Department of Genetics

Research output

Research output per year 1978 2007 2009 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2023

• 2172 Article
• 125 Review article
• 81 Comment/debate
• 41 Chapter
• 73 More
  • 20 Letter
  • 18 Conference contribution
  • 17 Editorial
  • 11 Short survey
  • 3 Foreword/postscript
  • 2 Book
  • 2 Conference article

Research output per year

Research output per year

Search results

• 2023

  Widespread contribution of transposable elements to the rewiring of mammalian 3D genomes

  Choudhary, M. N. K., Quaid, K., Xing, X., Schmidt, H. & Wang, T., Dec 2023, In: Nature communications. 14, 1, 634.

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

  Open Access

  • genome 100%
  • DNA Transposable Elements 98%
  • chromatin 59%
  • Genome 52%
  • gene expression 41%
  7 Scopus citations

• Zinc cluster transcription factors frequently activate target genes using a non-canonical half-site binding mode

  Recio, P. S., Mitra, N. J., Shively, C. A., Song, D., Jaramillo, G., Lewis, K. S., Chen, X. & Mitra, R. D., Jun 9 2023, In: Nucleic acids research. 51, 10, p. 5006-5021 16 p.

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

  Open Access

  • Zinc 100%
  • Binding Sites 80%
  • Transcription Factors 78%
  • Thermodynamics 42%
  • Genes 41%
• 2022

  Activation domains can decouple the mean and noise of gene expression

  Loell, K., Wu, Y., Staller, M. & Cohen, B., Jul 19 2022, In: Cell Reports. 40, 3, 111118.

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

  Open Access

  • Noise 100%
  • Strength 68%
  • Resistance 68%
  • Gene Expression 65%
  • Synthetic Biology 25%

• Activity-dependent translation dynamically alters the proteome of the perisynaptic astrocyte process

  Sapkota, D., Kater, M. S. J., Sakers, K., Nygaard, K. R., Liu, Y., Koester, S. K., Fass, S. B., Lake, A. M., Khazanchi, R., Khankan, R. R., Krawczyk, M. C., Smit, A. B., Maloney, S. E., Verheijen, M. H. G., Zhang, Y. & Dougherty, J. D., Oct 18 2022, In: Cell Reports. 41, 3, 111474.

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

  Open Access

  • Proteome 100%
  • Astrocytes 88%
  • Protein 39%
  • Neurons 14%
  • Eukaryotic Cells 12%
  6 Scopus citations

• A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

  Undiagnosed Diseases Network, Feb 8 2022, In: Proceedings of the National Academy of Sciences of the United States of America. 119, 6, e2105228119.

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

  Open Access

  • IgA receptor 100%
  • Protein C 85%
  • Surface-Active Agents 79%
  • Surfactant Dysfunction 65%
  • Endosomes 63%
  5 Scopus citations

• A genome-wide CRISPR-Cas9 knockout screen identifies essential and growth-restricting genes in human trophoblast stem cells

  Dong, C., Fu, S., Karvas, R. M., Chew, B., Fischer, L. A., Xing, X., Harrison, J. K., Popli, P., Kommagani, R., Wang, T., Zhang, B. & Theunissen, T. W., Dec 2022, In: Nature communications. 13, 1, 2548.

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

  Open Access

  • stem cells 100%
  • genome 94%
  • genes 84%
  • Clustered Regularly Interspaced Short Palindromic Repeats 83%
  • Trophoblasts 79%
  12 Scopus citations

• A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

  Million Veterans Program, Global Lipids Genetics Consortium, Locke, A. E., Wojczynski, M. K., Sung, Y. J., Rao, D. C. & Province, M. A., Aug 4 2022, In: American journal of human genetics. 109, 8, p. 1366-1387 22 p.

