Department of Genetics

Filter
Article

Search results

  • 2024

    Adipocyte-specific inactivation of NAMPT, a key NAD+ biosynthetic enzyme, causes a metabolically unhealthy lean phenotype in female mice during aging

    Qi, N., Franczyk, M. P., Yamaguchi, S., Kojima, D., Hayashi, K., Satoh, A., Ogiso, N., Kanda, T., Sasaki, Y., Finck, B. N., DeBosch, B. J. & Yoshino, J., Jul 2024, In: American Journal of Physiology - Endocrinology and Metabolism. 327, 1, p. E81-E88

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

  • A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

    Trans-Omics for Precision Medicine (TOPMed) program, The INVENT Consortium, de Vries, P. S., Reventun, P., Brown, M. R., Heath, A. S., Huffman, J. E., Le, N. Q., Bebo, A., Brody, J. A., Temprano-Sagrera, G., Raffield, L. M., Ozel, A. B., Thibord, F., Jain, D., Lewis, J. P., Rodriguez, B. A. T., Pankratz, N., Taylor, K. D. & Polasek, O. & 182 others, Chen, M. H., Yanek, L. R., Carrasquilla, G. D., Marioni, R. E., Kleber, M. E., Trégouët, D. A., Yao, J., Li-Gao, R., Joshi, P. K., Trompet, S., Martinez-Perez, A., Ghanbari, M., Howard, T. E., Reiner, A. P., Arvanitis, M., Ryan, K. A., Bartz, T. M., Rudan, I., Faraday, N., Linneberg, A., Ekunwe, L., Davies, G., Delgado, G. E., Suchon, P., Guo, X., Rosendaal, F. R., Klaric, L., Noordam, R., van Rooij, F., Curran, J. E., Wheeler, M. M., Osburn, W. O., O'Connell, J. R., Boerwinkle, E., Beswick, A., Psaty, B. M., Kolcic, I., Souto, J. C., Becker, L. C., Hansen, T., Doyle, M. F., Harris, S. E., Moissl, A. P., Deleuze, J. F., Rich, S. S., van Hylckama Vlieg, A., Campbell, H., Stott, D. J., Soria, J. M., de Maat, M. P. M., Almasy, L., Brody, L. C., Auer, P. L., Abe, N., Abecasis, G., Aguet, F., Albert, C., 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., 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., 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., Gu, C. C., Rao, D. C. & Sung, Y. J., May 2 2024, In: Blood. 143, 18, p. 1845-1855 11 p.

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

    Open Access
    2 Scopus citations

  • An inducible genetic tool to track and manipulate specific microglial states reveals their plasticity and roles in remyelination

    Barclay, K. M., Abduljawad, N., Cheng, Z., Kim, M. W., Zhou, L., Yang, J., Rustenhoven, J., Mazzitelli, J. A., Smyth, L. C. D., Kapadia, D., Brioschi, S., Beatty, W., Hou, J. C., Saligrama, N., Colonna, M., Yu, G., Kipnis, J. & Li, Q., Jun 11 2024, In: Immunity. 57, 6, p. 1394-1412.e8

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

    Open Access
    7 Scopus citations

  • A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

    Singh, A. K., Allington, G., Viviano, S., McGee, S., Kiziltug, E., Ma, S., Zhao, S., Mekbib, K. Y., Shohfi, J. P., Duy, P. Q., DeSpenza, T., Furey, C. G., Reeves, B. C., Smith, H., Sousa, A. M. M., Cherskov, A., Allocco, A., Nelson-Williams, C., Haider, S. & Rizvi, S. R. A. & 10 others, Alper, S. L., Sestan, N., Shimelis, H., Walsh, L. K., Lifton, R. P., Moreno-De-Luca, A., Jin, S. C., Kruszka, P., Deniz, E. & Kahle, K. T., Apr 1 2024, In: Brain. 147, 4, p. 1553-1570 18 p.

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

    4 Scopus citations

  • Assembly of FAP93 at the proximal axoneme in Chlamydomonas cilia

    Hwang, J., Yanagisawa, H., Davis, K. C., Hunter, E. L., Fox, L. A., Jimenez, A. R., Goodwin, R. E., Gordon, S. A., Stuart, C. D. E., Bower, R., Porter, M. E., Dutcher, S. K., Sale, W. S., Lechtreck, K. F. & Alford, L. M., Nov 2024, In: Cytoskeleton. 81, 11, p. 539-555 17 p.

