Department of Genetics

Search results

  • 2024

    Parvalbumin expression does not account for discrete electrophysiological profiles of glutamatergic ventral pallidal subpopulations

    Graham, R. D., Fang, L. Z., Tooley, J. R., Kalyanaraman, V., Stander, M. C., Sapkota, D., Lynch, M. R., Dougherty, J., Copits, B. A. & Creed, M., Sep 2024, In: Addiction Neuroscience. 12, 100170.

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

    Open Access

  • PathFinder: a novel graph transformer model to infer multi-cell intra- and inter-cellular signaling pathways and communications

    Feng, J., Song, H., Province, M., Li, G., Payne, P. R. O., Chen, Y. & Li, F., 2024, In: Frontiers in Cellular Neuroscience. 18, 1369242.

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

    Open Access
    2 Scopus citations

  • Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

    DeSpenza, T., Singh, A., Allington, G., Zhao, S., Lee, J., Kiziltug, E., Prina, M. L., Desmet, N., Dang, H. Q., Fields, J., Nelson-Williams, C., Zhang, J., Mekbib, K. Y., Dennis, E., Mehta, N. H., Duy, P. Q., Shimelis, H., Walsh, L. K., Marlier, A. & Deniz, E. & 12 others, Lake, E. M. R., Constable, R. T., Hoffman, E. J., Lifton, R. P., Gulledge, A., Fiering, S., Moreno-De-Luca, A., Haider, S., Alper, S. L., Jin, S. C., Kahle, K. T. & Luikart, B. W., Jul 1 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 27

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

    Open Access
    3 Scopus citations

  • Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

    Shepherdson, J. L., Friedman, R. Z., Zheng, Y., Sun, C., Oh, I. Y., Granas, D. M., Cohen, B. A., Chen, S. & White, M. A., Feb 2024, In: Genome research. 34, 2, p. 243-255 13 p.

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

    Open Access
    7 Scopus citations

  • Potential causal association between gut microbiome and posttraumatic stress disorder