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

  Open Access

  • Genetic Variation 100%
  • Lipids 67%
  • Genome-Wide Association Study 46%
  • Chromatin 26%
  • Datasets 23%
  7 Scopus citations

• Ancestry adjustment improves genome-wide estimates of regional intolerance

  Hayeck, T. J., Stong, N., Baugh, E., Dhindsa, R., Turner, T. N., Malakar, A., Mosbruger, T. L., Shaw, G. T. W., Duan, Y., Ionita-Laza, I., Goldstein, D. & Allen, A. S., May 31 2022, In: Genetics. 221, 2

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

  Open Access

  • Genome 100%
  • Mutation 82%
  • Population 57%

• A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication

  Shackleford, G. G., Marziali, L. N., Sasaki, Y., Claessens, A., Ferri, C., Weinstock, N. I., Rossor, A. M., Silvestri, N. J., Wilson, E. R., Hurley, E., Kidd, G. J., Manohar, S., Ding, D., Salvi, R. J., Laura Feltri, M., D’Antonio, M. & Wrabetz, L., Nov 9 2022, In: PLoS genetics. 18, 11, e1010477.

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

  Open Access

  • peripheral nervous system diseases 100%
  • myelin sheath 82%
  • neuroglia 77%
  • Myelin Sheath 73%
  • animal communication 64%
  2 Scopus citations

• Anniversary reflections: Inspiring discoveries and the future of the field

  Lancaster, M., Morris, S. A., Takebe, T., Qian, L., Gao, S. & Huch, M., Jun 2 2022, In: Cell Stem Cell. 29, 6, p. 879-881 3 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Anniversaries and Special Events 100%
  • Stem Cells 57%
  • Ocular Vision 32%
  1 Scopus citations

• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Undiagnosed Diseases Network, Jul 2022, In: Genetics in Medicine. 24, 7, p. 1567-1582 16 p.

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

  Open Access

  • diphthamide 100%
  • Neurodevelopmental Disorders 61%
  • Adenosine 34%
  • Computer Simulation 33%
  • Yeasts 28%
  1 Scopus citations

• A phytobacterial TIR domain effector manipulates NAD⁺ to promote virulence

  Eastman, S., Smith, T., Zaydman, M. A., Kim, P., Martinez, S., Damaraju, N., DiAntonio, A., Milbrandt, J., Clemente, T. E., Alfano, J. R. & Guo, M., Jan 2022, In: New Phytologist. 233, 2, p. 890-904 15 p.

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

  Open Access

  • Interleukin-1 Receptors 100%
  • interleukin-1 99%
  • NAD (coenzyme) 89%
  • NAD 86%
  • Virulence 73%
  32 Scopus citations

• A Proposed Role for Interactions between Argonautes, miRISC, and RNA Binding Proteins in the Regulation of Local Translation in Neurons and Glia

  Koester, S. K. & Dougherty, J. D., Apr 20 2022, In: Journal of Neuroscience. 42, 16, p. 3291-3301 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • RNA-Binding Proteins 100%
  • Neuroglia 76%
  • MicroRNAs 72%
  • Neurons 53%
  • Argonaute Proteins 22%
  2 Scopus citations

• Aqp4 stop codon readthrough facilitates amyloid-β clearance from the brain

  Sapkota, D., Florian, C., Doherty, B. M., White, K. M., Reardon, K. M., Ge, X., Garbow, J., Yuede, C. M., Cirrito, J. R. & Dougherty, J., Sep 1 2022, In: Brain. 145, 9, p. 2982-2990 9 p.

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

  Open Access

  • Terminator Codon 100%
  • Aquaporin 4 99%
  • Amyloid 79%
  • Brain 41%
  • Alzheimer Disease 24%
  10 Scopus citations

• A quantitative metric of pioneer activity reveals that HNF4A has stronger in vivo pioneer activity than FOXA1

  Hansen, J. L. & Cohen, B. A., Dec 2022, In: Genome biology. 23, 1, 221.

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

  Open Access

  • genomics 100%
  • genome 93%
  • quantitative analysis 93%
  • DNA 82%
  • transcription factors 77%
  5 Scopus citations

• A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model

  Sato-Yamada, Y., Strickland, A., Sasaki, Y., Bloom, J., DiAntonio, A. & Milbrandt, J., Dec 1 2022, In: Journal of Clinical Investigation. 132, 23, e161566.

