Department of Genetics

2024

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

3 Scopus citations

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

Undiagnosed Diseases Network, Aug 2024, In: American Journal of Medical Genetics, Part A. 194, 8, e63627.

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

Open Access

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

13 Scopus citations

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Undiagnosed Diseases Network, Nov 2024, In: Genetics in Medicine. 26, 11, 101218.

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

Open Access

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Undiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101166.

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

1 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

4 Scopus citations

Massively parallel characterization of insulator activity across the genome

Hong, C. K. Y., Wu, Y., Erickson, A. A., Li, J., Federico, A. J. & Cohen, B. A., Dec 2024, In: Nature communications. 15, 1, 8350.

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

Open Access

1 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

Metabolite signatures of chronological age, aging, survival, and longevity

Sebastiani, P., Monti, S., Lustgarten, M. S., Song, Z., Ellis, D., Tian, Q., Schwaiger-Haber, M., Stancliffe, E., Leshchyk, A., Short, M. I., Ardisson Korat, A. V., Gurinovich, A., Karagiannis, T., Li, M., Lords, H. J., Xiang, Q., Marron, M. M., Bae, H., Feitosa, M. F. & Wojczynski, M. K. & 12 others, O'Connell, J. R., Montasser, M. E., Schupf, N., Arbeev, K., Yashin, A., Schork, N., Christensen, K., Andersen, S. L., Ferrucci, L., Rappaport, N., Perls, T. T. & Patti, G. J., Nov 26 2024, In: Cell Reports. 43, 11, 114913.

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

Open Access

1 Scopus citations

Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties

Hanzel, M., Fernando, K., Maloney, S., Horn, Z., Gong, S., Mätlik, K., Zhao, J., Pasolli, H. A., Heissel, S., Dougherty, J. D., Hull, C. & Hatten, M. E., Aug 20 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 34, e2405901121.

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

Open Access

mosGraphGen: a novel tool to generate multi-omics signaling graphs to facilitate integrative and interpretable graph AI model development

Zhang, H., Cao, D., Chen, Z., Zhang, X., Chen, Y., Sessions, C., Cruchaga, C., Payne, P., Li, G., Province, M. & Li, F., 2024, In: Bioinformatics Advances. 4, 1, vbae151.

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

Open Access

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

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

Shepherdson, J. L., Granas, D. M., Li, J., Shariff, Z., Plassmeyer, S. P., Holehouse, A. S., White, M. A. & Cohen, B. A., Oct 2024, In: Genome research. 34, 10, p. 1540-1552 13 p.

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

Open Access

MYT1L deficiency impairs excitatory neuron trajectory during cortical development

Yen, A., Sarafinovska, S., Chen, X., Skinner, D. D., Leti, F., Crosby, M. L., Hoisington-Lopez, J., Wu, Y., Chen, J., Li, Z. A., Noguchi, K., Mitra, R. & Dougherty, J. D., Dec 2024, In: Nature communications. 15, 1, 10308.

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

Open Access

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

60 Scopus citations

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

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

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

Open Access

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

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

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

Open Access

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

4 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

6 Scopus citations

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

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

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

Open Access

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

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

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

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Undiagnosed Diseases Network, Dohrn, M. F., Bademci, G., Rebelo, A. P., Jeanne, M., Borja, N. A., Beijer, D., Danzi, M. C., Bivona, S. A., Gueguen, P., Zafeer, M. F., Tekin, M., Züchner, S., Acosta, M. T., Adams, D. R., Afzali, B., Allworth, A., Alvarez, R. L., Alvey, J. & Andrews, A. & 181 others, Ashley, E. A., Bacino, C. A., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Borja, N., Botto, L., Briere, L. C., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, S., Colley, H. A., Cope, H., Corner, B., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., D'Souza, P., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Ezell, K., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gonzalez, J. M., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, Y., Huang, A., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Latchman, K., LeBlanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S. C., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Neumann, S., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Peart, L., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Rebelo, A., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Apr 2024, In: Annals of Clinical and Translational Neurology. 11, 4, p. 1075-1079 5 p.

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

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

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

1 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

3 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

1 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

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., 2024, (Accepted/In press) In: Aging Cell.

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

Open Access

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

13 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. 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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

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

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. & 333 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. & Eadon, M. T., Dec 2024, In: Nature communications. 15, 1, 433.

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

Open Access

13 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.

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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

2 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.

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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

3 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

1 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.

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Open Access

1 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

1 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

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Department of Genetics

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