Browse by Research Team

2025

Pluripotent stem cell-based drug discovery uncovers sildenafil as a treatment for mitochondrial disease.
Zink, A., Dai, D.F., Wittich, A., Henke, M.T., Pedrotti, G., Heiduschka, S., Aguilar, G.S., Pentimalli, T.M., Brueser, C., Notopoulou, S., Zhaivoron, A., Umar, A.., Petersilie, L., Jerred, C., Bergmans, J., Schumacher, F., Keller-Findeisen, J., Rybak-Wolf, A., Stach, D., Reinshagen, J., Zaliani, A., Haferkamp, U., Euro, L., Di Donfrancesco, A., Santanatoglia, C., Cappellozza, E., Suarez Cubero, M., Pavez-Giani, M., Bakumenko, O., Meierhofer, D., Foley, Al., Morales-Gonzalez, S., Tolle, I., Herebian, D., Bonesso, D., Szabo, I., Cecchetto, G., Nagumo Wong, S., Moresco, M., Maresca, A., Decimo, I., Adjobo-Hermans, M.J.W., Kleuser, B., Cyganek, L., Muehlhausen, C., Schlotawa, L., Tiranti, V., Rossi, A., Mayatepek, E., La Morgia, C., Carelli, V., Klopstock, T., Distelmaier, F., Ullah, G., Jakobs, S., Rajewsky, N., Rose, C.R., Petrakis, S., Edenhofer, F., Koopmann, W., Brunetti, D., Lisowski, P., Suomalainen, A., del Sol, A., Bottani, E., Pless, O., Schuelke, M. and Prigione, A.
medRxiv : 2025.05.15.25325571. 16 May 2025

Neurons to words: a novel method for automated neural network interpretability and alignment.
Puglisi, L.S., Valdés, F. and Metzger, J.J.
In: Thirty-Ninth AAAI Conference on Artificial Intelligence, 25 Feb - 04 Mar, 2025, Philadelphia, PA, USA. 11 April 2025

Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene.
Göttert, R., Vallone, V.F., Stachelscheid, H., Metzger, J.J., Caedo, C.C., Buthut, M., Prüss, H., Endres, M., Schilling, S. and Gertz, K.
Stem Cell Research 83 : 103660. March 2025

2024

CRISPR-enabled point-of-care genotyping for APOL1 genetic risk assessment.
Greensmith, R., Lape, I.T., Riella, C.V., Schubert, A.J., Metzger, J.J., Dighe, A.S., Tan, X., Hemmer, B., Rau, J., Wendlinger, S., Diederich, N., Schütz, A., Riella, L.V. and Kaminski, M.M.
EMBO Molecular Medicine 16 (10): 2619-2637. 14 October 2024

Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
Lisowski, P., Lickfett, S., Rybak-Wolf, A., Menacho, C., Le, S., Pentimalli, T.M., Notopoulou, S., Dykstra, W., Oehler, D., López-Calcerrada, S., Mlody, B., Otto, M., Wu, H., Richter, Y., Roth, P., Anand, R., Kulka, L.A.M., Meierhofer, D., Glazar, P., Legnini, I., Telugu, N.S., Hahn, T., Neuendorf, N., Miller, D.C., Böddrich, A., Polzin, A., Mayatepek, E., Diecke, S., Olzscha, H., Kirstein, J., Ugalde, C., Petrakis, S., Cambridge, S., Rajewsky, N., Kühn, R., Wanker, E.E., Priller, J., Metzger, J.J. and Prigione, A.
Nature Communications 15 (1): 7027. 22 August 2024

Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease.
Menacho, C., Okawa, S., Alvarez-Merz, I., Wittich, A., Muñoz-Oreja, M., Lisowski, P., Pentimalli, T.M., Rybak-Wolf, A., Inak, G., Zakin, S., Thevandavakkam, M., Petersilie, L., Zaliani, A., Mlody, B., Seibt, A., Donnelly, J., Woleben, K., Fernandez-Checa, J., Herebian, D., Mayatepek, E., Rajewsky, N., Spinazzola, A., Schuelke, M., Perlstein, E., Rossi, A., Distelmaier, F., Holt, I.J., Pless, O., Rose, C., Del Sol, A. and Prigione, A.
bioRxiv : 2024.07.08.602501. 12 July 2024

Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.
Bauersachs, D., Bomholtz, L., Del Ray Mateos, S., Kühn, R. and Lisowski, P.
Frontiers in Neuroscience 18 : 1426177. 6 June 2024

2023

Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-PolyQ sequence.
Miller, D.C., Lisowski, P., Genehr, C., Wanker, E.E., Priller, J., Prigione, A. and Diecke, S.
Stem Cell Research 68 : 103056. April 2023

Genome-engineering technologies for modeling and treatment of cystic fibrosis.
Dębczyński, M., Mojsak, D., Minarowski, Ł., Maciejewska, M., Mróz, R.M. and Lisowski, P.
Advances in Medical Sciences 68 (1): 111-120. March 2023

2022

Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
Sinha Ray, S., Dutta, D., Dennys, C., Powers, S., Roussel, F., Lisowski, P., Glažar, P., Zhang, X., Biswas, P., Caporale, J.R., Rajewsky, N., Bickle, M., Wein, N., Bellen, H.J., Likhite, S., Marcogliese, P.C. and Meyer, K.C.
Cell Reports 41 (10): 111751. 6 December 2022

Generation of induced pluripotent stem cells from three individuals with Huntington's disease.
Miller, D.C., Lisowski, P., Lickfett, S., Mlody, B., Bünning, M., Genehr, C., Ulrich, C., Wanker, E.E., Diecke, S., Priller, J. and Prigione, A.
Stem Cell Research 65 : 102976. December 2022

Deep-learning analysis of micropattern-based organoids enables high-throughput drug screening of Huntington's disease models.
Metzger, J.J., Pereda, C., Adhikari, A., Haremaki, T., Galgoczi, S., Siggia, E.D., Brivanlou, A.H. and Etoc, F.
Cell Reports Methods 2 (9): 100297. 19 September 2022

Deletion in the Y chromosome of B10.BR-Y(del) mice alters transcription from MSYq genes and has moderate effect on DNA methylation.
Kotarska, K., Doniec, A., Korostyński, M., Piechota, M., Gołas, A., Lisowski, P. and Styrna, J.
Reproductive Biology 22 (2): 100614. June 2022

2021

Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects.
Galgoczi, S., Ruzo, A., Markopoulos, C., Yoney, A., Phan-Everson, T., Li, S., Haremaki, T., Metzger, J.J., Etoc, F. and Brivanlou, A.H.
Development 148 (19): dev199513. October 2021

Depletion of aneuploid cells in human embryos and gastruloids.
Yang, M., Rito, T., Metzger, J., Naftaly, J., Soman, R., Hu, J., Albertini, D.F., Barad, D.H., Brivanlou, A.H. and Gleicher, N.
Nature Cell Biology 23 (4): 314-321. April 2021

Evaluation of aggression and fearfulness in domestic dog (Canis familiaris).
Dyjak, M., Boruta, A., Adamkiewicz, E., Walasek, A., Bury-Burzymski, P. and Lisowski, P.
Animal Science Papers and Reports 39 (4): 407-418. 2021

2019

Self-organizing neuruloids model developmental aspects of Huntington's disease in the ectodermal compartment.
Haremaki, T., Metzger, J.J., Rito, T., Ozair, M.Z., Etoc, F. and Brivanlou, A.H.
Nature Biotechnology 37 (10): 1198-1208. October 2019

A 3D model of a human epiblast reveals BMP4-driven symmetry breaking.
Simunovic, M., Metzger, J.J., Etoc, F., Yoney, A., Ruzo, A., Martyn, I., Croft, G., You, D.S., Brivanlou, A.H. and Siggia, E.D.
Nature Cell Biology 21 (7): 900-910. July 2019

2018

WNT signaling memory is required for ACTIVIN to function as a morphogen in human gastruloids.
Yoney, A., Etoc, F., Ruzo, A., Carroll, T., Metzger, J.J., Martyn, I., Li, S., Kirst, C., Siggia, E.D. and Brivanlou, A.H.
eLife 7 : e3827. 13 November 2018

