Department of Developmental Biology

2024

7-Dehydrocholesterol is an endogenous suppressor of ferroptosis

Freitas, F. P., Alborzinia, H., dos Santos, A. F., Nepachalovich, P., Pedrera, L., Zilka, O., Inague, A., Klein, C., Aroua, N., Kaushal, K., Kast, B., Lorenz, S. M., Kunz, V., Nehring, H., Xavier da Silva, T. N., Chen, Z., Atici, S., Doll, S. G., Schaefer, E. L. & Ekpo, I. & 27 others, Schmitz, W., Horling, A., Imming, P., Miyamoto, S., Wehman, A. M., Genaro-Mattos, T. C., Mirnics, K., Kumar, L., Klein-Seetharaman, J., Meierjohann, S., Weigand, I., Kroiss, M., Bornkamm, G. W., Gomes, F., Netto, L. E. S., Sathian, M. B., Konrad, D. B., Covey, D. F., Michalke, B., Bommert, K., Bargou, R. C., Garcia-Saez, A., Pratt, D. A., Fedorova, M., Trumpp, A., Conrad, M. & Friedmann Angeli, J. P., Feb 8 2024, In: Nature. 626, 7998, p. 401-410 10 p.

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

Open Access

63 Scopus citations

Absolute quantification of nicotinamide mononucleotide in biological samples by double isotope-mediated liquid chromatography-tandem mass spectrometry (dimeLC-MS/MS)

Unno, J., Mills, K. F., Ogura, T., Nishimura, M. & Imai, S. I., Dec 2024, In: npj Aging. 10, 1, 2.

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

Open Access

3 Scopus citations

A maternal brain hormone that builds bone

Babey, M. E., Krause, W. C., Chen, K., Herber, C. B., Torok, Z., Nikkanen, J., Rodriguez, R., Zhang, X., Castro-Navarro, F., Wang, Y., Wheeler, E. E., Villeda, S., Leach, J. K., Lane, N. E., Scheller, E. L., Chan, C. K. F., Ambrosi, T. H. & Ingraham, H. A., Aug 8 2024, In: Nature. 632, 8024, p. 357-365 9 p.

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

Open Access

4 Scopus citations

An interpretable machine learning-based cerebrospinal fluid proteomics clock for predicting age reveals novel insights into brain aging

Melendez, J., Sung, Y. J., Orr, M., Yoo, A., Schindler, S., Cruchaga, C. & Bateman, R., Sep 2024, In: Aging Cell. 23, 9, e14230.

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

Open Access

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Undiagnosed Diseases Network, Paul, M. S., Michener, S. L., Pan, H., Chan, H., Pfliger, J. M., Rosenfeld, J. A., Lerma, V. C., Tran, A., Longley, M. A., Lewis, R. A., Weisz-Hubshman, M., Bekheirnia, M. R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K. & Mangold, E. & 181 others, Peters, S., Trautmann, J., Mester, J. L., Guillen Sacoto, M. J., Person, R., McDonnell, P. P., Cohen, S. R., Lusk, L., Cohen, A. S. A., Le Pichon, J. B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A. S., Koh, H. Y., Poduri, A., Bolton, J., Knopp, C., Julia Suh, D. S., Maier, A., Toosi, M. B., Karimiani, E. G., Maroofian, R., Schaefer, G. B., Ramakumaran, V., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I. E., Carvill, G. L., Mefford, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.

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

Open Access

4 Scopus citations

A unified total synthesis route to 18-trideuterated and/or 19-trideuterated testosterone, androstenedione and progesterone

Qian, M. & Covey, D. F., May 2024, In: Steroids. 205, 109391.

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

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

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

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

1 Scopus citations

Bone canonical Wnt signaling is downregulated in type 2 diabetes and associates with higher advanced glycation end-products (AGEs) content and reduced bone strength

Leanza, G., Cannata, F., Faraj, M., Pedone, C., Viola, V., Tramontana, F., Pellegrini, N., Vadalà, G., Piccoli, A., Strollo, R., Zalfa, F., Beeve, A. T., Scheller, E. L., Tang, S. Y., Civitelli, R., Maccarrone, M., Papalia, R. & Napoli, N., Apr 10 2024, In: eLife. 12

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

Open Access

4 Scopus citations

Cellular geometry and epithelial-mesenchymal plasticity intersect with PIEZO1 in breast cancer cells

So, C. L., Robitaille, M., Sadras, F., McCullough, M. H., Milevskiy, M. J. G., Goodhill, G. J., Roberts-Thomson, S. J. & Monteith, G. R., Dec 2024, In: Communications Biology. 7, 1, 467.