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

  Open Access

  • Type 2A Charcot-Marie-Tooth disease 100%
  • Interleukin-1 Receptors 59%
  • Mitochondria 23%
  • Pathology 13%
  • Mutation 12%
  8 Scopus citations

• A saturated map of common genetic variants associated with human height

  23andMe Research Team, VA Million Veteran Program, DiscovEHR (DiscovEHR and MyCode Community Health Initiative), eMERGE (Electronic Medical Records and Genomics Network), Lifelines Cohort Study, The PRACTICAL Consortium & Understanding Society Scientific group, Oct 27 2022, In: Nature. 610, 7933, p. 704-712 9 p.

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

  Open Access

  • Single Nucleotide Polymorphism 100%
  • HapMap Project 28%
  • Genome 26%
  • Population Biological Variation 24%
  • Genes 23%
  88 Scopus citations

• Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

  TOPMed Anthropometry Working Group & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Mar 2022, In: Nature Genetics. 54, 3, p. 263-273 11 p.

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

  • Multifactorial Inheritance 100%
  • Linkage Disequilibrium 92%
  • Single Nucleotide Polymorphism 67%
  • Body Mass Index 58%
  • Genome 54%
  82 Scopus citations

• Association of leukocyte telomere length with perceived physical fatigability

  on behalf of the LLFS Research Group, Dec 2022, In: Experimental Gerontology. 170, 111988.

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

  Open Access

  • Telomere 100%
  • Leukocytes 71%
  • Length 53%
  • Marker 11%
  • Indicator 11%
  2 Scopus citations

• Author Correction: Comparative and demographic analysis of orang-utan genomes (Nature, (2011), 469, 7331, (529-533), 10.1038/nature09687)

  Locke, D. P., Hillier, L. D. W., Warren, W. C., Worley, K. C., Nazareth, L. V., Muzny, D. M., Yang, S. P., Wang, Z., Chinwalla, A. T., Minx, P., Mitreva, M., Cook, L., Delehaunty, K. D., Fronick, C., Schmidt, H., Fulton, L. A., Fulton, R. S., Nelson, J. O., Magrini, V., Pohl, C., & 81 othersGraves, T. A., Markovic, C., Cree, A., Dinh, H. H., Hume, J., Kovar, C. L., Fowler, G. R., Lunter, G., Meader, S., Heger, A., Ponting, C. P., Marques-Bonet, T., Alkan, C., Chen, L., Cheng, Z., Kidd, J. M., Eichler, E. E., White, S., Searle, S., Vilella, A. J., Chen, Y., Flicek, P., Ma, J., Raney, B., Suh, B., Burhans, R., Herrero, J., Haussler, D., Faria, R., Fernando, O., Darré, F., Farré, D., Gazave, E., Oliva, M., Navarro, A., Roberto, R., Capozzi, O., Archidiacono, N., Della Valle, G., Purgato, S., Rocchi, M., Konkel, M. K., Walker, J. A., Ullmer, B., Batzer, M. A., Smit, A. F. A., Hubley, R., Casola, C., Schrider, D. R., Hahn, M. W., Quesada, V., Puente, X. S., Ordoñez, G. R., López-Otín, C., Vinar, T., Brejova, B., Ratan, A., Harris, R. S., Miller, W., Kosiol, C., Lawson, H. A., Taliwal, V., Martins, A. L., Siepel, A., RoyChoudhury, A., Ma, X., Degenhardt, J., Bustamante, C. D., Gutenkunst, R. N., Mailund, T., Dutheil, J. Y., Hobolth, A., Schierup, M. H., Ryder, O. A., Yoshinaga, Y., de Jong, P. J., Weinstock, G. M., Rogers, J., Mardis, E. R., Gibbs, R. A. & Wilson, R. K., Aug 25 2022, In: Nature. 608, 7924, p. E36

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Genome 100%
  • Demography 95%
  • Single Nucleotide Polymorphism 82%
  • Publications 81%
  • Names 46%

• Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

  Zech, M., Kumar, K. R., Reining, S., Reunert, J., Tchan, M., Riley, L. G., Drew, A. P., Adam, R. J., Berutti, R., Biskup, S., Derive, N., Bakhtiari, S., Jin, S. C., Kruer, M. C., Bardakjian, T., Gonzalez-Alegre, P., Keller Sarmiento, I. J., Mencacci, N. E., Lubbe, S. J., Kurian, M. A., & 9 othersClot, F., Méneret, A., de Sainte Agathe, J. M., Fung, V. S. C., Vidailhet, M., Baumann, M., Marquardt, T., Winkelmann, J. & Boesch, S., Jan 2022, In: Movement Disorders. 37, 1, p. 137-147 11 p.

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

  Open Access

  • Dystonia 100%
  • Extremities 62%
  • Aminopeptidases 19%
  • Catalogs 17%
  • Exome 17%
  10 Scopus citations

• Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

  Calame, D. G., Herman, I., Maroofian, R., Marshall, A. E., Donis, K. C., Fatih, J. M., Mitani, T., Du, H., Grochowski, C. M., Sousa, S. B., Gijavanekar, C., Bakhtiari, S., Ito, Y. A., Rocca, C., Hunter, J. V., Sutton, V. R., Emrick, L. T., Boycott, K. M., Lossos, A., Fellig, Y., & 45 othersPrus, E., Kalish, Y., Meiner, V., Suerink, M., Ruivenkamp, C., Muirhead, K., Saadi, N. W., Zaki, M. S., Bouman, A., Barakat, T. S., Skidmore, D. L., Osmond, M., Silva, T. O., Murphy, D., Karimiani, E. G., Jamshidi, Y., Jaddoa, A. G., Tajsharghi, H., Jin, S. C., Abbaszadegan, M. R., Ebrahimzadeh-Vesal, R., Hosseini, S., Alavi, S., Bahreini, A., Zarean, E., Salehi, M. M., Al-Sannaa, N. A., Zifarelli, G., Bauer, P., Robson, S. C., Coban-Akdemir, Z., Travaglini, L., Nicita, F., Jhangiani, S. N., Gibbs, R. A., Posey, J. E., Kruer, M. C., Kernohan, K. D., Morales Saute, J. A., Houlden, H., Vanderver, A., Elsea, S. H., Pehlivan, D., Marafi, D. & Lupski, J. R., Aug 2022, In: Annals of neurology. 92, 2, p. 304-321 18 p.

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

  • ectoATPase 100%
  • Neurodevelopmental Disorders 80%
  • Paraplegia 79%
  • Intellectual Disability 64%
  • White Matter 62%

• Blocking CHOP-dependent TXNIP shuttling to mitochondria attenuates albuminuria and mitigates kidney injury in nephrotic syndrome

  Park, S. J., Kim, Y., Li, C., Suh, J., Sivapackiam, J., Goncalves, T. M., Jarad, G., Zhao, G., Urano, F., Sharma, V. & Chen, Y. M., Aug 30 2022, In: Proceedings of the National Academy of Sciences of the United States of America. 119, 35, e2116505119.

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

  Open Access

  • Transcription Factor CHOP 100%
  • Albuminuria 80%
  • Nephrotic Syndrome 76%
  • Mitochondria 56%
  • Reactive Oxygen Species 43%
  7 Scopus citations

• Brain ventricles as windows into brain development and disease

  Duy, P. Q., Rakic, P., Alper, S. L., Butler, W. E., Walsh, C. A., Sestan, N., Geschwind, D. H., Jin, S. C. & Kahle, K. T., Jan 5 2022, In: Neuron. 110, 1, p. 12-15 4 p.