Synthetic embryology: controlling geometry to model early mammalian development.
Metzger, J.J., Simunovic, M. and Brivanlou, A.H.
Current Opinion in Genetics & Development 52 : 86-91. October 2018

Micropattern differentiation of mouse pluripotent stem cells recapitulates embryo regionalized cell fate patterning.
Morgani, S.M., Metzger, J.J., Nichols, J., Siggia, E.D. and Hadjantonakis, A.K.
eLife 7 : e32839. 7 February 2018

Chromosomal instability during neurogenesis in Huntington's disease.
Ruzo, A., Croft, G.F., Metzger, J.J., Galgoczi, S., Gerber, L.J., Pellegrini, C., Wang, H., Fenner, M., Tse, S., Marks, A., Nchako, C. and Brivanlou, A.H.
Development 145 (2) January 2018

2017

A single trophectoderm biopsy at blastocyst stage is mathematically unable to determine embryo ploidy accurately enough for clinical use.
Gleicher, N., Metzger, J., Croft, G., Kushnir, V.A., Albertini, D.F. and Barad, D.H.
Reproductive Biology and Endocrinology 15 (1): 33. 27 April 2017

Channeling of branched flow in weakly scattering anisotropic media.
Degueldre, H., Metzger, J.J., Schultheis, E. and Fleischmann, R.
Physical Review Letters 118 (2): 024301. 13 January 2017

2016

A balance between secreted inhibitors and edge sensing controls gastruloid self-organization.
Etoc, F., Metzger, J., Ruzo, A., Kirst, C., Yoney, A., Ozair, M.Z., Brivanlou, A.H. and Siggia, E.D.
Developmental Cell 39 (3): 302-315. 7 November 2016

Self-organization of human embryonic stem cells on micropatterns.
Deglincerti, A., Etoc, F., Guerra, M.C., Martyn, I., Metzger, J., Ruzo, A., Simunovic, M., Yoney, A., Brivanlou, A.H., Siggia, E. and Warmflash, A.
Nature Protocols 11 (11): 2223-2232. November 2016

Non-equilibrium steady states of stochastic processes with intermittent resetting.
Eule, S. and Metzger, J.J.
New Journal of Physics 18 (3): 033006. March 2016

Random focusing of tsunami waves.
Degueldre, H., Metzger, J.J., Geisel, T. and Fleischmann, R.
Nature Physics 12 (3): 259-262. March 2016

2014

Statistics of extreme waves in random media.
Metzger, J.J., Fleischmann, R. and Geisel, T.
Physical Review Letters 112 (20): 203903. 23 May 2014

2013

Experimental observation of a fundamental length scale of waves in random media.
Barkhofen, S., Metzger, J.J., Fleischmann, R., Kuhl, U. and Stöckmann, H.J.
Physical Review Letters 111 (18): 183902. 1 November 2013

Distribution of the fittest individuals and the rate of Muller's ratchet in a model with overlapping generations.
Metzger, J.J. and Eule, S.
PLoS Computational Biology 9 (11): e1003303. November 2013

Intensity fluctuations of waves in random media: what is the semiclassical limit?
Metzger, J.J., Fleischmann, R. and Geisel, T.
Physical Review Letters 111 (1): 013901. 5 July 2013

2012

How branching can change the conductance of ballistic semiconductor devices.
Maryenko, D., Ospald, F., von Klitzing, K., Smet, J.H., Metzger, J.J., Fleischmann, R., Geisel, T. and Umansky, V.
Physical Review B 85 (19): 195329. 31 May 2012

Random caustics and intensity fluctuations in weakly disordered media.
Fleischmann, R., Metzger, J. and Geisel, T.
In: Frontiers in Optics 2012/Laser Science XXVIII, 14-18 Oct 2012, Rochester, NY, USA. 2012

2010

Universal statistics of branched flows.
Metzger, J.J., Fleischmann, R. and Geisel, T.
Physical Review Letters 105 (2): 020601. 9 July 2010