Department of Developmental Biology

2024

Ergosterol promotes aggregation of natamycin in the yeast plasma membrane

Szomek, M., Akkerman, V., Lauritsen, L., Walther, H. L., Juhl, A. D., Thaysen, K., Egebjerg, J. M., Covey, D. F., Lehmann, M., Wessig, P., Foster, A. J., Poolman, B., Werner, S., Schneider, G., Müller, P. & Wüstner, D., Oct 2024, In: Biochimica et Biophysica Acta - Biomembranes. 1866, 7, 184350.

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

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

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

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

Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle

Mead, A. F., Wood, N. B., Nelson, S. R., Palmer, B. M., Yang, L., Previs, S. B., Ploysangngam, A., Kennedy, G. G., McAdow, J. F., Tremble, S. M., Zimmermann, M. A., Cipolla, M. J., Ebert, A. M., Johnson, A. N., Gurnett, C. A., Previs, M. J. & Warshaw, D. M., 2024, In: Journal of General Physiology. 156, 12, e202413604.

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

Open Access

1 Scopus citations

Function and Regulation of Bone Marrow Adipose Tissue in Health and Disease: State of the Field and Clinical Considerations

Zhang, X., Tian, L., Majumdar, A. & Scheller, E. L., Jul 2024, In: Comprehensive Physiology. 14, 3, p. 5521-5579 59 p.

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

1 Scopus citations

Global and single-nucleotide resolution detection of 7-methylguanosine in RNA

D’Ambrosi, S., García-Vílchez, R., Kedra, D., Vitali, P., Macias-Cámara, N., Bárcena, L., Gonzalez-Lopez, M., Aransay, A. M., Dietmann, S., Hurtado, A. & Blanco, S., 2024, In: RNA Biology. 21, 1, p. 1-18 18 p.

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

Open Access

3 Scopus citations

GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway

Hoppe, N., Harrison, S., Hwang, S. H., Chen, Z., Karelina, M., Deshpande, I., Suomivuori, C. M., Palicharla, V. R., Berry, S. P., Tschaikner, P., Regele, D., Covey, D. F., Stefan, E., Marks, D. S., Reiter, J. F., Dror, R. O., Evers, A. S., Mukhopadhyay, S. & Manglik, A., Apr 2024, In: Nature Structural and Molecular Biology. 31, 4, p. 667-677 11 p.

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

Open Access

8 Scopus citations

Identification of a myofibroblast differentiation program during neonatal lung development

Yin, Y., Koenitzer, J. R., Patra, D., Dietmann, S., Bayguinov, P., Hagan, A. S. & Ornitz, D. M., May 2024, In: Development (Cambridge). 151, 9, dev202659.

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

Open Access

2 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

Infection and chronic disease activate a systemic brain-muscle signaling axis

Yang, S., Tian, M., Dai, Y., Wang, R., Yamada, S., Feng, S., Wang, Y., Chhangani, D., Ou, T., Li, W., Guo, X., McAdow, J., Rincon-Limas, D. E., Yin, X., Tai, W., Cheng, G. & Johnson, A., 2024, In: Science immunology. 9, 97, eadm7908.

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

6 Scopus citations

Inhibitory Actions of Potentiating Neuroactive Steroids in the Human a1b3g2L g-Aminobutyric Acid Type A Receptor

Pierce, S. R., Germann, A. L., Covey, D. F., Evers, A. S., Steinbach, J. H. & Akk, G., Nov 1 2024, In: Molecular pharmacology. 106, 5, p. 264-277 14 p.

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

Open Access

1 Scopus citations

iPSC-based modeling of preeclampsia identifies epigenetic defects in extravillous trophoblast differentiation

Morey, R., Bui, T., Cheung, V. C., Dong, C., Zemke, J. E., Requena, D., Arora, H., Jackson, M. G., Pizzo, D., Theunissen, T. W. & Horii, M., Apr 19 2024, In: iScience. 27, 4, 109569.

