Search results

  • 2022

    Variable clinical severity in TANGO2 deficiency: Case series and literature review

    Undiagnosed Diseases Network, Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 473-487 15 p.

    Research output: Contribution to journalArticlepeer-review

    22 Scopus citations
  • Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

    Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R. G., Achleitner, M. T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R. J. T., Pais, L. S. & Austin-Tse, C. & 14 others, O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S. C., Wilbert, F., Kruer, M. C., Wortmann, S. B., Eckenweiler, M., Mayr, J. A., Distelmaier, F., Steinfeld, R., Winkelmann, J. & Prokisch, H., Feb 2022, In: Annals of neurology. 91, 2, p. 225-237 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • WashU Epigenome Browser update 2022

    Li, D., Purushotham, D., Harrison, J. K., Hsu, S., Zhuo, X., Fan, C., Liu, S., Xu, V., Chen, S., Xu, J., Ouyang, S., Wu, A. S. & Wang, T., Jul 5 2022, In: Nucleic acids research. 50, W1, p. W774-W781

    Research output: Contribution to journalArticlepeer-review

    Open Access
    69 Scopus citations
  • White matter abnormalities in the Hdc knockout mouse, a model of tic and OCD pathophysiology

    Jindachomthong, K., Yang, C., Huang, Y., Coman, D., Rapanelli, M., Hyder, F., Dougherty, J., Frick, L. & Pittenger, C., Nov 24 2022, In: Frontiers in Molecular Neuroscience. 15, 1037481.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

    Dong, W., Wong, K. H. Y., Liu, Y., Levy-Sakin, M., Hung, W. C., Li, M., Li, B., Jin, S. C., Choi, J., Lopez-Giraldez, F., Vaka, D., Poon, A., Chu, C., Lao, R., Balamir, M., Movsesyan, I., Malloy, M. J., Zhao, H., Kwok, P. Y. & Kane, J. P. & 2 others, Lifton, R. P. & Pullinger, C. R., Jun 2022, In: Journal of lipid research. 63, 6, 100209.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals

    Tahir, U. A., Katz, D. H., Avila-Pachecho, J., Bick, A. G., Pampana, A., Robbins, J. M., Yu, Z., Chen, Z. Z., Benson, M. D., Cruz, D. E., Ngo, D., Deng, S., Shi, X., Zheng, S., Eisman, A. S., Farrell, L., Hall, M. E., Correa, A., Tracy, R. P. & Durda, P. & 410 others, Taylor, K. D., Liu, Y., Johnson, W. C., Guo, X., Yao, J., Chen, Y. D. I., Manichaikul, A. W., Ruberg, F. L., Blaner, W. S., Jain, D., Bouchard, C., Sarzynski, M. A., Rich, S. S., Rotter, J. I., Wang, T. J., Wilson, J. G., Clish, C. B., Natarajan, P., Gerszten, R. E., Abe, N., Abecasis, G., Aguet, F., Albert, C., Almasy, L., Alonso, A., Ament, S., 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., Carty, C., Casaburi, R., Romero, J. P. C., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y. C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Chung, R. H., Comhair, S., Conomos, M., Cornell, E., 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., Fuentes, L. D. L., de Vries, P., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Dugan-Perez, S., Duggirala, R., 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., 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., Gupta, N., Haessler, J., 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., Jaquish, C., Johnsen, J., Johnson, A., Johnston, R., Jones, K., Kang, H. M., Kaplan, R., Kardia, S., Kelly, S., Kenny, E., Kessler, M., Khan, A., Khan, Z., Kim, W., Kimoff, J., Kinney, G., Konkle, B., Kooperberg, C., Kramer, H., Lange, C., Lange, E., Lange, L., Laurie, C., Laurie, C., LeBoff, M., Lee, J., Lee, S., Lee, W. J., LeFaive, J., Levine, D., Levy, D., Lewis, J., Li, X., Li, Y., Lin, H., Lin, H., Lin, X., Liu, S., Liu, Y., Loos, R. J. F., Lubitz, S., Lunetta, K., Luo, J., Magalang, U., Mahaney, M., Make, B., Manning, A., Manson, J. A., Martin, L., Marton, M., Mathai, S., Mathias, R., May, S., McArdle, P., McDonald, M. L., McFarland, S., McGarvey, S., McGoldrick, D., McHugh, C., McNeil, B., Mei, H., Meigs, J., Menon, V., Mestroni, L., Metcalf, G., Meyers, D. A., Mignot, E., Mikulla, J., Min, N., Minear, M., Minster, R. L., Mitchell, B. D., Moll, M., Momin, Z., Montasser, M. E., Montgomery, C., Muzny, D., Mychaleckyj, J. C., Nadkarni, G., Naik, R., Naseri, T., Nekhai, S., Nelson, S. C., Neltner, B., Nessner, C., Nickerson, D., Nkechinyere, O., North, K., O’Connell, J., O’Connor, T., Ochs-Balcom, H., Okwuonu, G., Pack, A., Paik, D. T., Palmer, N., Pankow, J., Papanicolaou, G., Parker, C., Peloso, G., Peralta, J. M., Perez, M., Perry, J., Peters, U., Peyser, P., Phillips, L. S., Pleiness, J., Pollin, T., Post, W., Becker, J. P., Boorgula, M. P., Preuss, M., Psaty, B., Qasba, P., Qiao, D., Qin, Z., Rafaels, N., Raffield, L., Rajendran, M., Ramachandran, V. S., Rao, D. C., Rasmussen-Torvik, L., Ratan, A., Redline, S., Reed, R., Reeves, C., Regan, E., Reiner, A., Reupena, M. S., Rice, K., Robillard, R., Robine, N., Dan Roden, R., Roselli, C., Ruczinski, I., Runnels, A., Russell, P., Ruuska, S., Sabino, E. C., Saleheen, D., Salimi, S., Salvi, S., Salzberg, S., Sandow, K., Sankaran, V. G., Santibanez, J., Schwander, K., Schwartz, D., Sciurba, F., Seidman, C., Seidman, J., Sériès, F., Sheehan, V., Sherman, S. L., Shetty, A., Shetty, A., Sheu, W. H. H., Shoemaker, M. B., Silver, B., Silverman, E., Skomro, R., Smith, A. V., Smith, J., Smith, J., Smith, N., Smith, T., Smoller, S., Snively, B., Snyder, M., Sofer, T., Sotoodehnia, N., Stilp, A. M., Storm, G., Streeten, E., Su, J. L., Sung, Y. J., Sylvia, J., Szpiro, A., Taliun, D., Tang, H., Taub, M., Taylor, M., Taylor, S., Telen, M., Thornton, T. A., Threlkeld, M., Tinker, L., Tirschwell, D., Tishkoff, S., Tiwari, H., Tong, C., Tsai, M., Vaidya, D., Van Den Berg, D., VandeHaar, P., Vrieze, S., Walker, T., Wallace, R., Walts, A., Wang, F. F., Wang, H., Wang, J., Watson, K., Watt, J., Weeks, D. E., Weinstock, J., Weir, B., Weiss, S. T., Weng, L. C., Wessel, J., Willer, C., Williams, K., Williams, L. K., Wilson, C., Winterkorn, L., Wong, Q., Wu, J., Xu, H., Yanek, L., Yang, I., Yu, K., Zekavat, S. M., Zhang, Y., Zhao, S. X., Zhao, W., Zhu, X., Ziv, E., Zody, M. & Zoellner, S., Dec 2022, In: Nature communications. 13, 1, 4923.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • Whole-genome profiling of DNA methylation and hydroxymethylation identifies distinct regulatory programs among innate lymphocytes

    Peng, V., Xing, X., Bando, J. K., Trsan, T., Di Luccia, B., Collins, P. L., Li, D., Wang, W. L., Lee, H. J., Oltz, E. M., Wang, T. & Colonna, M., Apr 2022, In: Nature immunology. 23, 4, p. 619-631 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • Open Access
    27 Scopus citations
  • WormBase in 2022-data, processes, and tools for analyzing Caenorhabditis elegans

    Davis, P., Zarowiecki, M., Arnaboldi, V., Becerra, A., Cain, S., Chan, J., Chen, W. J., Cho, J., da Veiga Beltrame, E., Diamantakis, S., Gao, S., Grigoriadis, D., Grove, C. A., Harris, T. W., Kishore, R., Le, T., Lee, R. Y. N., Luypaert, M., Müller, H. M. & Nakamura, C. & 19 others, Nuin, P., Paulini, M., Quinton-Tulloch, M., Raciti, D., Rodgers, F. H., Russell, M., Schindelman, G., Singh, A., Stickland, T., Van Auken, K., Wang, Q., Williams, G., Wright, A. J., Yook, K., Berriman, M., Howe, K. L., Schedl, T., Stein, L. & Sternberg, P. W., Apr 2022, In: Genetics. 220, 4, iyac003.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    142 Scopus citations
  • β-Hydroxybutyrate suppresses colorectal cancer