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

    1 Scopus citations

  • A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

    Undiagnosed Diseases Network, Paul, M. S., Michener, S. L., Pan, H., Chan, H., Pfliger, J. M., Rosenfeld, J. A., Lerma, V. C., Tran, A., Longley, M. A., Lewis, R. A., Weisz-Hubshman, M., Bekheirnia, M. R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K. & Mangold, E. & 181 others, Peters, S., Trautmann, J., Mester, J. L., Guillen Sacoto, M. J., Person, R., McDonnell, P. P., Cohen, S. R., Lusk, L., Cohen, A. S. A., Le Pichon, J. B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A. S., Koh, H. Y., Poduri, A., Bolton, J., Knopp, C., Julia Suh, D. S., Maier, A., Toosi, M. B., Karimiani, E. G., Maroofian, R., Schaefer, G. B., Ramakumaran, V., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I. E., Carvill, G. L., Mefford, H., 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., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., 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., 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., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.

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

    Open Access
    4 Scopus citations

  • Baf155 controls hematopoietic differentiation and regeneration through chromatin priming

    Wu, J., Fan, C., Kabir, A. U., Krchma, K., Kim, M., Kwon, Y., Xing, X., Wang, T. & Choi, K., Aug 27 2024, In: Cell Reports. 43, 8, 114558.

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

    Open Access

  • Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

    Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L. & Cohen, S. & 183 others, Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Borras, S., Clark, C., Dean, J., Miedzybrodzka, Z., Ross, A., Tennant, S., Dabir, T., Donnelly, D., Humphreys, M., Magee, A., McConnell, V., McKee, S., McNerlan, S., Morrison, P. J., Rea, G., Stewart, F., Cole, T., Cooper, N., Cooper-Charles, L., Cox, H., Islam, L., Jarvis, J., Keelagher, R., Lim, D., McMullan, D., Morton, J., Naik, S., O'Driscoll, M., Ong, K. R., Osio, D., Ragge, N., Turton, S., Vogt, J., Williams, D., Bodek, S., Donaldson, A., Hills, A., Low, K., Newbury-Ecob, R., Norman, A. M., Roberts, E., Scurr, I., Smithson, S., Tooley, M., Abbs, S., Armstrong, R., Dunn, C., Holden, S., Park, S. M., Paterson, J., Raymond, L., Reid, E., Sandford, R., Simonic, I., Tischkowitz, M., Woods, G., Bradley, L., Comerford, J., Green, A., Lynch, S., McQuaid, S., Mullaney, B., Berg, J., Goudie, D., Mavrak, E., McLean, J., McWilliam, C., Reavey, E., Azam, T., Cleary, E., Jackson, A., Lam, W., Lampe, A., Moore, D., Porteous, M., Baple, E., Baptista, J., Brewer, C., Castle, B., Kivuva, E., Owens, M., Rankin, J., Shaw-Smith, C., Turner, C., Turnpenny, P., Tysoe, C., Bradley, T., Davidson, R., Gardiner, C., Joss, S., Kinning, E., Longman, C., McGowan, R., Murday, V., Pilz, D., Tobias, E., Whiteford, M., Williams, N., Barnicoat, A., Clement, E., Faravelli, F., Hurst, J., Jenkins, L., Jones, W., Ajith Kumar, V. K., Lees, M., Loughlin, S., Male, A., Morrogh, D., Rosser, E., Scott, R., Wilson, L., Beleza, A., Deshpande, C., Flinter, F., Holder, M., Irving, M., Izatt, L., Mohammed, S., Molenda, A., Robert, L., Roworth, W., Ruddy, D., Ryten, M., Yau, S., Bennett, C., Blyth, M., Campbell, J., Coates, A., Dobbie, A., Hewitt, S., Hobson, E., Jackson, E., Jewell, R., Kraus, A., Prescott, K., Sheridan, E., Thomson, J., Bradshaw, K., Dixit, A., Eason, J., Haines, R., Harrison, R., Mutch, S., Sarkar, A., Searle, C., Shannon, N., Sharif, A., Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Feb 2024, In: Genetics in Medicine. 26, 2, 101023.