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

Open Access

3 Scopus citations

Large-Scale Mutational Analysis Identifies UNC93B1 Variants that Drive TLR-Mediated Autoimmunity in Mice and Humans

Rael, V. E., Yano, J. A., Huizar, J. P., Slayden, L. C., Weiss, M. A., Turcotte, E. A., Terry, J. M., Zuo, W., Thiffault, I., Pastinen, T., Farrow, E. G., Jenkins, J. L., Becker, M. L., Wong, S. C., Stevens, A. M., Otten, C., Allenspach, E. J., Bonner, D. E., Bernstein, J. A. & Wheeler, M. T. & 243 others, Saxton, R. A., Liu, B., Majer, O., Barton, G. M., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., Colley, H. A., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell’angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., 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., 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., 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., Mikati, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., Papp, J. C., Parker, N. H., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey, B. N., Swerdzewski, Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sampson, J. B., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Solomon, B., Spillmann, R. C., Stergachis, A., Stoler, J. M., Sullivan, K., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tan, Q. K. G., Tan, A. L. M., Tarakad, A., Taylor, H., Tekin, M., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Ungar, R. A., Urv, T. K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Walker, M., Walley, N. M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Hubshman, M. W., Wener, M., Wenger, T., Westerfield, M., Wheeler, M. T., Whitlock, J., Wolfe, L. A., Worley, K., Yamamoto, S., Zhang, Z. & Zuchner, S., Aug 5 2024, In: Journal of Experimental Medicine. 221, 8, e20232005.

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

Open Access

14 Scopus citations

Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegeneration

Lee, S. W., Oh, Y. M., Victor, M. B., Yang, Y., Chen, S., Strunilin, I., Dahiya, S., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Jan 2024, In: Nature Aging. 4, 1, p. 95-109 15 p.

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

Open Access

8 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

3 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

Lysosome-related organelles contain an expansion compartment that mediates delivery of zinc transporters to promote homeostasis

Mendoza, A. D., Dietrich, N., Tan, C. H., Herrera, D., Kasiah, J., Payne, Z., Cubillas, C., Schneider, D. L. & Kornfeld, K., Feb 13 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 7, e2307143121.

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

Open Access

4 Scopus citations

Modeling late-onset Alzheimer's disease neuropathology via direct neuronal reprogramming

Sun, Z., Kwon, J. S., Ren, Y., Chen, S., Walker, C. K., Lu, X., Cates, K., Karahan, H., Sviben, S., Fitzpatrick, J. A. J., Valdez, C., Houlden, H., Karch, C. M., Bateman, R. J., Sato, C., Mennerick, S. J., Diamond, M. I., Kim, J., Tanzi, R. E. & Holtzman, D. M. & 1 others, Yoo, A. S., Aug 2 2024, In: Science (New York, N.Y.). 385, 6708, p. adl2992

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

14 Scopus citations

Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state

Paryani, F., Kwon, J. S., Ng, C. W., Jakubiak, K., Madden, N., Ofori, K., Tang, A., Lu, H., Xia, S., Li, J., Mahajan, A., Davidson, S. M., Basile, A. O., McHugh, C., Vonsattel, J. P., Hickman, R., Zody, M. C., Housman, D. E., Goldman, J. E. & Yoo, A. S. & 2 others, Menon, V. & Al-Dalahmah, O., Dec 2024, In: Nature communications. 15, 1, 6742.

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

Open Access

3 Scopus citations

Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2)

Bodmer, N. K., Knutsen, R. H., Roth, R. A., Castile, R. M., Brodt, M. D., Gierasch, C. M., Broekelmann, T., Gibson, M. A., Haspel, J. A., Lake, S. P., Koenitzer, J. R., Brody, S. L., Silva, M. J., Mecham, R. & Ornitz, D. M., Feb 2024, In: Developmental Dynamics. 253, 2, p. 233-254 22 p.

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

Open Access

6 Scopus citations

Neuroactive steroid effects on autophagy in a human embryonic kidney 293 (HEK) cell model

Salvatore, S. V., Ilagan, M. X. G., Shu, H., Lambert, P. M., Benz, A., Qian, M., Covey, D. F., Zorumski, C. F. & Mennerick, S., Dec 2024, In: Scientific reports. 14, 1, 1042.

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

Open Access

Neurosteroids mediate and modulate the effects of pro-inflammatory stimulation and toll-like receptors on hippocampal plasticity and learning

Izumi, Y., O'Dell, K. A., Cashikar, A. G., Paul, S., Covey, D. F., Mennerick, S. J. & Zorumski, C. F., Jun 2024, In: PloS one. 19, 6 June, e0304481.

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

Open Access

4 Scopus citations

Nonvirialized axion search sensitive to Doppler effects in the Milky Way halo

ADMX Collaboration, Apr 15 2024, In: Physical Review D. 109, 8, 083014.

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

Open Access

2 Scopus citations

Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease

Walker, E. C., Javati, S., Todd, E. M., Matlam, J. P., Lin, X., Bryant, M., Krone, E., Ramani, R., Chandra, P., Green, T. P., Anaya, E. P., Zhou, J. Y., Alexander, K. A., Tong, R. S., Yuasi, L., Boluarte, S., Yang, F., Greenberg, L., Nerbonne, J. M. & Greenberg, M. J. & 10 others, Clemens, R. A., Philips, J. A., Wilson, L. D., Halabi, C. M., DeBosch, B., Blyth, C. C., Druley, T., Kazura, J. W., Pomat, W. S. & Morley, S. C., Dec 2024, In: Nature immunology. 25, 12, p. 2247-2258 12 p.