    He, Q., Wang, W., Xu, D., Xiong, Y., Tao, C., You, C., Ma, L., Ma, J., Nievergelt, C. M., Maihofer, A. X., Klengel, T., Atkinson, E. G., Chen, C. Y., Choi, K. W., Coleman, J. R. I., Dalvie, S., Duncan, L. E., Logue, M. W., Provost, A. C. & Ratanatharathorn, A. & 165 others, Stein, M. B., Torres, K., Aiello, A. E., Almli, L. M., Amstadter, A. B., Andersen, S. B., Andreassen, O. A., Arbisi, P. A., Ashley-Koch, A. E., Austin, S. B., Avdibegovic, E., Babić, D., Bækvad-Hansen, M., Baker, D. G., Beckham, J. C., Bierut, L. J., Bisson, J. I., Boks, M. P., Bolger, E. A., Børglum, A. D., Bradley, B., Brashear, M., Breen, G., Bryant, R. A., Bustamante, A. C., Bybjerg-Grauholm, J., Calabrese, J. R., Caldas-de-Almeida, J. M., Dale, A. M., Daly, M. J., Daskalakis, N. P., Deckert, J., Delahanty, D. L., Dennis, M. F., Disner, S. G., Domschke, K., Dzubur-Kulenovic, A., Erbes, C. R., Evans, A., Farrer, L. A., Feeny, N. C., Flory, J. D., Forbes, D., Franz, C. E., Galea, S., Garrett, M. E., Gelaye, B., Gelernter, J., Geuze, E., Gillespie, C., Uka, A. G., Gordon, S. D., Guffanti, G., Hammamieh, R., Harnal, S., Hauser, M. A., Heath, A. C., Hemmings, S. M. J., Hougaard, D. M., Jakovljevic, M., Jett, M., Johnson, E. O., Jones, I., Jovanovic, T., Qin, X. J., Junglen, A. G., Karstoft, K. I., Kaufman, M. L., Kessler, R. C., Khan, A., Kimbrel, N. A., King, A. P., Koen, N., Kranzler, H. R., Kremen, W. S., Lawford, B. R., Lebois, L. A. M., Lewis, C. E., Linnstaedt, S. D., Lori, A., Lugonja, B., Luykx, J. J., Lyons, M. J., Maples-Keller, J., Marmar, C., Martin, A. R., Martin, N. G., Maurer, D., Mavissakalian, M. R., McFarlane, A., McGlinchey, R. E., McLaughlin, K. A., McLean, S. A., McLeay, S., Mehta, D., Milberg, W. P., Miller, M. W., Morey, R. A., Morris, C. P., Mors, O., Mortensen, P. B., Neale, B. M., Nelson, E. C., Nordentoft, M., Norman, S. B., O’Donnell, M., Orcutt, H. K., Panizzon, M. S., Peters, E. S., Peterson, A. L., Peverill, M., Pietrzak, R. H., Polusny, M. A., Rice, J. P., Ripke, S., Risbrough, V. B., Roberts, A. L., Rothbaum, A. O., Rothbaum, B. O., Roy-Byrne, P., Ruggiero, K., Rung, A., Rutten, B. P. F., Saccone, N. L., Sanchez, S. E., Schijven, D., Seedat, S., Seligowski, A. V., Seng, J. S., Sheerin, C. M., Silove, D., Smith, A. K., Smoller, J. W., Solovieff, N., Sponheim, S. R., Stein, D. J., Sumner, J. A., Teicher, M. H., Thompson, W. K., Trapido, E., Uddin, M., Ursano, R. J., van den Heuvel, L. L., van Hooff, M., Vermetten, E., Vinkers, C. H., Voisey, J., Wang, Y., Wang, Z., Werge, T., Williams, M. A., Williamson, D. E., Winternitz, S., Wolf, C., Wolf, E. J., Wolff, J. D., Yehuda, R., Young, K. A., Young, R. M. D., Zhao, H., Zoellner, L. A., Liberzon, I., Ressler, K. J., Haas, M. & Koenen, K. C., Dec 2024, In: Translational psychiatry. 14, 1, 67.

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

    10 Scopus citations

  • Potential clinical applications of advanced genomic analysis in cerebral palsy

    Lewis, S. A., Ruttenberg, A., Iyiyol, T., Kong, N., Jin, S. C. & Kruer, M. C., Aug 2024, In: EBioMedicine. 106, 105229.

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

    Open Access
    1 Scopus citations

  • Pycallingcards: an integrated environment for visualizing, analyzing, and interpreting Calling Cards data

    Guo, J., Zhang, W., Chen, X., Yen, A., Chen, L., Shively, C. A., Li, D., Wang, T., Dougherty, J. D. & Mitra, R. D., Feb 1 2024, In: Bioinformatics. 40, 2, btae070.

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

    Open Access

  • Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

    Undiagnosed Diseases Network, Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, e63798.

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

  • 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 journal › Article › peer-review

  • 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 journal › Article › peer-review

    2 Scopus citations

  • Regulatory transposable elements in the encyclopedia of DNA elements

    Du, A. Y., Chobirko, J. D., Zhuo, X., Feschotte, C. & Wang, T., Dec 2024, In: Nature communications. 15, 1, 7594.

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

    Open Access
    4 Scopus citations

  • Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease

    Fass, S. B., Mulvey, B., Chase, R., Yang, W., Selmanovic, D., Chaturvedi, S. M., Tycksen, E., Weiss, L. A. & Dougherty, J. D., Dec 2024, In: Biology of Sex Differences. 15, 1, 47.

