M., Tusié-Luna, T., Aguilar-Salinas, C. A., Villalpando, C. G., Orozco, L., Fornage, M., Tai, E. S., van Dam, R. M., Lehtimäki, T., Chaturvedi, N., Yokota, M., Liu, J., Reilly, D. F., McKnight, A. J., Kee, F., Jöckel, K. H., McCarthy, M. I., Palmer, C. N. A., Vitart, V., Hayward, C., Simonsick, E., van Duijn, C. M., Lu, F., Qu, J., Hishigaki, H., Lin, X., März, W., Parra, E. J., Cruz, M., Gudnason, V., Tardif, J. C., Lettre, G., ’t Hart, L. M., Elders, P. J. M., Damrauer, S. M., Kumari, M., Kivimaki, M., van der Harst, P., Spector, T. D., Loos, R. J. F., Province, M. A., Psaty, B. M., Brandslund, I., Pramstaller, P. P., Christensen, K., Ripatti, S., Widén, E., Hakonarson, H., Grant, S. F. A., Kiemeney, L. A. L. M., de Graaf, J., Loeffler, M., Kronenberg, F., Gu, D., Erdmann, J., Schunkert, H., Franks, P. W., Linneberg, A., Jukema, J. W., Khera, A. V., Männikkö, M., Jarvelin, M. R., Kutalik, Z., Cucca, F., Mook-Kanamori, D. O., van Dijk, K. W., Watkins, H., Strachan, D. P., Grarup, N., Sever, P., Poulter, N., Rotter, J. I., Dantoft, T. M., Karpe, F., Neville, M. J., Timpson, N. J., Cheng, C. Y., Wong, T. Y., Khor, C. C., Sabanayagam, C., Peters, A., Gieger, C., Hattersley, A. T., Pedersen, N. L., Magnusson, P. K. E., Boomsma, D. I., de Geus, E. J. C., Cupples, L. A., van Meurs, J. B. J., Ghanbari, M., Gordon-Larsen, P., Huang, W., Kim, Y. J., Tabara, Y., Wareham, N. J., Langenberg, C., Zeggini, E., Kuusisto, J., Laakso, M., Ingelsson, E., Abecasis, G., Chambers, J. C., Kooner, J. S., de Vries, P. S., Morrison, A. C., North, K. E., Daviglus, M., Kraft, P., Martin, N. G., Whitfield, J. B., Abbas, S., Saleheen, D., Walters, R. G., Holmes, M. V., Black, C., Smith, B. H., Justice, A. E., Baras, A., Buring, J. E., Ridker, P. M., Chasman, D. I., Kooperberg, C., Wei, W. Q., Jarvik, G. P., Namjou, B., Hayes, M. G., Ritchie, M. D., Jousilahti, P., Salomaa, V., Hveem, K., Åsvold, B. O., Kubo, M., Kamatani, Y., Okada, Y., Murakami, Y., Thorsteinsdottir, U., Stefansson, K., Ho, Y. L., Lynch, J. A., Rader, D. J., Tsao, P. S., Chang, K. M., Cho, K., O’Donnell, C. J., Gaziano, J. M., Wilson, P., Rotimi, C. N., Hazelhurst, S., Ramsay, M., Trembath, R. C., van Heel, D. A., Tamiya, G., Yamamoto, M., Kim, B. J., Mohlke, K. L., Frayling, T. M., Hirschhorn, J. N., Kathiresan, S., Boehnke, M., Natarajan, P., Peloso, G. M., Brown, C. D., Morris, A. P., Assimes, T. L., Deloukas, P., Sun, Y. V. & Willer, C. J., Jun 15 2023, In: Nature. 618, 7965, p. E19-E20

    Research output: Contribution to journalComment/debate

    Open Access
    4 Scopus citations
  • Defining cardiac functional recovery in end-stage heart failure at single-cell resolution

    Amrute, J. M., Lai, L., Ma, P., Koenig, A. L., Kamimoto, K., Bredemeyer, A., Shankar, T. S., Kuppe, C., Kadyrov, F. F., Schulte, L. J., Stoutenburg, D., Kopecky, B., Navankasattusas, S., Visker, J., Morris, S. A., Kramann, R., Leuschner, F., Mann, D. L., Drakos, S. G. & Lavine, K. J., Apr 2023, In: Nature Cardiovascular Research. 2, 4, p. 399-416 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

    Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A. & Ashley, E. A. & 182 others, 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., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., 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., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., 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., 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., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1377-1393 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

    Yale Center for Genome Analysis, Jan 2023, In: Human genetics. 142, 1, p. 21-32 12 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

    Timberlake, A. T., McGee, S., Allington, G., Kiziltug, E., Wolfe, E. M., Stiegler, A. L., Boggon, T. J., Sanyoura, M., Morrow, M., Wenger, T. L., Fernandes, E. M., Caluseriu, O., Persing, J. A., Jin, S. C., Lifton, R. P., Kahle, K. T. & Kruszka, P., May 4 2023, In: American journal of human genetics. 110, 5, p. 846-862 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Open Access
    4 Scopus citations
  • De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

    Ahmad, N., Fazeli, W., Schließke, S., Lesca, G., Gokce-Samar, Z., Mekbib, K. Y., Jin, S. C., Burton, J., Hoganson, G., Petersen, A., Gracie, S., Granger, L., Bartels, E., Oppermann, H., Kundishora, A., Till, M., Milleret-Pignot, C., Dangerfield, S., Viskochil, D. & Anderson, K. J. & 11 others, Palculict, T. B., Schnur, R. E., Wentzensen, I. M., Tiller, G. E., Kahle, K. T., Kunz, W. S., Burkart, S., Simons, M., Sticht, H., Abou Jamra, R. & Neuser, S., Nov 2023, In: Pediatric Neurology. 148, p. 164-171 8 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
  • Dissecting cell identity via network inference and in silico gene perturbation

    Kamimoto, K., Stringa, B., Hoffmann, C. M., Jindal, K., Solnica-Krezel, L. & Morris, S. A., Feb 23 2023, In: Nature. 614, 7949, p. 742-751 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    185 Scopus citations
  • Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits

    Beard, D. C., Zhang, X., Wu, D. Y., Martin, J. R., Erickson, A., Boua, J. V., Hamagami, N., Swift, R. G., McCullough, K. B., Ge, X., Bell-Hensley, A., Zheng, H., Palmer, C. W., Fuhler, N. A., Lawrence, A. B., Hill, C. A., Papouin, T., Noguchi, K. K., McAlinden, A. & Garbow, J. R. & 3 others, Dougherty, J. D., Maloney, S. E. & Gabel, H. W., Nov 28 2023, In: Cell Reports. 42, 11, 113411.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Distinct roles for canonical and variant histone H3 lysine-36 in Polycomb silencing

    Salzler, H. R., Vandadi, V., McMichael, B. D., Brown, J. C., Boerma, S. A., Leatham-Jensen, M. P., Adams, K. M., Meers, M. P., Simon, J. M., Duronio, R. J., McKay, D. J. & Gregory Matera, A., Mar 3 2023, In: Science Advances. 9, 9, eadf2451.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • Open Access
    3 Scopus citations
  • Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

    Marom, R., Zhang, B., Washington, M. E., Song, I. W., Burrage, L. C., Rossi, V. C., Berrier, A. S., Lindsey, A., Lesinski, J., Nonet, M. L., Chen, J., Baldridge, D., Silverman, G. A., Sutton, V. R., Rosenfeld, J. A., Tran, A. A., Hicks, M. J., Murdock, D. R., Dai, H. & Weis, M. A. & 12 others, Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Caswell, R., Pottinger, C., Cilliers, D., Stals, K., Eyre, D., Krakow, D., Schedl, T., Pak, S. C. & Lee, B. H., Nov 7 2023, In: PLoS genetics. 19, 11 November, e1011005.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes

    Oh, J., Riek, A. E., Bauerle, K. T., Dusso, A., McNerney, K. P., Barve, R. A., Darwech, I., Sprague, J. E., Moynihan, C., Zhang, R. M., Kutz, G., Wang, T., Xing, X., Li, D., Mrad, M., Wigge, N. M., Castelblanco, E., Collin, A., Bambouskova, M. & Head, R. D. & 2 others, Sands, M. S. & Bernal-Mizrachi, C., Dec 2023, In: Nature communications. 14, 1, 3278.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Epigenetic regulation of hybrid epithelial-mesenchymal cell states in cancer

    Sample, R. A., Nogueira, M. F., Mitra, R. D. & Puram, S. V., Jul 14 2023, In: Oncogene. 42, 29, p. 2237-2248 12 p.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    14 Scopus citations
  • Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

    NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium, Recto, K., Kachroo, P., Huan, T., Van Den Berg, D., Lee, G. Y., Bui, H., Lee, D. H., Gereige, J., Yao, C., Hwang, S. J., Joehanes, R., Weiss, S. T., Abe, N., Abecasis, G., Aguet, F., Albert, C., Almasy, L., Alonso, A. & Ament, S. & 181 others, Anderson, P., Anugu, P., Applebaum-Bowden, D., Ardlie, K., Arking, D., Arnett, D. K., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Auer, P., Avramopoulos, D., Ayas, N., Balasubramanian, A., Barnard, J., Barnes, K., Barr, R. G., Barron-Casella, E., Barwick, L., Beaty, T., Beck, G., Becker, D., Becker, L., Beer, R., Beitelshees, A., Benjamin, E., Benos, T., Bezerra, M., Bielak, L., Bis, J., Blackwell, T., Blangero, J., Blue, N., Boerwinkle, E., Bowden, D. W., Bowler, R., Brody, J., Broeckel, U., Broome, J., Brown, D., Bunting, K., Burchard, E., Bustamante, C., Buth, E., Cade, B., Cardwell, J., Carey, V., Carrier, J., Carson, A. P., Carty, C., Casaburi, R., Casas Romero, J. P., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y. C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Ida Chen, Y. D., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Chung, R. H., Clish, C., Comhair, S., Conomos, M., Cornell, E., Correa, A., Crandall, C., Crapo, J., Cupples, L. A., Curran, J., Curtis, J., Custer, B., Damcott, C., Darbar, D., David, S., Davis, C., Daya, M., de Andrade, M., de las Fuentes, L., de Vries, P., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Dugan-Perez, S., Duggirala, R., Durda, J. P., Dutcher, S. K., Eaton, C., Ekunwe, L., El Boueiz, A., Ellinor, P., Emery, L., Erzurum, S., Farber, C., Farek, J., Fingerlin, T., Flickinger, M., Fornage, M., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, S., Gao, Y., Gass, M., Geiger, H., Gelb, B., Geraci, M., Germer, S., Gerszten, R., Ghosh, A., Gibbs, R., Gignoux, C., Gladwin, M., Glahn, D., Gogarten, S., Gong, D. W., Goring, H., Graw, S., Gray, K. J., Grine, D., Gross, C., Gu, C. C., Guan, Y., Guo, X., Gupta, N., Haessler, J., Hall, M., Han, Y., Hanly, P., Harris, D., Hawley, N. L., He, J., Heavner, B., Heckbert, S., Hernandez, R., Herrington, D., Hersh, C., Hidalgo, B., Hixson, J., Hobbs, B., Hokanson, J., Hong, E., Hoth, K., Hsiung, C., Hu, J., Hung, Y. J., Huston, H., Hwu, C. M., Irvin, M. R., Jackson, R., Jain, D., Jaquish, C., Johnsen, J., Johnson, A., Johnson, C., Johnston, R., Jones, K., Kang, H. M., Kaplan, R., Kardia, S., Kelly, S., Kenny, E., Kessler, M., Khan, A., Khan, Z., Kim, W., Rao, D. C. & Sung, Y. J., Sep 2023, In: EBioMedicine. 95, 104758.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

    Shlykov, M. A., Giles, E. M., Kelly, M. P., Lin, S. J., Pham, V. T., Saccone, N. L. & Yanik, E. L., Aug 15 2023, In: Spine. 48, 16, p. 1117-1126 10 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Evaluation of gliovascular functions of AQP4 readthrough isoforms

    Mueller, S. M., McFarland White, K., Fass, S. B., Chen, S., Shi, Z., Ge, X., Engelbach, J. A., Gaines, S. H., Bice, A. R., Vasek, M. J., Garbow, J. R., Culver, J. P., Martinez-Lozada, Z., Cohen-Salmon, M., Dougherty, J. D. & Sapkota, D., 2023, In: Frontiers in Cellular Neuroscience. 17, 1272391.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Exogenous exposures shape genetic predisposition to lipids, Alzheimer’s, and coronary heart disease in the MLXIPL gene locus