    Dmitrieva-Posocco, O., Wong, A. C., Lundgren, P., Golos, A. M., Descamps, H. C., Dohnalová, L., Cramer, Z., Tian, Y., Yueh, B., Eskiocak, O., Egervari, G., Lan, Y., Liu, J., Fan, J., Kim, J., Madhu, B., Schneider, K. M., Khoziainova, S., Andreeva, N. & Wang, Q. & 16 others, Li, N., Furth, E. E., Bailis, W., Kelsen, J. R., Hamilton, K. E., Kaestner, K. H., Berger, S. L., Epstein, J. A., Jain, R., Li, M., Beyaz, S., Lengner, C. J., Katona, B. W., Grivennikov, S. I., Thaiss, C. A. & Levy, M., May 5 2022, In: Nature. 605, 7908, p. 160-165 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    162 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 journalArticlepeer-review

    Open Access
    34 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 journalArticlepeer-review

    Open Access
  • 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 journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Open Access
    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 journalArticlepeer-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 journalArticlepeer-review

    Open Access
    30 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 journalArticlepeer-review

    Open Access
    3 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 journalArticlepeer-review

    Open Access
    2 Scopus citations
  • A distinct human cell type expressing MHCII and RORγt with dual characteristics of dendritic cells and type 3 innate lymphoid cells

    Antonova, A. U., Lonardi, S., Monti, M., Missale, F., Fan, C., Coates, M. L., Bugatti, M., Jaeger, N., Rodrigues, P. F., Brioschi, S., Trsan, T., Fachi, J. L., Nguyen, K. M., Nunley, R. M., Moratto, D., Zini, S., Kong, L., Deguine, J., Peeples, M. E. & Xavier, R. J. & 5 others, Clatworthy, M. R., Wang, T., Cella, M., Vermi, W. & Colonna, M., 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 52, e2318710120.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • A draft human pangenome reference

    Liao, W. W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., Buonaiuto, S., Chang, X. H., Cheng, H., Chu, J., Colonna, V., Eizenga, J. M., Feng, X., Fischer, C., Fulton, R. S. & Garg, S. & 99 others, Groza, C., Guarracino, A., Harvey, W. T., Heumos, S., Howe, K., Jain, M., Lu, T. Y., Markello, C., Martin, F. J., Mitchell, M. W., Munson, K. M., Mwaniki, M. N., Novak, A. M., Olsen, H. E., Pesout, T., Porubsky, D., Prins, P., Sibbesen, J. A., Sirén, J., Tomlinson, C., Villani, F., Vollger, M. R., Antonacci-Fulton, L. L., Baid, G., Baker, C. A., Belyaeva, A., Billis, K., Carroll, A., Chang, P. C., Cody, S., Cook, D. E., Cook-Deegan, R. M., Cornejo, O. E., Diekhans, M., Ebert, P., Fairley, S., Fedrigo, O., Felsenfeld, A. L., Formenti, G., Frankish, A., Gao, Y., Garrison, N. A., Giron, C. G., Green, R. E., Haggerty, L., Hoekzema, K., Hourlier, T., Ji, H. P., Kenny, E. E., Koenig, B. A., Kolesnikov, A., Korbel, J. O., Kordosky, J., Koren, S., Lee, H. J., Lewis, A. P., Magalhães, H., Marco-Sola, S., Marijon, P., McCartney, A., McDaniel, J., Mountcastle, J., Nattestad, M., Nurk, S., Olson, N. D., Popejoy, A. B., Puiu, D., Rautiainen, M., Regier, A. A., Rhie, A., Sacco, S., Sanders, A. D., Schneider, V. A., Schultz, B. I., Shafin, K., Smith, M. W., Sofia, H. J., Abou Tayoun, A. N., Thibaud-Nissen, F., Tricomi, F. F., Wagner, J., Walenz, B., Wood, J. M. D., Zimin, A. V., Bourque, G., Chaisson, M. J. P., Flicek, P., Phillippy, A. M., Zook, J. M., Eichler, E. E., Haussler, D., Wang, T., Jarvis, E. D., Miga, K. H., Garrison, E., Marschall, T., Hall, I. M., Li, H. & Paten, B., May 11 2023, In: Nature. 617, 7960, p. 312-324 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    313 Scopus citations
  • A gap-free genome assembly of Chlamydomonas reinhardtii and detection of translocations induced by CRISPR-mediated mutagenesis

    Payne, Z. L., Penny, G. M., Turner, T. N. & Dutcher, S. K., Mar 13 2023, In: Plant Communications. 4, 2, 100493.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    12 Scopus citations
  • Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity

    Sun, Y. H., Cui, H., Song, C., Shen, J. T., Zhuo, X., Wang, R. H., Yu, X., Ndamba, R., Mu, Q., Gu, H., Wang, D., Murthy, G. G., Li, P., Liang, F., Liu, L., Tao, Q., Wang, Y., Orlowski, S., Xu, Q. & Zhou, H. & 5 others, Jagne, J., Gokcumen, O., Anthony, N., Zhao, X. & Li, X. Z., Dec 2023, In: Nature communications. 14, 1, 812.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • A neural stem cell paradigm of pediatric hydrocephalus

    Duy, P. Q., Rakic, P., Alper, S. L., Robert, S. M., Kundishora, A. J., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Apr 15 2023, In: Cerebral Cortex. 33, 8, p. 4262-4279 18 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    19 Scopus citations
  • A scalable technology for measuring cell-type-specific activity of cis-regulatory sequences

    Cohen, B., Feb 2023, In: Nature Genetics. 55, 2, p. 172-173 2 p.