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

    Open Access
    5 Scopus citations

  • Reply to Pisan et al. Pathogenicity of inherited TRAF7 mutations in congenital heart disease

    Mishra-Gorur, K., Barak, T., Kaulen, L. D., Henegariu, O., Jin, S. C., Aguilera, S. M., Yalbir, E., Goles, G., Nishimura, S., Miyagishima, D., Djenoune, L., Altinok, S., Rai, D. K., Viviano, S., Prendergast, A., Zerillo, C., Ozcan, K., Baran, B., Sencar, L. & Goc, N. & 10 others, Yarman, Y., Ercan-Encicek, A. G., Bilguvar, K., Lifton, R. P., Moliterno, J., Louvi, A., Yuan, S., Deniz, E., Brueckner, M. & Gunel, M., Mar 19 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 12, e2319578121.

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

    Open Access

  • RETHINKING THE POWER OF GRAPH CANONIZATION IN GRAPH REPRESENTATION LEARNING WITH STABILITY

    Dong, Z., Zhang, M., Payne, P. R. O., Province, M. A., Cruchaga, C., Zhao, T., Li, F. & Chen, Y., 2024.

    Research output: Contribution to conference › Paper › peer-review

    1 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 journal › Article › peer-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 journal › Article › peer-review

    Open Access
    3 Scopus citations

  • sc2MeNetDrug: A computational tool to uncover inter-cell signaling targets and identify relevant drugs based on single cell RNA-seq data

    Feng, J., Goedegebuure, S. P., Zeng, A., Bi, Y., Wang, T., Payne, P., Ding, L., DeNardo, D., Hawkins, W., Fields, R. C. & Li, F., Jan 2024, In: PLoS computational biology. 20, 1, e1011785.

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

    Open Access
    2 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 journal › Article › peer-review