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

    1 Scopus citations

  • CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

    The Critical Assessment of Genome Interpretation Consortium, Jain, S., Bakolitsa, C., Brenner, S. E., Radivojac, P., Moult, J., Repo, S., Hoskins, R. A., Andreoletti, G., Barsky, D., Chellapan, A., Chu, H., Dabbiru, N., Kollipara, N. K., Ly, M., Neumann, A. J., Pal, L. R., Odell, E., Pandey, G. & Peters-Petrulewicz, R. C. & 181 others, Srinivasan, R., Yee, S. F., Yeleswarapu, S. J., Zuhl, M., Adebali, O., Patra, A., Beer, M. A., Hosur, R., Peng, J., Bernard, B. M., Berry, M., Dong, S., Boyle, A. P., Adhikari, A., Chen, J., Hu, Z., Wang, R., Wang, Y., Miller, M., Wang, Y., Bromberg, Y., Turina, P., Capriotti, E., Han, J. J., Ozturk, K., Carter, H., Babbi, G., Bovo, S., Di Lena, P., Martelli, P. L., Savojardo, C., Casadio, R., Cline, M. S., De Baets, G., Bonache, S., Díez, O., Gutiérrez-Enríquez, S., Fernández, A., Montalban, G., Ootes, L., Özkan, S., Padilla, N., Riera, C., De la Cruz, X., Diekhans, M., Huwe, P. J., Wei, Q., Xu, Q., Dunbrack, R. L., Gotea, V., Elnitski, L., Margolin, G., Fariselli, P., Kulakovskiy, I. V., Makeev, V. J., Penzar, D. D., Vorontsov, I. E., Favorov, A. V., Forman, J. R., Hasenahuer, M., Fornasari, M. S., Parisi, G., Avsec, Z., Çelik, M. H., Nguyen, T. Y. D., Gagneur, J., Shi, F. Y., Edwards, M. D., Guo, Y., Tian, K., Zeng, H., Gifford, D. K., Göke, J., Zaucha, J., Gough, J., Ritchie, G. R. S., Frankish, A., Mudge, J. M., Harrow, J., Young, E. L., Yu, Y., Huff, C. D., Murakami, K., Nagai, Y., Imanishi, T., Mungall, C. J., Jacobsen, J. O. B., Kim, D., Jeong, C. S., Jones, D. T., Li, M. J., Guthrie, V. B., Bhattacharya, R., Chen, Y. C., Douville, C., Fan, J., Kim, D., Masica, D., Niknafs, N., Sengupta, S., Tokheim, C., Turner, T. N., Yeo, H. T. G., Karchin, R., Shin, S., Welch, R., Keles, S., Li, Y., Kellis, M., Corbi-Verge, C., Strokach, A. V., Kim, P. M., Klein, T. E., Mohan, R., Sinnott-Armstrong, N. A., Wainberg, M., Kundaje, A., Gonzaludo, N., Mak, A. C. Y., Chhibber, A., Lam, H. Y. K., Dahary, D., Fishilevich, S., Lancet, D., Lee, I., Bachman, B., Katsonis, P., Lua, R. C., Wilson, S. J., Lichtarge, O., Bhat, R. R., Sundaram, L., Viswanath, V., Bellazzi, R., Nicora, G., Rizzo, E., Limongelli, I., Mezlini, A. M., Chang, R., Kim, S., Lai, C., O’Connor, R., Topper, S., van den Akker, J., Zhou, A. Y., Zimmer, A. D., Mishne, G., Bergquist, T. R., Breese, M. R., Guerrero, R. F., Jiang, Y., Kiga, N., Li, B., Mort, M., Pagel, K. A., Pejaver, V., Stamboulian, M. H., Thusberg, J., Mooney, S. D., Teerakulkittipong, N., Cao, C., Kundu, K., Yin, Y., Yu, C. H., Kleyman, M., Lin, C. F., Stackpole, M., Mount, S. M., Eraslan, G., Mueller, N. S., Naito, T., Rao, A. R., Azaria, J. R., Brodie, A., Ofran, Y., Garg, A., Pal, D., Hawkins-Hooker, A., Kenlay, H., Reid, J. & Mucaki, E. J., Dec 2024, In: Genome biology. 25, 1, 53.

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

    Open Access
    11 Scopus citations

  • Catalytic isoforms of AMP-activated protein kinase differentially regulate IMPDH activity and photoreceptor neuron function

    Lee, T. J., Sasaki, Y., Ruzycki, P. A., Ban, N., Lin, J. B., Wu, H. T., Santeford, A. & Apte, R. S., 2024, In: JCI Insight. 9, 4, e173707.