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

Open Access

Cerebral vascular and blood brain–barrier abnormalities in a mouse model of epilepsy and tuberous sclerosis complex

Guo, D., Zhang, B., Han, L., Rensing, N. R. & Wong, M., Feb 2024, In: Epilepsia. 65, 2, p. 483-496 14 p.

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

3 Scopus citations

Comparison of Behavioral Effects of GABAergic Low- and High-Efficacy Neuroactive Steroids in the Zebrafish Larvae Assay

Germann, A. L., Xu, Y., Covey, D. F., Evers, A. S. & Akk, G., Mar 6 2024, In: ACS Chemical Neuroscience. 15, 5, p. 909-915 7 p.

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

1 Scopus citations

CXCL16-dependent scavenging of oxidized lipids by islet macrophages promotes differentiation of pathogenic CD8⁺ T cells in diabetic autoimmunity

Srivastava, N., Hu, H., Peterson, O. J., Vomund, A. N., Stremska, M., Zaman, M., Giri, S., Li, T., Lichti, C. F., Zakharov, P. N., Zhang, B., Abumrad, N. A., Chen, Y. G., Ravichandran, K. S., Unanue, E. R. & Wan, X., Jul 9 2024, In: Immunity. 57, 7, p. 1629-1647.e8

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

Open Access

6 Scopus citations

Defining cis-regulatory elements and transcription factors that control human cortical interneuron development

Chapman, G., Determan, J., Jetter, H., Kaushik, K., Prakasam, R. & Kroll, K. L., Jun 21 2024, In: iScience. 27, 6, 109967.

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

Open Access

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

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

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

De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

Open Access

Direct measurements of neurosteroid binding to specific sites on GABA_A receptors

Chintala, S. M., Tateiwa, H., Qian, M., Xu, Y., Amtashar, F., Chen, Z. W., Kirkpatrick, C. C., Bracamontes, J., Germann, A. L., Akk, G., Covey, D. F. & Evers, A. S., Nov 2024, In: British Journal of Pharmacology. 181, 21, p. 4229-4244 16 p.

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

Open Access

3 Scopus citations

DMH^Ppp1r17 neurons regulate aging and lifespan in mice through hypothalamic-adipose inter-tissue communication

Tokizane, K., Brace, C. S. & Imai, S. I., Feb 6 2024, In: Cell metabolism. 36, 2, p. 377-392.e11

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

Open Access

4 Scopus citations

DNA methylation–mediated Rbpjk suppression protects against fracture nonunion caused by systemic inflammation

Xiao, D., Fang, L., Liu, Z., He, Y., Ying, J., Qin, H., Lu, A., Shi, M., Li, T., Zhang, B., Guan, J., Wang, C., Abu-Amer, Y. & Shen, J., Feb 10 2024, In: Journal of Clinical Investigation. 134, 3, e168558.

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

Open Access

3 Scopus citations

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

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

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

1 Scopus citations

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

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

1 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

3 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

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

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

1 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

5 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

2 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

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

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. J., 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

3 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

2 Scopus citations

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

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

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

Open Access

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

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

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

Open Access

1 Scopus citations

Sarm1 knockout prevents type 1 diabetic bone disease in females independent of neuropathy

Brazill, J. M., Shen, I. R., Craft, C. S., Magee, K. L., Park, J. S., Lorenz, M., Strickland, A., Wee, N. K., Zhang, X., Beeve, A. T., Meyer, G. A., Milbrandt, J., DiAntonio, A. & Scheller, E. L., 2024, In: JCI Insight. 9, 4, e175159.

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

Open Access

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

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

9 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

4 Scopus citations

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

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

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

Open Access

The 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

1 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

1 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

2 Scopus citations

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

4 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

33 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

A NPAS4–NuA4 complex couples synaptic activity to DNA repair

Pollina, E. A., Gilliam, D. T., Landau, A. T., Lin, C., Pajarillo, N., Davis, C. P., Harmin, D. A., Yap, E. L., Vogel, I. R., Griffith, E. C., Nagy, M. A., Ling, E., Duffy, E. E., Sabatini, B. L., Weitz, C. J. & Greenberg, M. E., Feb 23 2023, In: Nature. 614, 7949, p. 732-741 10 p.

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

Open Access

41 Scopus citations

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: npj Genomic Medicine. 8, 1, 4.

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

Open Access

7 Scopus citations

Department of Developmental Biology

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