    25 Scopus citations

  • SMIM1 absence is associated with reduced energy expenditure and excess weight

    Stefanucci, L., Moslemi, C., Tomé, A. R., Virtue, S., Bidault, G., Gleadall, N. S., Watson, L. P. E., Kwa, J. E., Burden, F., Farrow, S., Banasik, K., Bay, J., Boldsen, J. K., Brodersen, T., Brunak, S., Burgdorf, K., Chalmer, M. A., Didriksen, M., Dinh, K. M. & Dowsett, J. & 475 others, Erikstrup, C., Feenstra, B., Geller, F., Gudbjartsson, D., Hansen, T. F., Hindhede, L., Hjalgrim, H., Jacobsen, R. L., Jemec, G., Jensen, B. A., Kaspersen, K., Kjerulff, B. D., Kogelman, L., Hørup Larsen, M. A., Louloudis, I., Lundgaard, A., Susan, Mikkelsen, C., Nissen, I., Nyegaard, M., Ostrowski, S. R., Pedersen, O. B., Henriksen, A. P., Rohde, P. D., Rostgaard, K., Schwinn, M., Stefansson, K., Stefánsson, H., Sørensen, E., þorsteinsdóttir, U., Thørner, L. W., Bruun, M. T., Ullum, H., Werge, T., Westergaard, D., Chen, J., Spracklen, C. N., Marenne, G., Varshney, A., Corbin, L. J., Luan, J., Willems, S. M., Wu, Y., Zhang, X., Horikoshi, M., Boutin, T. S., Mägi, R., Waage, J., Li-Gao, R., Katie Chan, K. H., Yao, J., Anasanti, M. D., Chu, A. Y., Claringbould, A., Heikkinen, J., Hong, J., Hottenga, J. J., Huo, S., Kaakinen, M. A., Louie, T., März, W., Moreno-Macias, H., Ndungu, A., Nelson, S. C., Nolte, I. M., North, K. E., Raulerson, C. K., Ray, D., Rohde, R., Rybin, D., Schurmann, C., Sim, X., Southam, L., Stewart, I. D., Wang, C. A., Wang, Y., Wu, P., Zhang, W., Ahluwalia, T. S., Appel, E. V. R., Bielak, L. F., Brody, J. A., Burtt, N. P., Cabrera, C. P., Cade, B. E., Chai, J. F., Chai, X., Chang, L. C., Chen, C. H., Chen, B. H., Chitrala, K. N., Chiu, Y. F., de Haan, H. G., Delgado, G. E., Demirkan, A., Duan, Q., Engmann, J., Fatumo, S. A., Gayán, J., Giulianini, F., Gong, J. H., Gustafsson, S., Hai, Y., Hartwig, F. P., He, J., Heianza, Y., Huang, T., Huerta-Chagoya, A., Hwang, M. Y., Jensen, R. A., Kawaguchi, T., Kentistou, K. A., Kim, Y. J., Kleber, M. E., Kooner, I. K., Lai, S., Lange, L. A., Langefeld, C. D., Lauzon, M., Li, M., Ligthart, S., Liu, J., Loh, M., Long, J., Lyssenko, V., Mangino, M., Marzi, C., Montasser, M. E., Nag, A., Nakatochi, M., Noce, D., Noordam, R., Pistis, G., Preuss, M., Raffield, L., Rasmussen-Torvik, L. J., Rich, S. S., Robertson, N. R., Rueedi, R., Ryan, K., Sanna, S., Saxena, R., Schraut, K. E., Sennblad, B., Setoh, K., Smith, A. V., Southam, L., Sparsø, T., Strawbridge, R. J., Takeuchi, F., Tan, J., Trompet, S., van den Akker, E., van der Most, P. J., Verweij, N., Vogel, M., Wang, H., Wang, C., Wang, N., Warren, H. R., Wen, W., Wilsgaard, T., Wong, A., Wood, A. R., Xie, T., Zafarmand, M. H., Zhao, J. H., Zhao, W., Amin, N., Arzumanyan, Z., Astrup, A., Bakker, S. J. L., Baldassarre, D., Beekman, M., Bergman, R. N., Bertoni, A., Blüher, M., Bonnycastle, L. L., Bornstein, S. R., Bowden, D. W., Cai, Q., Campbell, A., Campbell, H., Chang, Y. C., de Geus, E. J. C., Dehghan, A., Du, S., Eiriksdottir, G., Farmaki, A. E., Frånberg, M., Fuchsberger, C., Gao, Y., Gjesing, A. P., Goel, A., Han, S., Hartman, C. A., Herder, C., Hicks, A. A., Hsieh, C. H., Hsueh, W. A., Ichihara, S., Igase, M., Ikram, M. A., Johnson, W. C., Jørgensen, M. E., Joshi, P. K., Kalyani, R. R., Kandeel, F. R., Katsuya, T., Khor, C. C., Kiess, W., Kolcic, I., Kuulasmaa, T., Kuusisto, J., Läll, K., Lam, K., Lawlor, D. A., Lee, N. R., Lemaitre, R. N., Li, H., Lin, S. Y., Lindström, J., Linneberg, A., Liu, J., Lorenzo, C., Matsubara, T., Matsuda, F., Mingrone, G., Mooijaart, S., Moon, S., Nabika, T., Nadkarni, G. N., Nadler, J. L., Nelis, M., Neville, M. J., Norris, J. M., Ohyagi, Y., Peters, A., Peyser, P. A., Polasek, O., Qi, Q., Raven, D., Reilly, D. F., Reiner, A., Rivideneira, F., Roll, K., Rudan, I., Sabanayagam, C., Sandow, K., Sattar, N., Schürmann, A., Shi, J., Stringham, H. M., Taylor, K. D., Teslovich, T. M., Thuesen, B., Timmers, P. R. H. J., Tremoli, E., Tsai, M. Y., Uitterlinden, A., van