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

    Open Access
    1 Scopus citations

  • Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB

    McCullough, K. B., Titus, A., Reardon, K., Conyers, S., Dougherty, J. D., Ge, X., Garbow, J. R., Dickson, P., Yuede, C. M. & Maloney, S. E., Dec 2024, In: Journal of neurodevelopmental disorders. 16, 1, 16.

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

    Open Access

  • Cis-regulatory evolution of the recently expanded Ly49 gene family

    Fan, C., Xing, X., Murphy, S. J. H., Poursine-Laurent, J., Schmidt, H., Parikh, B. A., Yoon, J., Choudhary, M. N. K., Saligrama, N., Piersma, S. J., Yokoyama, W. M. & Wang, T., Dec 2024, In: Nature communications. 15, 1, 4839.

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

    Open Access

  • De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

    Undiagnosed Diseases Network, Ward, S. K., Wadley, A., Tsai, C. H., Benke, P. J., Emrick, L., Fisher, K., Houck, K. M., Dai, H., 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. & 181 others, Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., 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., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.

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

  • De novo variants in DENND5B cause a neurodevelopmental disorder

    Undiagnosed Diseases Network, Scala, M., Tomati, V., Ferla, M., Lena, M., Cohen, J. S., Fatemi, A., Brokamp, E., Bican, A., Phillips, J. A., Koziura, M. E., Nicouleau, M., Rio, M., Siquier, K., Boddaert, N., Musante, I., Tamburro, S., Baldassari, S., Iacomino, M. & Scudieri, P. & 181 others, Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Grajewski, A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Petcharet, L., Posey, J. E., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.

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

    Open Access

  • Discovery of genomic and transcriptomic pleiotropy between kidney function and soluble receptor for advanced glycation end products using correlated meta-analyses: The Long Life Family Study

    Feitosa, M. F., Lin, S. J., Acharya, S., Thyagarajan, B., Wojczynski, M. K., Kuipers, A. L., Kulminski, A., Christensen, K., Zmuda, J. M., Brent, M. R. & Province, M. A., Oct 2024, In: Aging Cell. 23, 10, e14261.

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

    Open Access
    2 Scopus citations

  • EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

    Undiagnosed Diseases Network, Forghani, I., Lang, S. H., Rodier, M. J., Bivona, S. A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A. & Baldridge, D. & 181 others, Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bennet, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brokamp, E., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., 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., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Deardorff, M., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Falk, M., Fernandez, L., Ferreira, C., Fieg, E. L., Findley, L. C., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Gochuico, B., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldrich, M. P., Goldstein, D. B., Grajewski, A., Groden, C. A., Gutierrez, I., Hahn, S., Hamid, R., Hanchard, N. A., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Huryn, L., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Karaviti, L., Kennedy, J., Kiley, D., Kobren, S. N., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Kravets, E., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., LaMoure, G. L., Lanpher, B. C., Lanza, I. R., Latham, L., LeBlanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., MacDowall, J., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Mak, B. C., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P. M., Mosbrook-Davis, D., Mulvihill, J. J., Murdock, D. R., Nagy, A., Nakano-Okuno, M., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Pak, S. C., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: American Journal of Medical Genetics, Part A. 194, 6, e63556.

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

    1 Scopus citations

  • Effect of genomic and cellular environments on gene expression noise

    Hong, C. K. Y., Ramu, A., Zhao, S. & Cohen, B. A., Dec 2024, In: Genome biology. 25, 1, 137.

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

    Open Access
    1 Scopus citations

  • Environmental and genetic risk factors associated with total knee arthroplasty following cruciate ligament surgery

    Inclan, P. M., Brophy, R. H., Saccone, N. L., Ma, Y., Pham, V. & Yanik, E. L., Mar 2024, In: Bone and Joint Journal. 106 B, 3, p. 249-255 7 p.

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

    1 Scopus citations

  • Examining Sex Differences in Autism Heritability

    Sandin, S., Yip, B. H. K., Yin, W., Weiss, L. A., Dougherty, J. D., Fass, S., Constantino, J. N., Hailin, Z., Turner, T. N., Marrus, N., Gutmann, D. H., Sanders, S. J. & Christoffersson, B., Jul 3 2024, In: JAMA psychiatry. 81, 7, p. 673-680 8 p.