    Loika, Y., Loiko, E., Feng, F., Stallard, E., Yashin, A. I., Arbeev, K., Kuipers, A. L., Feitosa, M. F., Province, M. A. & Kulminski, A. M., 2023, In: Aging. 15, 9, p. 3249-3272 24 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Extensive characterization of a Williams syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior

    Nygaard, K. R., Maloney, S. E., Swift, R. G., McCullough, K. B., Wagner, R. E., Fass, S. B., Garbett, K., Mirnics, K., Veenstra-VanderWeele, J. & Dougherty, J. D., Aug 2023, In: Genes, Brain and Behavior. 22, 4, e12853.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

    Qureshi, H. M., Mekbib, K. Y., Allington, G., Elsamadicy, A. A., Duy, P. Q., Kundishora, A. J., Jin, S. C. & Kahle, K. T., Mar 15 2023, In: Cerebral Cortex. 33, 6, p. 3012-3025 14 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Finding motifs using DNA images derived from sparse representations

    Chu, S. K. & Stormo, G. D., Jun 1 2023, In: Bioinformatics. 39, 6, btad378.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Functional trajectories during innate spinal cord repair

    Jensen, N. O., Burris, B., Zhou, L., Yamada, H., Reyes, C., Pincus, Z. & Mokalled, M. H., 2023, In: Frontiers in Molecular Neuroscience. 16, 1155754.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Gaps and complex structurally variant loci in phased genome assemblies

    Human Pangenome Reference Consortium, Apr 2023, In: Genome research. 33, 4, p. 496-510 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    21 Scopus citations
  • Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci

    de las Fuentes, L., Schwander, K. L., Brown, M. R., Bentley, A. R., Winkler, T. W., Sung, Y. J., Munroe, P. B., Miller, C. L., Aschard, H., Aslibekyan, S., Bartz, T. M., Bielak, L. F., Chai, J. F., Cheng, C. Y., Dorajoo, R., Feitosa, M. F., Guo, X., Hartwig, F. P., Horimoto, A. & Kolčić, I. & 178 others, Lim, E., Liu, Y., Manning, A. K., Marten, J., Musani, S. K., Noordam, R., Padmanabhan, S., Rankinen, T., Richard, M. A., Ridker, P. M., Smith, A. V., Vojinovic, D., Zonderman, A. B., Alver, M., Boissel, M., Christensen, K., Freedman, B. I., Gao, C., Giulianini, F., Harris, S. E., He, M., Hsu, F. C., Kühnel, B., Laguzzi, F., Li, X., Lyytikäinen, L. P., Nolte, I. M., Poveda, A., Rauramaa, R., Riaz, M., Robino, A., Sofer, T., Takeuchi, F., Tayo, B. O., van der Most, P. J., Verweij, N., Ware, E. B., Weiss, S., Wen, W., Yanek, L. R., Zhan, Y., Amin, N., Arking, D. E., Ballantyne, C., Boerwinkle, E., Brody, J. A., Broeckel, U., Campbell, A., Canouil, M., Chai, X., Chen, Y. D. I., Chen, X., Chitrala, K. N., Concas, M. P., de Faire, U., de Mutsert, R., de Silva, H. J., de Vries, P. S., Do, A., Faul, J. D., Fisher, V., Floyd, J. S., Forrester, T., Friedlander, Y., Girotto, G., Gu, C. C., Hallmans, G., Heikkinen, S., Heng, C. K., Homuth, G., Hunt, S., Ikram, M. A., Jacobs, D. R., Kavousi, M., Khor, C. C., Kilpeläinen, T. O., Koh, W. P., Komulainen, P., Langefeld, C. D., Liang, J., Liu, K., Liu, J., Lohman, K., Mägi, R., Manichaikul, A. W., McKenzie, C. A., Meitinger, T., Milaneschi, Y., Nauck, M., Nelson, C. P., O’Connell, J. R., Palmer, N. D., Pereira, A. C., Perls, T., Peters, A., Polašek, O., Raitakari, O. T., Rice, K., Rice, T. K., Rich, S. S., Sabanayagam, C., Schreiner, P. J., Shu, X. O., Sidney, S., Sims, M., Smith, J. A., Starr, J. M., Strauch, K., Tai, E. S., Taylor, K. D., Tsai, M. Y., Uitterlinden, A. G., van Heemst, D., Waldenberger, M., Wang, Y. X., Wei, W. B., Wilson, G., Xuan, D., Yao, J., Yu, C., Yuan, J. M., Zhao, W., Becker, D. M., Bonnefond, A., Bowden, D. W., Cooper, R. S., Deary, I. J., Divers, J., Esko, T., Franks, P. W., Froguel, P., Gieger, C., Jonas, J. B., Kato, N., Lakka, T. A., Leander, K., Lehtimäki, T., Magnusson, P. K. E., North, K. E., Ntalla, I., Penninx, B., Samani, N. J., Snieder, H., Spedicati, B., van der Harst, P., Völzke, H., Wagenknecht, L. E., Weir, D. R., Wojczynski, M. K., Wu, T., Zheng, W., Zhu, X., Bouchard, C., Chasman, D. I., Evans, M. K., Fox, E. R., Gudnason, V., Hayward, C., Horta, B. L., Kardia, S. L. R., Krieger, J. E., Mook-Kanamori, D. O., Peyser, P. A., Province, M. M., Psaty, B. M., Rudan, I., Sim, X., Smith, B. H., van Dam, R. M., van Duijn, C. M., Wong, T. Y., Arnett, D. K., Rao, D. C., Gauderman, J., Liu, C. T., Morrison, A. C., Rotter, J. I. & Fornage, M., 2023, In: Frontiers in Genetics. 14, 1235337.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Gene expression: from transcription to alternative splicing