Dam, R. M., van Heemst, D., van Hylckama Vlieg, A., Van Vliet-Ostaptchouk, J. V., Vangipurapu, J., Vestergaard, H., Wang, T., Willems van Dijk, K., Zemunik, T., Abecasis, G. R., Adair, L. S., Aguilar-Salinas, C. A., Alarcón-Riquelme, M. E., An, P., Aviles-Santa, L., Becker, D. M., Beilin, L. J., Bergmann, S., Bisgaard, H., Black, C., Boehnke, M., Boerwinkle, E., Böhm, B. O., Bønnelykke, K., Boomsma, D. I., Bottinger, E. P., Buchanan, T. A., Canouil, M., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Ida Chen, Y. D., Cheng, C. Y., Collins, F. S., Correa, A., Cucca, F., Janaka de Silva, H., Dedoussis, G., Elmståhl, S., Evans, M. K., Ferrannini, E., Ferrucci, L., Florez, J. C., Franks, P. W., Frayling, T. M., Froguel, P., Gigante, B., Goodarzi, M. O., Gordon-Larsen, P., Grallert, H., Grarup, N., Grimsgaard, S., Groop, L., Gudnason, V., Guo, X., Hamsten, A., Hansen, T., Hayward, C., Heckbert, S. R., Horta, B. L., Huang, W., Ingelsson, E., James, P. S., Jarvelin, M. R., Jonas, J. B., Jukema, J. W., Kaleebu, P., Kaplan, R., Kardia, S. L. R., Kato, N., Keinanen-Kiukaanniemi, S. M., Kim, B. J., Kivimaki, M., Koistinen, H. A., Kooner, J. S., Körner, A., Kovacs, P., Kuh, D., Kumari, M., Kutalik, Z., Laakso, M., Lakka, T. A., Launer, L. J., Leander, K., Li, H., Lin, X., Lind, L., Lindgren, C., Liu, S., Loos, R. J. F., Magnusson, P. K. E., Mahajan, A., Metspalu, A., Mook-Kanamori, D. O., Mori, T. A., Munroe, P. B., Njølstad, I., O'Connell, J. R., Oldehinkel, A. J., Ong, K. K., Padmanabhan, S., Palmer, C. N. A., Palmer, N. D., Pedersen, O., Pennell, C. E., Porteous, D. J., Pramstaller, P. P., Province, M. A., Psaty, B. M., Qi, L., Raffel, L. J., Rauramaa, R., Redline, S., Ridker, P. M., Rosendaal, F. R., Saaristo, T. E., Sandhu, M., Saramies, J., Schneiderman, N., Schwarz, P., Scott, L. J., Selvin, E., Sever, P., Shu, X. O., Slagboom, P. E., Small, K. S., Smith, B. H., Snieder, H., Sofer, T., Sørensen, T. I. A., Spector, T. D., Stanton, A., Steves, C. J., Stumvoll, M., Sun, L., Tabara, Y., Tai, E. S., Timpson, N. J., Tönjes, A., Tuomilehto, J., Tusie, T., Uusitupa, M., van der Harst, P., van Duijn, C., Vitart, V., Vollenweider, P., Vrijkotte, T. G. M., Wagenknecht, L. E., Walker, M., Wang, Y. X., Wareham, N. J., Watanabe, R. M., Watkins, H., Wei, W. B., Wickremasinghe, A. R., Willemsen, G., Wilson, J. F., Wong, T. Y., Wu, J. Y., Xiang, A. H., Yanek, L. R., Yengo, L., Yokota, M., Zeggini, E., Zheng, W., Zonderman, A. B., Rotter, J. I., Gloyn, A. L., McCarthy, M. I., Dupuis, J., Meigs, J. B., Scott, R. A., Prokopenko, I., Leong, A., Liu, C. T., Parker, S. C. J., Mohlke, K. L., Langenberg, C., Wheeler, E., Morris, A. P., Barroso, I., Võsa, U., Burling, K., Walker, L., Ord, J., Barker, P., Warner, J., Frary, A., Renhstrom, K., Ashford, S. E., Piper, J., Biggs, G., Erber, W. N., Hoffman, G. J., Schoenmakers, N., Rieneck, K., Dziegiel, M. H., Azzu, V., Vacca, M., Aparicio, H. J., Hui, Q., Cho, K., Sun, Y. V., Wilson, P. W., Bayraktar, O. A., Vidal-Puig, A., Ostrowski, S. R., Astle, W. J., Olsson, M. L., Storry, J. R., Pedersen, O. B., Ouwehand, W. H., Chatterjee, K., Vuckovic, D. & Frontini, M., Sep 13 2024, In: Med. 5, 9, p. 1083-1095.e6

