Department of Genetics

2024

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

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

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

2 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

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

2 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

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

22 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

Open Access

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

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

1 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

Open Access

14 Scopus citations

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

3 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

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

Open Access

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

2 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

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

Open Access

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

2 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

41 Scopus citations

2025

Active learning of enhancers and silencers in the developing neural retina

Friedman, R. Z., Ramu, A., Lichtarge, S., Wu, Y., Tripp, L., Lyon, D., Myers, C. A., Granas, D. M., Gause, M., Corbo, J. C., Cohen, B. A. & White, M. A., Jan 15 2025, In: Cell Systems. 16, 1, 101163.

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

Open Access

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

Undiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.

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

Open Access

Decreased voluntary alcohol intake and ventral striatal epigenetic and transcriptional remodeling in male Acss2 KO mice

Egervari, G., Donahue, G., Cardé, N. A. Q., Alexander, D. C., Hogan, C., Shaw, J. K., Periandri, E. M., Fleites, V., De Biasi, M. & Berger, S. L., Mar 1 2025, In: Neuropharmacology. 265, 110258.

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

Open Access

Implantation of engineered adipocytes suppresses tumor progression in cancer models

Nguyen, H. P., An, K., Ito, Y., Kharbikar, B. N., Sheng, R., Paredes, B., Murray, E., Pham, K., Bruck, M., Zhou, X., Biellak, C., Ushiki, A., Nobuhara, M., Fong, S. L., Bernards, D. A., Lynce, F., Dillon, D. A., Magbanua, M. J. M., Huppert, L. A. & Hammerlindl, H. & 8 others, Klein, J. A., Valdiviez, L., Fiehn, O., Esserman, L., Desai, T. A., Yee, S. W., Rosenbluth, J. M. & Ahituv, N., 2025, (Accepted/In press) In: Nature Biotechnology. 446.

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

Open Access

2 Scopus citations

Lifespan in rodents with MYT1L heterozygous mutation

Schreiber, A., Swift, R. G., Wilson, L., Kroll, K. L., Dougherty, J. & Maloney, S., Dec 2025, In: Scientific reports. 15, 1, 4998.

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

Open Access

M3NetFlow: A multi-scale multi-hop graph AI model for integrative multi-omic data analysis

Zhang, H., Goedegebuure, S. P., Ding, L., DeNardo, D., Fields, R., Province, M., Chen, Y., Payne, P. & Li, F., Mar 21 2025, In: iScience. 28, 3, 111920.

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

Open Access

Novel loci for triglyceride/HDL-C ratio longitudinal change among subjects without T2D

Wang, L., Wang, S., Anema, J. A., Moghaddam, V. A., Lu, Y., Lin, S., Daw, E. W., Kuipers, A. L., Miljkovic, I., Brent, M., Patti, G. J., Thygarajan, B., Zmuda, J. M., Province, M. A. & An, P., Jan 2025, In: Journal of lipid research. 66, 1, 100702.

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

Open Access

Pmp2+ Schwann Cells Maintain the Survival of Large-Caliber Motor Axons

Kozlowski, M. M., Strickland, A., Benitez, A. M., Schmidt, R., Bloom, A. J., Milbrandt, J. & DiAntonio, A., Mar 26 2025, In: Journal of Neuroscience. 45, 13, e1362242025.

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

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer

Ng, J. K., Chen, Y., Akinwe, T. M., Heins, H. B., Mehinovic, E., Chang, Y., Gutmann, D. H., Gurnett, C. A., Payne, Z. L., Manuel, J. G., Karchin, R. & Turner, T. N., Apr 9 2025, In: Cell Genomics. 5, 4, 100807.

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

Open Access

SARM1 Inhibition Maintains Axonal Integrity After Rat Sciatic Nerve Transection and Repair

Sachar, R., Lee, T. Y., DiAntonio, A., Dy, C. J., Wever, J., Milbrandt, J. & Brogan, D. M., 2025, (Accepted/In press) In: Journal of Hand Surgery.

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

Open Access

Similarities and differences in the gene expression signatures of physiological age versus future lifespan

Mosley, M. C., Kinser, H. E., Martin, O. M. F., Stroustrup, N., Schedl, T., Kornfeld, K. & Pincus, Z., Apr 2025, In: Aging Cell. 24, 4, e14428.

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

Open Access

Tracking and mitigating imprint erasure during induction of naive human pluripotency at single-cell resolution

Fischer, L. A., Meyer, B., Reyes, M., Zemke, J. E., Harrison, J. K., Park, K. M., Wang, T., Jüppner, H., Dietmann, S. & Theunissen, T. W., Mar 11 2025, In: Stem Cell Reports. 20, 3, 102419.

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

Open Access

Two cardinal features of ALS, reduced STMN2 and pathogenic TDP-43, synergize to accelerate motor decline in mice

Krus, K. L., Benitez, A. M., Strickland, A., Milbrandt, J., Bloom, A. J. & DiAntonio, A., Feb 2025, In: Experimental Neurology. 384, 115068.

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

Open Access

Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia

Brody, S. L., Pan, J., Huang, T., Xu, J., Xu, H., Koenitizer, J. R., Brennan, S. K., Nanjundappa, R., Saba, T. G., Rumman, N., Berical, A., Hawkins, F. J., Wang, X., Zhang, R., Mahjoub, M. R., Horani, A. & Dutcher, S. K., Jan 29 2025, In: Science translational medicine. 17, 783, eadp5173.

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

1 Scopus citations

Department of Genetics

Research output

Search results