    Dutcher, S. K. & Stormo, G. D., Jan 1 2023, The Chlamydomonas Sourcebook: Volume 1: Introduction to Chlamydomonas and Its Laboratory Use. Elsevier, Vol. 1. p. 117-137 21 p.

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

  • Gene regulatory network reconfiguration in direct lineage reprogramming

    Kamimoto, K., Adil, M. T., Jindal, K., Hoffmann, C. M., Kong, W., Yang, X. & Morris, S. A., Jan 10 2023, In: Stem Cell Reports. 18, 1, p. 97-112 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    18 Scopus citations
  • Open Access
    5 Scopus citations
  • Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease

    Chen, Y., Du, X., Kuppa, A., Feitosa, M. F., Bielak, L. F., O’Connell, J. R., Musani, S. K., Guo, X., Kahali, B., Chen, V. L., Smith, A. V., Ryan, K. A., Eirksdottir, G., Allison, M. A., Bowden, D. W., Budoff, M. J., Carr, J. J., Chen, Y. D. I., Taylor, K. D. & Oliveri, A. & 17 others, Correa, A., Crudup, B. F., Kardia, S. L. R., Mosley, T. H., Norris, J. M., Terry, J. G., Rotter, J. I., Wagenknecht, L. E., Halligan, B. D., Young, K. A., Hokanson, J. E., Washko, G. R., Gudnason, V., Province, M. A., Peyser, P. A., Palmer, N. D. & Speliotes, E. K., Oct 2023, In: Nature Genetics. 55, 10, p. 1640-1650 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    72 Scopus citations
  • Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

    Undiagnosed Diseases Network, Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., Ashley, E. A., Tabor, H. K., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Bacino, C. A., Bademci, G., Balasubramanyam, A. & Baldridge, D. & 181 others, 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., 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., Sessions Cole, F., 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., 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., 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., 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. J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., 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., Rosenwasser, N., Rossignol, F., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Oct 2023, In: Journal of Pediatrics. 261, 113537.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Open Access
  • Open Access
    10 Scopus citations
  • Human genetics and molecular genomics of Chiari malformation type 1

    Mekbib, K. Y., Muñoz, W., Allington, G., McGee, S., Mehta, N. H., Shofi, J. P., Fortes, C., Le, H. T., Nelson-Williams, C., Nanda, P., Dennis, E., Kundishora, A. J., Khanna, A., Smith, H., Ocken, J., Greenberg, A. B. W., Wu, R., Moreno-De-Luca, A., DeSpenza, T. & Zhao, S. & 5 others, Marlier, A., Jin, S. C., Alper, S. L., Butler, W. E. & Kahle, K. T., Dec 2023, In: Trends in Molecular Medicine. 29, 12, p. 1059-1075 17 p.