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

    2 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.

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

    Open Access
    2 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 journal › Article › peer-review

    Open Access
    2 Scopus citations

  • The association between frailty and perceived physical and mental fatigability: The Long Life Family Study

    Schumacher, B. T., Kehler, D. S., Kulminski, A. M., Qiao, Y., Andersen, S. L., Gmelin, T., Christensen, K., Wojczynski, M. K., Theou, O., Rockwood, K., Newman, A. B. & Glynn, N. W., Jan 2024, In: Journal of the American Geriatrics Society. 72, 1, p. 219-225 7 p.

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

  • 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.

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

    18 Scopus citations

  • The design of studies for investigating linkage and association

    Rice, J. P., Saccone, N. L. & Suarez, B. K., Jan 1 2024, Analysis of Multifactorial Disease. CRC Press, p. 37-62 26 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection

    Hayeck, T. J., Li, Y., Mosbruger, T. L., Bradfield, J. P., Gleason, A. G., Damianos, G., Shaw, G. T. W., Duke, J. L., Conlin, L. K., Turner, T. N., Fernández-Viña, M. A., Sarmady, M. & Monos, D. S., Feb 1 2024, In: Genome Biology and Evolution. 16, 2, evae009.

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

    Open Access
    1 Scopus citations

  • The Protective Effect of Familial Longevity Persists After Age 100: Findings From the Danish National Registers

    Galvin, A., Pedersen, J. K., Wojczynski, M. K., Ukraintseva, S., Arbeev, K., Feitosa, M., Province, M. A. & Christensen, K., Jan 1 2024, In: Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 79, 1, glad164.

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

    Open Access

  • 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.

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

    Open Access
    4 Scopus citations

  • The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

    Undiagnosed Diseases Network, Oct 2024, In: Genetics in Medicine. 26, 10, 101203.

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

  • TIMely connections: APOE4, aging, and Alzheimer's

    Li, Q., Jan 9 2024, In: Immunity. 57, 1, p. 8-10 3 p.

    Research output: Contribution to journal › Comment/debate

    Open Access
    2 Scopus citations

  • Towards targeting transposable elements for cancer therapy

    Liang, Y., Qu, X., Shah, N. M. & Wang, T., Feb 2024, In: Nature Reviews Cancer. 24, 2, p. 123-140 18 p.

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

    20 Scopus citations

  • Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway

    Koenitzer, J. R., Gupta, D. K., Twan, W. K., Xu, H., Hadas, N., Hawkins, F. J., Beermann, M. L., Penny, G. M., Wamsley, N. T., Berical, A., Major, M. B., Dutcher, S. K., Brody, S. L. & Horani, A., Sep 10 2024, In: JCI Insight. 9, 17, e180198.

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

    Open Access

  • Transcription factor interactions explain the context-dependent activity of CRX binding sites

    Loell, K. J., Friedman, R. Z., Myers, C. A., Corbo, J. C., Cohen, B. A. & White, M. A., Jan 2024, In: PLoS computational biology. 20, 1, e1011802.

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

    Open Access
    3 Scopus citations

  • TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

    Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, Thauvin-Robinet, C., Liu, J., Bruel, A. L., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Van Der Smagt, J., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Van Slegtenhorst, M., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M. & Kruer, M. C., Jan 1 2024, In: Brain. 147, 1, p. 311-324 14 p.