    Research output: Contribution to journalComment/debate

  • A single-cell massively parallel reporter assay detects cell-type-specific gene regulation

    Zhao, S., Hong, C. K. Y., Myers, C. A., Granas, D. M., White, M. A., Corbo, J. C. & Cohen, B. A., Feb 2023, In: Nature Genetics. 55, 2, p. 346-354 9 p.

    Research output: Contribution to journalArticlepeer-review

    29 Scopus citations
  • A Suite of New Strain Construction Vectors for Gene Expression Knockdown in Budding Yeast

    Shively, C. A., Dong, F. & Mitra, R. D., Feb 17 2023, In: ACS synthetic biology. 12, 2, p. 624-633 10 p.

    Research output: Contribution to journalArticlepeer-review

  • Author Correction: Clonal haematopoiesis and risk of chronic liver disease (Nature, (2023), 616, 7958, (747-754), 10.1038/s41586-023-05857-4)

    NHLBI TOPMed Hematology Working Group, Wong, W. J., Emdin, C., Bick, A. G., Zekavat, S. M., Niroula, A., Pirruccello, J. P., Dichtel, L., Griffin, G., Uddin, M. M., Gibson, C. J., Kovalcik, V., Lin, A. E., McConkey, M. E., Vromman, A., Sellar, R. S., Kim, P. G., Agrawal, M., Weinstock, J. & Long, M. T. & 181 others, Yu, B., Banerjee, R., Nicholls, R. C., Dennis, A., Kelly, M., Loh, P. R., McCarroll, S., Boerwinkle, E., Vasan, R. S., Jaiswal, S., Johnson, A. D., Chung, R. T., Corey, K., Levy, D., Ballantyne, C., Abe, N., Abecasis, G., Aguet, F., Albert, C., Almasy, L., Alonso, A., Ament, S., 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., 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., Chen, Y. D. I., 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., Rao, D. C. & Sung, Y. J., Jul 20 2023, In: Nature. 619, 7970, p. E47

    Research output: Contribution to journalComment/debate

    Open Access
    1 Scopus citations
  • Behavioral state-dependent modulation of insulin-producing cells in Drosophila

    Liessem, S., Held, M., Bisen, R. S., Haberkern, H., Lacin, H., Bockemühl, T. & Ache, J. M., Feb 6 2023, In: Current Biology. 33, 3, p. 449-463.e5

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Open Access
    7 Scopus citations
  • Open Access
    11 Scopus citations
  • Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

    Undiagnosed Diseases Network, Shashi, V., Schoch, K., Ganetzky, R., Muraresku, C., Ganetzky, R., Kranz, P. G., Sondheimer, N., Markert, M. L., Valdez, P., Markert, M. L., Cope, H., Sadeghpour, A., Sadeghpour, A., Roehrs, P., Arbogast, T., Davis, E. E., Tyndall, A. V., Ping-Yee Au, B. & Parboosingh, J. S. & 181 others, Lamont, R. E., Bernier, F. P., Innes, A. M., Esser, M. J., Woodward, K. E., Wright, N. A. M., Benseler, S. M., Parsons, S. J., El-Dairi, M., Smith, E. C., Tennison, M., Davis, E. E., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., 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., 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., 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., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Sep 2023, In: Genetics in Medicine. 25, 9, 100897.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • Calling Cards: A Customizable Platform to Longitudinally Record Protein-DNA Interactions Over Time in Cells and Tissues

    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., Sep 2023, In: Current Protocols. 3, 9, e883.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Capture Methylation-Sensitive Restriction Enzyme Sequencing (Capture MRE-Seq) for Methylation Analysis of Highly Degraded DNA Samples

    Xing, X., Karlow, J. A., Li, D., Jang, H. S., Lee, H. J. & Wang, T., 2023, Methods in Molecular Biology. Humana Press Inc., p. 73-89 17 p. (Methods in Molecular Biology; vol. 2621).

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

  • 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
    81 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
    15 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. 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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
    2 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
    16 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
    1 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

    14 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
    9 Scopus citations
  • Open Access
    3 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

  • 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
    159 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
    5 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
    9 Scopus citations
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    2 Scopus citations