    Research output: Contribution to journalReview articlepeer-review

    6 Scopus citations
  • Human striatal glia differentially contribute to AD- and PD-specific neurodegeneration

    Xu, J., Farsad, H. L., Hou, Y., Barclay, K., Lopez, B. A., Yamada, S., Saliu, I. O., Shi, Y., Knight, W. C., Bateman, R. J., Benzinger, T. L. S., Yi, J. J., Li, Q., Wang, T., Perlmutter, J. S., Morris, J. C. & Zhao, G., Mar 2023, In: Nature Aging. 3, 3, p. 346-365 20 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    20 Scopus citations
  • IL-15 Priming Alters IFN-g Regulation in Murine NK Cells

    Cimpean, M., Keppel, M. P., Gainullina, A., Fan, C., Sohn, H., Schedler, N. C., Swain, A., Kolicheski, A., Shapiro, H., Young, H. A., Wang, T., Artyomov, M. N. & Cooper, M. A., Nov 15 2023, In: Journal of Immunology. 211, 10, p. 1481-1493 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • Increased mutation and gene conversion within human segmental duplications

    Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Fulton, R. S., Hall, I., Liao, W. W., Regier, A., Tomlinson, C. & Wang, T., May 11 2023, In: Nature. 617, 7960, p. 325-334 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    37 Scopus citations
  • Integrated transcriptomics contrasts fatty acid metabolism with hypoxia response in β-cell subpopulations associated with glycemic control

    Miranda, M. A., Macias-Velasco, J. F., Schmidt, H. & Lawson, H. A., Dec 2023, In: BMC genomics. 24, 1, 156.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Introduction to Volume 3

    Dutcher, S. K., Jan 1 2023, The Chlamydomonas Sourcebook: Volume 3: Cell Motility and Behavior. Elsevier, Vol. 3. p. xv-xv

    Research output: Chapter in Book/Report/Conference proceedingForeword/postscript

    Open Access
  • Landmark contributions of Chlamydomonas to understanding cilia

    Sale, W. S. & Dutcher, S. K., Jan 1 2023, The Chlamydomonas Sourcebook: Volume 3: Cell Motility and Behavior. Elsevier, Vol. 3. p. 1-34 34 p.

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

    2 Scopus citations
  • Open Access
    1 Scopus citations
  • Local translation in microglial processes is required for efficient phagocytosis

    Vasek, M. J., Mueller, S. M., Fass, S. B., Deajon-Jackson, J. D., Liu, Y., Crosby, H. W., Koester, S. K., Yi, J., Li, Q. & Dougherty, J. D., Jul 2023, In: Nature neuroscience. 26, 7, p. 1185-1195 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • Macrocephaly and developmental delay caused by missense variants in RAB5C

    Koop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., Osmond, M., Graham, G., Sawyer, S., Conboy, E., Vetrini, F., Treat, K., Płoski, R., Pienkowski, V. M., Kłosowska, A., Fieg, E., Krier, J., Mallebranche, C., Alban, Z. & Aldinger, K. A. & 28 others, Ritter, D., MacNamara, E., Sullivan, B., Herriges, J., Alaimo, J. T., Helbig, C., Ellis, C. A., Van Eyk, C., Gecz, J., Farrugia, D., Osei-Owusu, I., Adès, L., Van Den Boogaard, M. J., Fuchs, S., Bakker, J., Duran, K., Dawson, Z. D., Lindsey, A., Huang, H., Baldridge, D., Silverman, G. A., Grant, B. D., Raizen, D., Van Haaften, G., Pak, S. C., Rehmann, H., Schedl, T. & Van Hasselt, P., Nov 1 2023, In: Human molecular genetics. 32, 21, p. 3063-3077 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Mecp2 deletion results in profound alterations of developmental and adult functional connectivity

    Rahn, R. M., Yen, A., Chen, S., Gaines, S. H., Bice, A. R., Brier, L. M., Swift, R. G., Lee, L. L., Maloney, S. E., Culver, J. P. & Dougherty, J. D., Jun 15 2023, In: Cerebral Cortex. 33, 12, p. 7436-7453 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations
  • Methamphetamine-induced region-specific transcriptomic and epigenetic changes in the brain of male rats

    Miao, B., Xing, X., Bazylianska, V., Madden, P., Moszczynska, A. & Zhang, B., Dec 2023, In: Communications Biology. 6, 1, 991.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Modbed track: Visualization of modified bases in single-molecule sequencing

    Li, D., Zhuo, X., Harrison, J. K., Liu, S. & Wang, T., Dec 13 2023, In: Cell Genomics. 3, 12, 100455.

    Research output: Contribution to journalArticlepeer-review

    Open Access