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

    5 Scopus citations

  • TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

    Duy, P. Q., Jux, B., Zhao, S., Mekbib, K. Y., Dennis, E., Dong, W., Nelson-Williams, C., Mehta, N. H., Shohfi, J. P., Juusola, J., Allington, G., Smith, H., Marlin, S., Belhous, K., Monteleone, B., Schaefer, G. B., Pisarska, M. D., Vásquez, J., Estrada-Veras, J. I. & Keren, B. & 10 others, Mignot, C., Flore, L. A., Palafoll, I. V., Alper, S. L., Lifton, R. P., Haider, S., Moreno-De-Luca, A., Jin, S. C., Kolanus, W. & Kahle, K. T., Dec 1 2024, In: Brain. 147, 12, p. 4292-4305 14 p.

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

    6 Scopus citations

  • Ultrastructure expansion microscopy (U-ExM) of mouse and human kidneys for analysis of subcellular structures

    Langner, E., Puapatanakul, P., Pudlowski, R., Alsabbagh, D. Y., Miner, J. H., Horani, A., Dutcher, S. K., Brody, S. L., Wang, J. T., Suleiman, H. Y. & Mahjoub, M. R., Nov 2024, In: Cytoskeleton. 81, 11, p. 618-638 21 p.

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

    Open Access
    3 Scopus citations

  • Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

    Starosta, R. T., Jensen, N., Couteranis, S., Slaugh, R., Easterlin, D., Tate, V., Sams, E. I., Valle, K., Akinwe, T., Hou, Y. C. C., Turner, T. N., Cole, F. S., Milbrandt, J. & Dickson, P., Sep 2024, In: European Journal of Human Genetics. 32, 9, p. 1095-1105 11 p.

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

    3 Scopus citations

  • Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency

    Tafaleng, E. N., Li, J., Wang, Y., Hidvegi, T., Soto-Gutierrez, A., Locke, A. E., Nicholas, T. J., Wang, Y. C., Pak, S., Cho, M. H., Silverman, E. K., Silverman, G. A., Jin, S. C., Fox, I. J. & Perlmutter, D. H., Oct 1 2024, In: Hepatology. 80, 4, p. 859-871 13 p.

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

    Open Access
    1 Scopus citations

  • Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

    Undiagnosed Diseases Network, Dec 2024, In: Nature communications. 15, 1, 7909.

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

    1 Scopus citations

  • Visual Deprivation during Mouse Critical Period Reorganizes Network-Level Functional Connectivity

    Chen, S., Rahn, R. M., Bice, A. R., Bice, S. H., Padawer-Curry, J. A., Hengen, K. B., Dougherty, J. & Culver, J. P., May 8 2024, In: Journal of Neuroscience. 44, 19, e1019232024.

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

    Open Access
    2 Scopus citations

  • Whole Genome Linkage and Association Analyses Identify DLG Associated Protein-1 as a Novel Positional and Biological Candidate Gene for Muscle Strength: The Long Life Family Study

    Long Life Family Study, Santanasto, A. J., Acharya, S., Wojczynski, M. K., Cvejkus, R. K., Lin, S., Brent, M. R., Anema, J. A., Wang, L., Thyagarajan, B., Christensen, K., Daw, E. W. & Zmuda, J. M., Aug 1 2024, In: Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 79, 8, glae144.

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

  • Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease

    Xicota, L., Cosentino, S., Vardarajan, B., Mayeux, R., Perls, T. T., Andersen, S. L., Zmuda, J. M., Thyagarajan, B., Yashin, A., Wojczynski, M. K., Krinsky-McHale, S., Handen, B. L., Christian, B. T., Head, E., Mapstone, M. E., Schupf, N., Lee, J. H. & Barral, S., Apr 2024, In: Alzheimer's and Dementia. 20, 4, p. 2670-2679 10 p.

