Recent Publications

INSM1 governs a neuronal progenitor state that drives glioblastoma in a human stem cell modelDeSouza, P. A., Ishahak, M., Qu, X., McCornack, C., Annamalai, D., Mao, D. D., Vangipurapu, R., Fu, Y., Vessoni, A. T., Cleary, R. T., Han, R. H., Augsornworawat, P., Woodiwiss, T., Agovino, D., Sizemore, B., Kline, J., Borhani-Haghighi, M., Chen, H., […]

Biophysical simulation enables segmentation and nervous system atlas mapping for image first spatial omicsAli, L. M., Yim, A. K. Y., Gerbi, E., Nguyen, T., Tu, N., Ikede, F., Sampaleanu, R., Grigore, D., Waligorski, J., Kremitzki, C., Yuan, L., Dong, W., Mitra, R., Milbrandt, J. & Buchser, W., Dec 2026, In: npj Systems Biology and Applications. […]

An integrated view of the structure and function of the human 4D nucleomeDekker, J., Oksuz, B. A., Zhang, Y., Wang, Y., Minsk, M. K., Kuang, S., Yang, L., Gibcus, J. H., Krietenstein, N., Rando, O. J., Xu, J., Janssens, D. H., Henikoff, S., Kukalev, A., Andréa, W., Winick-Ng, W., Kempfer, R., Pombo, A., Yu, M. […]

Unmasked: transposable elements as drivers and targets in cancerGrinwald, M. F., Saintilnord, W. N. & Wang, T., Jan 2026, In: Trends in Genetics. 42, 1, p. 30-45 16 p.Research output: Contribution to journal › Review article › peer-review

Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participantsNoordam, R., Wang, W., Nagarajan, P., Wang, H., Brown, M. R., Bentley, A. R., Hui, Q., Kraja, A. T., Morrison, J. L., O'Connel, J. R., Lee, S., Schwander, K., Bartz, T. M., de las Fuentes, L., Feitosa, M. F., Guo, X., Hanfei, X., Harris, S. […]

Chronic Oxaliplatin Treatment Induces CIPN in Mice via Activation of the TXNIP PathwayDu, J., Sudlow, L. C., Shahverdi, K., Zhou, H., Yuede, C. M., Crock, L. W., Hunter, D. A., Golden, J., Mollah, S. A., Wood, M. D. & Berezin, M. Y., Jan 2026, In: Molecular Neurobiology. 63, 1, 92.Research output: Contribution to journal › […]

Approaches for identification of 5′ UTR mutations impacting translation and protein production from neurodevelopmental disorder genesPlassmeyer, S. P., Florian, C. P., Chase, R., Kasper, M. J., Mueller, S., Liu, Y., McFarland White, K., Sierra-Cortez, L., Fischer, A. D., Jungers, C. F., Djuranovic, S. P., Djuranovic, S. & Dougherty, J. D., Dec 15 2025, In: Cell […]

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesKüry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T. C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, […]

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserUndiagnosed Diseases Network, Cooperstein, I. B., Marwaha, S., Ward, A., Kobren, S. N., Carter, J. N., Guo, Z., Berger, Z. D., Manabe, Y., Jiang, Y. H., Karasozen, Y., Huang, Y., Timp, W., Halstead, W., Craigen, W. J., Byrd, W. E., Gahl, W. […]

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individualsNHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2025, In: Genome biology. 26, 1, 273.Research output: Contribution to journal › Article › peer-review

Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assayKremitzki, C., Waligorski, J., Bachman, G., Ali, L. M., Bramley, J., Vakaki, M., Chandrasekaran, V., Patel, P., Mathur, D., Hime, P., Mitra, R., Milbrandt, J. & Buchser, W., Dec 2025, In: NPJ Imaging. 3, 1, 35.Research output: Contribution to journal › Article › […]

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsUndiagnosed Diseases Network, Dec 2025, In: Nature communications. 16, 1, 7267.Research output: Contribution to journal › Article › peer-review

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes9P-ARCH, Dec 2025, In: Genome medicine. 17, 1, 129.Research output: Contribution to journal › Article › peer-review

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural AnalysesThe Undiagnosed Diseases Network, Dec 2025, In: Molecular Genetics and Genomic Medicine. 13, 12, e70165.Research output: Contribution to journal › Article › peer-review

Plasma Phosphorylated Tau 217 to Identify Preclinical Alzheimer DiseaseSalvadó, G., Janelidze, S., Bali, D., Dolado, A. O., Therriault, J., Brum, W. S., Pichet Binette, A., Stomrud, E., Mattsson-Carlgren, N., Palmqvist, S., Coomans, E. M., Teunissen, C. E., Van Der Flier, W. M., Rahmouni, N., Benzinger, T. L. S., Gispert, J. D., Blennow, K., Doré, V., […]

TDP-43 loss induces cryptic polyadenylation in ALS/FTDNYGC ALS Consortium, Nov 2025, In: Nature neuroscience. 28, 11, p. 2190-2200 11 p.Research output: Contribution to journal › Article › peer-review

ATG-3 limits Orsay virus infection in C. elegans and regulates collagen pathwaysKalugotla, G., Marmerstein, V., Schriefer, L. A., Wang, L., Morrison, S. A., Perez, L. C., Silverman, G. A., Schedl, T., Pak, S. C. & Baldridge, M. T., Nov 2025, In: PLoS pathogens. 21, 11 NOVEMBER, e1012900.Research output: Contribution to journal › Article › peer-review

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersUndiagnosed Diseases Network, Oct 10 2025, In: EMBO Molecular Medicine. 17, 10, p. 2562-2585 24 p.Research output: Contribution to journal › Article › peer-review

Microglial ADGRG1: AD glial resilience generatorBarclay, K. M. & Li, Q., Oct 1 2025, In: Neuron. 113, 19, p. 3070-3072 3 p.Research output: Contribution to journal › Comment/debate

Polygenic prediction of body mass index and obesity through the life course and across ancestries23andMe Research Team, DiscovEHR (DiscovEHR and MyCode Community Health Initiative), eMERGE (Electronic Medical Records and Genomics Network), GPC-UGR, The PRACTICAL Consortium, Understanding Society Scientific group, VA Million Veteran Program, Smit, R. A. J., Wade, K. H., Hui, Q., Arias, J. D., […]