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

    Open Access
    4 Scopus citations

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

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

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

  • Factors associated with genetic markers for rotator cuff disease in patients with atraumatic rotator cuff tears

    Yanik, E. L., Saccone, N. L., Aleem, A. W., Chamberlain, A. M., Zmistowski, B., Sefko, J. A. & Keener, J. D., May 2024, In: Journal of Orthopaedic Research. 42, 5, p. 934-941 8 p.

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

    1 Scopus citations

  • Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii

    Penny, G. M. & Dutcher, S. K., Mar 18 2024, In: PLoS genetics. 20, 3, 1011038.

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

    Open Access

  • Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center

    Fernandez, M. V., Liu, M., Beric, A., Johnson, M., Cetin, A., Patel, M., Budde, J., Kohlfeld, P., Bergmann, K., Lowery, J., Flynn, A., Brock, W., Sanchez Montejo, B., Gentsch, J., Sykora, N., Norton, J., Gentsch, J., Valdez, O., Gorijala, P. & Sanford, J. & 24 others, Sun, Y., Wang, C., Western, D., Timsina, J., Mangetti Goncalves, T., Do, A. N., Sung, Y. J., Zhao, G., Morris, J. C., Moulder, K., Holtzman, D. M., Bateman, R. J., Karch, C., Hassenstab, J., Xiong, C., Schindler, S. E., Balls-Berry, J., Benzinger, T. L. S., Perrin, R. J., Denny, A., Snider, B. J., Stark, S. L., Ibanez, L. & Cruchaga, C., Dec 2024, In: Scientific data. 11, 1, 768.

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

    Open Access
    2 Scopus citations

  • Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

    Biobank Japan Project, Penn Medicine BioBank, Regeneron Genetics Center, Genes & Health Research Team, eMERGE Consortium, International Consortium of Blood Pressure (ICBP), Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC), VA Million Veteran Program, AMED GRIFIN Diabetes Initiative Japan, Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, H. J., Yin, X., Lorenz, K. M., Mandla, R., Huerta-Chagoya, A., Melloni, G. E. M., Kanoni, S. & Rayner, N. W. & 189 others, Bocher, O., Arruda, A. L., Sonehara, K., Namba, S., Lee, S. S. K., Preuss, M. H., Petty, L. E., Schroeder, P., Vanderwerff, B., Kals, M., Bragg, F., Lin, K., Guo, X., Zhang, W., Yao, J., Kim, Y. J., Graff, M., Takeuchi, F., Nano, J., Lamri, A., Nakatochi, M., Moon, S., Scott, R. A., Cook, J. P., Lee, J. J., Pan, I., Taliun, D., Parra, E. J., Chai, J. F., Bielak, L. F., Tabara, Y., Hai, Y., Thorleifsson, G., Grarup, N., Sofer, T., Wuttke, M., Sarnowski, C., Gieger, C., Nousome, D., Trompet, S., Kwak, S. H., Long, J., Sun, M., Tong, L., Chen, W. M., Nongmaithem, S. S., Noordam, R., Lim, V. J. Y., Tam, C. H. T., Joo, Y. Y., Chen, C. H., Raffield, L. M., Prins, B. P., Nicolas, A., Yanek, L. R., Chen, G., Brody, J. A., Kabagambe, E., An, P., Xiang, A. H., Choi, H. S., Cade, B. E., Tan, J., Broadaway, K. A., Williamson, A., Kamali, Z., Cui, J., Thangam, M., Adair, L. S., Adeyemo, A., Aguilar-Salinas, C. A., Ahluwalia, T. S., Anand, S. S., Bertoni, A., Bork-Jensen, J., Brandslund, I., Buchanan, T. A., Burant, C. F., Butterworth, A. S., Canouil, M., Chan, J. C. N., Chang, L. C., Chee, M. L., Chen, J., Chen, S. H., Chen, Y. T., Chen, Z., Chuang, L. M., Cushman, M., Danesh, J., Das, S. K., de Silva, H. J., Dedoussis, G., Dimitrov, L., Doumatey, A. P., Du, S., Duan, Q., Eckardt, K. U., Emery, L. S., Evans, D. S., Evans, M. K., Fischer, K., Floyd, J. S., Ford, I., Franco, O. H., Frayling, T. M., Freedman, B. I., Genter, P., Gerstein, H. C., Giedraitis, V., González-Villalpando, C., González-Villalpando, M. E., Gordon-Larsen, P., Gross, M., Guare, L. A., Hackinger, S., Hakaste, L., Han, S., Hattersley, A. T., Herder, C., Horikoshi, M., Howard, A. G., Hsueh, W., Huang, M., Huang, W., Hung, Y. J., Hwang, M. Y., Hwu, C. M., Ichihara, S., Ikram, M. A., Ingelsson, M., Islam, M. T., Isono, M., Jang, H. M., Jasmine, F., Jiang, G., Jonas, J. B., Jørgensen, T., Kamanu, F. K., Kandeel, F. R., Kasturiratne, A., Katsuya, T., Kaur, V., Kawaguchi, T., Keaton, J. M., Kho, A. N., Khor, C. C., Kibriya, M. G., Kim, D. H., Kronenberg, F., Kuusisto, J., Läll, K., Lange, L. A., Lee, K. M., Lee, M. S., Lee, N. R., Leong, A., Li, L., Li, Y., Li-Gao, R., Ligthart, S., Lindgren, C. M., Linneberg, A., Liu, C. T., Liu, J., Locke, A. E., Louie, T., Luan, J., Luk, A. O., Luo, X., Lv, J., Lynch, J. A., Lyssenko, V., Maeda, S., Mamakou, V., Mansuri, S. R., Matsuda, K., Meitinger, T., Melander, O., Metspalu, A., Mo, H., Morris, A. D., Moura, F. A., Nadler, J. L., Nalls, M. A., Nayak, U., Ntalla, I., Okada, Y. & Province, M. A., Mar 14 2024, In: Nature. 627, 8003, p. 347-357 11 p.