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

Open Access

1 Scopus citations

Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

Lam, I., Ndayisaba, A., Lewis, A. J., Fu, Y. H., Sagredo, G. T., Kuzkina, A., Zaccagnini, L., Celikag, M., Sandoe, J., Sanz, R. L., Vahdatshoar, A., Martin, T. D., Morshed, N., Ichihashi, T., Tripathi, A., Ramalingam, N., Oettgen-Suazo, C., Bartels, T., Boussouf, M. & Schäbinger, M. & 34 others, Hallacli, E., Jiang, X., Verma, A., Tea, C., Wang, Z., Hakozaki, H., Yu, X., Hyles, K., Park, C., Wang, X., Theunissen, T. W., Wang, H., Jaenisch, R., Lindquist, S., Stevens, B., Stefanova, N., Wenning, G., van de Berg, W. D. J., Luk, K. C., Sanchez-Pernaute, R., Gómez-Esteban, J. C., Felsky, D., Kiyota, Y., Sahni, N., Yi, S. S., Chung, C. Y., Stahlberg, H., Ferrer, I., Schöneberg, J., Elledge, S. J., Dettmer, U., Halliday, G. M., Bartels, T. & Khurana, V., Sep 4 2024, In: Neuron. 112, 17, p. 2886-2909.e16

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

Open Access

6 Scopus citations

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

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

Self-renewing human naïve pluripotent stem cells dedifferentiate in 3D culture and form blastoids spontaneously

Guo, M., Wu, J., Chen, C., Wang, X., Gong, A., Guan, W., Karvas, R. M., Wang, K., Min, M., Wang, Y., Theunissen, T. W., Gao, S. & Silva, J. C. R., Dec 2024, In: Nature communications. 15, 1, 668.

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

Open Access

8 Scopus citations

Single-cell analysis of innate spinal cord regeneration identifies intersecting modes of neuronal repair

Saraswathy, V. M., Zhou, L. & Mokalled, M. H., Dec 2024, In: Nature communications. 15, 1, 6808.

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

Open Access

4 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

24 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

Stereospecific Properties and Intracellular Transport of Novel Intrinsically Fluorescent Neurosteroids

Akkerman, V., Reinholdt, P., Schnoor-Madsen, R., Lauritsen, L., Bader, J., Qian, M., Xu, Y., Akk, G., Scheidt, H. A., Müller, P., Covey, D. F., Evers, A. S., Kongsted, J. & Wüstner, D., Dec 4 2024, In: ACS Chemical Neuroscience. 15, 23, p. 4322-4336 15 p.

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

1 Scopus citations

Symptomatic Benign Prostatic Hyperplasia with Suppressed Epigenetic Regulator HOXB13 Shows a Lower Incidence of Prostate Cancer Development

Barashi, N. S., Li, T., Angappulige, D. H., Zhang, B., O’Gorman, H., Nottingham, C. U., Shetty, A. S., Ippolito, J. E., Andriole, G. L., Mahajan, N. P., Kim, E. H. & Mahajan, K., Jan 2024, In: Cancers. 16, 1, 213.

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

Open Access

6 Scopus citations

Synergistic Protection of Retinal Ganglion Cells (RGCs) by SARM1 Inactivation with CNTF in a Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy

Guo, Y., Mehrabian, Z., Milbrandt, J., DiAntonio, A. & Bernstein, S. L., Feb 2024, In: Cells. 13, 3, 202.

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

Open Access

1 Scopus citations

Synthesis and evaluation of photoaffinity labeling reagents for identifying binding sites of sulfated neurosteroids on NMDA and GABA_A receptors

Qian, M., Xu, Y., Shu, H., Chen, Z. W., Wang, L., Zorumski, C., Evers, A. S., Mennerick, S. & Covey, D. F., Nov 13 2024, In: RSC Advances. 14, 49, p. 36352-36369 18 p.

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

Open Access

1 Scopus citations

The ACE inhibitor captopril inhibits ACN-1 to control dauer formation and aging

Egan, B. M., Pohl, F., Anderson, X., Williams, S. C., Adodo, I. G., Hunt, P., Wang, Z., Chiu, C. H., Scharf, A., Mosley, M., Kumar, S., Schneider, D. L., Fujiwara, H., Hsu, F. F. & Kornfeld, K., 2024, In: Development (Cambridge). 151, 3, p. 1-16 16 p.