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

    Open Access
    4 Scopus citations

  • WormBase 2024: status and transitioning to Alliance infrastructure

    Sternberg, P. W., Van Auken, K., Wang, Q., Wright, A., Yook, K., Zarowiecki, M., Arnaboldi, V., Becerra, A., Brown, S., Cain, S., Chan, J., Chen, W. J., Cho, J., Davis, P., Diamantakis, S., Dyer, S., Grigoriadis, D., Grove, C. A., Harris, T. & Howe, K. & 11 others, Kishore, R., Lee, R., Longden, I., Luypaert, M., Müller, H. M., Nuin, P., Quinton-Tulloch, M., Raciti, D., Schedl, T., Schindelman, G. & Stein, L., May 2024, In: Genetics. 227, 1, iyae050.

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

    Open Access
    48 Scopus citations
  • 2023

    Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

    NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Apr 27 2023, In: Nature. 616, 7958, p. 755-763 9 p.

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

    46 Scopus citations

  • A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells

    Wilson, A. F., Barakat, R., Mu, R., Karush, L. L., Gao, Y., Hartigan, K. A., Chen, J. K., Shu, H., Turner, T. N., Maloney, S. E., Mennerick, S. J., Gutmann, D. H. & Anastasaki, C., Dec 15 2023, In: Human molecular genetics. 32, 24, p. 3342-3352 11 p.

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

    Open Access
    2 Scopus citations

  • A comprehensive assay of social motivation reveals sex-specific roles of autism-associated genes and oxytocin

    Maloney, S. E., Sarafinovska, S., Weichselbaum, C., McCullough, K. B., Swift, R. G., Liu, Y. & Dougherty, J. D., Jun 26 2023, In: Cell Reports Methods. 3, 6, 100504.

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

    Open Access
    4 Scopus citations

  • A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

    Undiagnosed Diseases Network, Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Quinlan, A., Schedl, T., Solnica-Krezel, L. & Wambach, J., Apr 2023, In: Genetics in Medicine. 25, 4, 100353.

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

    1 Scopus citations

  • Acorn: an R package for de novo variant analysis

    Turner, T. N., Dec 2023, In: BMC bioinformatics. 24, 1, 330.

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

    Open Access

  • A Cre-deleter specific for embryo-derived brain macrophages reveals distinct features of microglia and border macrophages

    Brioschi, S., Belk, J. A., Peng, V., Molgora, M., Rodrigues, P. F., Nguyen, K. M., Wang, S., Du, S., Wang, W. L., Grajales-Reyes, G. E., Ponce, J. M., Yuede, C. M., Li, Q., Baer, J. M., DeNardo, D. G., Gilfillan, S., Cella, M., Satpathy, A. T. & Colonna, M., May 9 2023, In: Immunity. 56, 5, p. 1027-1045.e8

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

    Open Access
    40 Scopus citations

  • A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo

    Lagunas, T., Plassmeyer, S. P., Fischer, A. D., Friedman, R. Z., Rieger, M. A., Selmanovic, D., Sarafinovska, S., Sol, Y. K., Kasper, M. J., Fass, S. B., Aguilar Lucero, A. F., An, J. Y., Sanders, S. J., Cohen, B. A. & Dougherty, J. D., Dec 2023, In: Communications Biology. 6, 1, 1151.

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

    Open Access
    4 Scopus citations

  • Adipocyte NMNAT1 expression is essential for nuclear NAD+ biosynthesis but dispensable for regulating thermogenesis and whole-body energy metabolism

    Yamaguchi, S., Kojima, D., Iqbal, T., Kosugi, S., Franczyk, M. P., Qi, N., Sasaki, Y., Yaku, K., Kaneko, K., Kinouchi, K., Itoh, H., Hayashi, K., Nakagawa, T. & Yoshino, J., Sep 24 2023, In: Biochemical and Biophysical Research Communications. 674, p. 162-169 8 p.

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

    Open Access
    3 Scopus citations