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

    Open Access
    40 Scopus citations

  • Genetic Pleiotropy Between Pulmonary Function and Age-RelatedTraits:The Long Life Family Study

    Feitosa, M. F., Wojczynski, M. K., Anema, J. A., WarwickDaw, E., Wang, L., Santanasto, A. J., Nygaard, M. & Province, M. A., Mar 1 2024, In: Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 79, 3, glac046.

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

    Open Access
    3 Scopus citations

  • Genetic risk accentuates dietary effects on hepatic steatosis, inflammation and fibrosis in a population-based cohort

    Chen, V. L., Du, X., Oliveri, A., Chen, Y., Kuppa, A., Halligan, B. D., Province, M. A. & Speliotes, E. K., Sep 2024, In: Journal of Hepatology. 81, 3, p. 379-388 10 p.

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

    Open Access
    5 Scopus citations

  • Genome-Wide Epistatic Network Analyses of Semantic Fluency in Older Adults

    Tan, Q., Li, W., Nygaard, M., An, P., Feitosa, M., Wojczynski, M. K., Zmuda, J., Arbeev, K., Ukraintseva, S., Yashin, A., Christensen, K. & Mengel-From, J., May 2024, In: International journal of molecular sciences. 25, 10, 5257.

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

    Open Access

  • HAT: De novo variant calling for highly accurate short-read and long-read sequencing data

    Ng, J. K. & Turner, T. N., Jan 1 2024, In: Bioinformatics. 40, 1, btad775.

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

    Open Access

  • HIV-associated gut microbial alterations are dependent on host and geographic context

    Rocafort, M., Gootenberg, D. B., Luévano, J. M., Paer, J. M., Hayward, M. R., Bramante, J. T., Ghebremichael, M. S., Xu, J., Rogers, Z. H., Munoz, A. R., Okello, S., Kim, J. H., Sentongo, R., Wagubi, R., Lankowski, A., Maruapula, S., Zhao, G., Handley, S. A., Mosepele, M. & Siedner, M. J. & 1 others, Kwon, D. S., Dec 2024, In: Nature communications. 15, 1, 1055.

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

    Open Access
    6 Scopus citations

  • Identification of direct connections between the dura and the brain

    Smyth, L. C. D., Xu, D., Okar, S. V., Dykstra, T., Rustenhoven, J., Papadopoulos, Z., Bhasiin, K., Kim, M. W., Drieu, A., Mamuladze, T., Blackburn, S., Gu, X., Gaitán, M. I., Nair, G., Storck, S. E., Du, S., White, M. A., Bayguinov, P., Smirnov, I. & Dikranian, K. & 2 others, Reich, D. S. & Kipnis, J., Mar 7 2024, In: Nature. 627, 8002, p. 165-173 9 p.