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

Open Access

2 Scopus citations

The chondrocyte “mechanome”: Activation of the mechanosensitive ion channels TRPV4 and PIEZO1 drives unique transcriptional signatures

Nims, R., Palmer, D. R., Kassab, J., Zhang, B. & Guilak, F., Jul 15 2024, In: FASEB Journal. 38, 13, e23778.

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

3 Scopus citations

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 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

4 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

Ultra-Efficient Edge Cardiac Disease Detection Towards Real-Time Precision Health

Wong, J., Nerbonne, J. & Zhang, Q., 2024, In: IEEE Access. 12, p. 9940-9951 12 p.

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

Open Access

6 Scopus citations

Vascular restoration through local delivery of angiogenic factors stimulates bone regeneration in critical size defects

Fang, L., Liu, Z., Wang, C., Shi, M., He, Y., Lu, A., Li, X., Li, T., Zhu, D., Zhang, B., Guan, J. & Shen, J., Jun 2024, In: Bioactive Materials. 36, p. 580-594 15 p.

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

Open Access

5 Scopus citations

VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1

Ugur, B., Schueder, F., Shin, J., Hanna, M. G., Wu, Y., Leonzino, M., Su, M., McAdow, A. R., Wilson, C., Postlethwait, J., Solnica-Krezel, L., Bewersdorf, J. & De Camilli, P., Dec 2 2024, In: The Journal of cell biology. 223, 12

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

Open Access

2 Scopus citations

2023

3D-cultured blastoids model human embryogenesis from pre-implantation to early gastrulation stages

Karvas, R. M., Zemke, J. E., Ali, S. S., Upton, E., Sane, E., Fischer, L. A., Dong, C., Park, K. M., Wang, F., Park, K., Hao, S., Chew, B., Meyer, B., Zhou, C., Dietmann, S. & Theunissen, T. W., Sep 7 2023, In: Cell Stem Cell. 30, 9, p. 1148-1165.e7

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

Open Access

44 Scopus citations

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Undiagnosed Diseases Network, Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Quinlan, A., Schedl, T., Solnica-Krezel, L. & Wambach, J., Apr 2023, In: Genetics in Medicine. 25, 4, 100353.

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

Open Access

1 Scopus citations

Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)

Jain, S., Pei, L., Spraggins, J. M., Angelo, M., Carson, J. P., Gehlenborg, N., Ginty, F., Gonçalves, J. P., Hagood, J. S., Hickey, J. W., Kelleher, N. L., Laurent, L. C., Lin, S., Lin, Y., Liu, H., Naba, A., Nakayasu, E. S., Qian, W. J., Radtke, A. & Robson, P. & 464 others, Stockwell, B. R., Van de Plas, R., Vlachos, I. S., Zhou, M., Ahn, K. J., Allen, J., Anderson, D. M., Anderton, C. R., Curcio, C., Angelin, A., Arvanitis, C., Atta, L., Awosika-Olumo, D., Bahmani, A., Bai, H., Balderrama, K., Balzano, L., Bandyopadhyay, G., Bandyopadhyay, S., Bar-Joseph, Z., Barnhart, K., Barwinska, D., Becich, M., Becker, L., Becker, W., Bedi, K., Bendall, S., Benninger, K., Betancur, D., Bettinger, K., Billings, S., Blood, P., Bolin, D., Border, S., Bosse, M., Bramer, L., Brewer, M., Brusko, M., Bueckle, A., Burke, K., Burnum-Johnson, K., Butcher, E., Butterworth, E., Cai, L., Calandrelli, R., Caldwell, M., Campbell-Thompson, M., Cao, D., Cao-Berg, I., Caprioli, R., Caraccio, C., Caron, A., Carroll, M., Chadwick, C., Chen, A., Chen, D., Chen, F., Chen, H., Chen, J., Chen, L., Chen, L., Chiacchia, K., Cho, S., Chou, P., Choy, L., Cisar, C., Clair, G., Clarke, L., Clouthier, K. A., Colley, M. E., Conlon, K., Conroy, J., Contrepois, K., Corbett, A., Corwin, A., Cotter, D., Courtois, E., Cruz, A., Csonka, C., Czupil, K., Daiya, V., Dale, K., Davanagere, S. 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An atlas of healthy and injured cell states and niches in the human kidney

KPMP Consortium, Jul 20 2023, In: Nature. 619, 7970, p. 585-594 10 p.

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

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224 Scopus citations

Department of Developmental Biology

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