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  • 2024

    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
    10 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
    1 Scopus citations

  • 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
    9 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
    67 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

    8 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

    25 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

    2 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
    7 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
    3 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. E., 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
    1 Scopus citations

  • 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

  • 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. K., Mitra, R. D. & Dougherty, J. D., Dec 2024, In: Nature communications. 15, 1, 10308.

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

    Open Access
    1 Scopus citations

  • 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
    86 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
    2 Scopus citations

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

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

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

    Open Access
    6 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
    8 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
    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