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

    Open Access
    40 Scopus citations

  • Identification of plant transcriptional activation domains

    Morffy, N., Van den Broeck, L., Miller, C., Emenecker, R. J., Bryant, J. A., Lee, T. M., Sageman-Furnas, K., Wilkinson, E. G., Pathak, S., Kotha, S. R., Lam, A., Mahatma, S., Pande, V., Waoo, A., Wright, R. C., Holehouse, A. S., Staller, M. V., Sozzani, R. & Strader, L. C., Aug 1 2024, In: Nature. 632, 8023, p. 166-173 8 p.

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

  • Integrated multiomic profiling of breast cancer in the Chinese population reveals patient stratification and therapeutic vulnerabilities

    Jiang, Y. Z., Ma, D., Jin, X., Xiao, Y., Yu, Y., Shi, J., Zhou, Y. F., Fu, T., Lin, C. J., Dai, L. J., Liu, C. L., Zhao, S., Su, G. H., Hou, W., Liu, Y., Chen, Q., Yang, J., Zhang, N., Zhang, W. J. & Liu, W. & 16 others, Ge, W., Yang, W. T., You, C., Gu, Y., Kaklamani, V., Bertucci, F., Verschraegen, C., Daemen, A., Shah, N. M., Wang, T., Guo, T., Shi, L., Perou, C. M., Zheng, Y., Huang, W. & Shao, Z. M., 2024, (Accepted/In press) In: Nature Cancer.

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

    8 Scopus citations

  • LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

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

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

    Open Access

  • LXR/CD38 activation drives cholesterol-induced macrophage senescence and neurodegeneration via NAD+ depletion

    Terao, R., Lee, T. J., Colasanti, J., Pfeifer, C. W., Lin, J. B., Santeford, A., Hase, K., Yamaguchi, S., Du, D., Sohn, B. S., Sasaki, Y., Yoshida, M. & Apte, R. S., May 28 2024, In: Cell Reports. 43, 5, 114102.

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

    Open Access
    3 Scopus citations

  • Mastigoneme structure reveals insights into the O-linked glycosylation code of native hydroxyproline-rich helices

    Dai, J., Ma, M., Niu, Q., Eisert, R. J., Wang, X., Das, P., Lechtreck, K. F., Dutcher, S. K., Zhang, R. & Brown, A., Apr 11 2024, In: Cell. 187, 8, p. 1907-1921.e16

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

    Open Access
    1 Scopus citations

  • Multiomic and clinical analysis of multiply recurrent meningiomas reveals risk factors, underlying biology, and insights into evolution

    Pugazenthi, S., Patel, B., English, C. W., Leidig, W. A., McGeehan, K. P., McCornack, C. R., Mok, S., Anzaldua-Campos, M., Nouri, S. H., Roberts, K., Chatrath, A., Khan, A. B., Gadot, R., Yano, H., Klisch, T. J., Harmanci, A. S., Patel, A. J. & Kim, A. H., Oct 25 2024, In: Science Advances. 10, 43, eadn4419.

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

  • NAD+ precursors and bile acid sequestration treat preclinical refractory environmental enteric dysfunction

    Malique, A., Sun, S., Chandwe, K., Amadi, B., Haritunians, T., Jain, U., Muegge, B. D., Frein, J., Sasaki, Y., Foster, A., Storer, C. E., Mengesha, E., Kern, J., McGovern, D. P. B., Head, R. D., Kelly, P. & Liu, T. C., 2024, In: Science translational medicine. 16, 728, 4145.

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

    1 Scopus citations

  • New insights into astrocyte diversity from the lens of transcriptional regulation and their implications for neurodegenerative disease treatments

    Saliu, I. O. & Zhao, G., Nov 2024, In: Neural Regeneration Research. 19, 11, p. 2335-2336 2 p.

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

    Open Access

  • Pangenome graph construction from genome alignments with Minigraph-Cactus

    Human Pangenome Reference Consortium, Apr 2024, In: Nature Biotechnology. 42, 4, p. 663-673 11 p.

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

    Open Access
    51 Scopus citations

  • 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

  • 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
    3 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

    Open Access
    2 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

  • 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

    Open Access

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

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

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

    Open Access
    1 Scopus citations

  • 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

  • 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
    1 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

    Open Access
    9 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

  • 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