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

  Open Access

  • Hydrocephalus 100%
  • Brain Diseases 90%
  • Brain 46%
  • Neural Stem Cells 35%
  • Human Development 34%
  15 Scopus citations

• Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

  Dougherty, J., Marrus, N., Maloney, S. E., Yip, B., Sandin, S., Turner, T., Selmanovic, D., Kroll, K. L., Gutmann, D. H., Constantino, J. & Weiss, L. A., Oct 19 2022, In: Neuron. 110, 20, p. 3243-3262 20 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Autism Spectrum Disorder 100%
  • Sex Characteristics 90%
  • Sex Ratio 36%
  • Penetrance 18%
  • Recurrence 9%
  10 Scopus citations

• Capybara: A computational tool to measure cell identity and fate transitions

  Kong, W., Fu, Y. C., Holloway, E. M., Garipler, G., Yang, X., Mazzoni, E. O. & Morris, S. A., Apr 7 2022, In: Cell Stem Cell. 29, 4, p. 635-649.e11

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

  Open Access

  • Rodentia 100%
  • Cell Engineering 53%
  • Hybrid Cells 48%
  • Endoderm 25%
  • Motor Neurons 19%
  13 Scopus citations

• Ciliary central apparatus structure reveals mechanisms of microtubule patterning

  Gui, M., Wang, X., Dutcher, S. K., Brown, A. & Zhang, R., May 2022, In: Nature Structural and Molecular Biology. 29, 5, p. 483-492 10 p.

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

  • Microtubules 100%
  • Ciliopathies 38%
  • Axoneme 37%
  • Proteins 37%
  • Microtubule Proteins 35%
  16 Scopus citations

• Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

  Undiagnosed Disease Network, Feb 2022, In: Journal of Genetic Counseling. 31, 1, p. 59-70 12 p.

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

  • Empowerment 100%
  • Genome 55%
  • Delivery of Health Care 49%
  • Emotions 21%
  • Parents 20%
  2 Scopus citations

• Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

  Wang, Y. C., Wu, Y., Choi, J., Allington, G., Zhao, S., Khanfar, M., Yang, K., Fu, P. Y., Wrubel, M., Yu, X., Mekbib, K. Y., Ocken, J., Smith, H., Shohfi, J., Kahle, K. T., Lu, Q. & Jin, S. C., Feb 2022, In: Journal of Personalized Medicine. 12, 2, 175.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Precision Medicine 100%
  • Genomics 93%
  • Genetic Therapy 85%
  • Research Personnel 64%
  • Human Genetics 56%
  4 Scopus citations

• Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients

  Bloom, A. J., Mao, X., Strickland, A., Sasaki, Y., Milbrandt, J. & DiAntonio, A., Dec 2022, In: Molecular neurodegeneration. 17, 1, 1.

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

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Alleles 45%
  • Neurons 38%
  • Axons 27%
  • NAD+ Nucleosidase 26%
  32 Scopus citations

• Corrigendum: Spec-seq: Determining protein-DNA-binding specificity by sequencing (Briefings in Functional Genomics DOI: 10.1093/bfgp/elu043)

  Zuo, Z., Chang, Y. K. & Stormo, G. D., Mar 1 2022, In: Briefings in Functional Genomics. 21, 2, p. 142 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • DNA-Binding Proteins 100%
  • Genomics 90%
  • Workflow 49%

• CUT&Tag2for1: a modified method for simultaneous profiling of the accessible and silenced regulome in single cells

  Janssens, D. H., Otto, D. J., Meers, M. P., Setty, M., Ahmad, K. & Henikoff, S., Dec 2022, In: Genome biology. 23, 1, 81.

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

  Open Access

  • antibody 100%
  • antibodies 62%
  • cleavage 62%
  • Antibodies 52%
  • Phosphoserine 45%
  13 Scopus citations

• Cyclic ADP ribose isomers: Production, chemical structures, and immune signaling

  Manik, M. K., Shi, Y., Li, S., Zaydman, M. A., Damaraju, N., Eastman, S., Smith, T. G., Gu, W., Masic, V., Mosaiab, T., Weagley, J. S., Hancock, S. J., Vasquez, E., Hartley-Tassell, L., Kargios, N., Maruta, N., Lim, B. Y. J., Burdett, H., Landsberg, M. J., Schembri, M. A., & 9 othersProkes, I., Song, L., Grant, M., DiAntonio, A., Nanson, J. D., Guo, M., Milbrandt, J., Ve, T. & Kobe, B., Sep 30 2022, In: Science. 377, 6614, eadc8969.

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

  Open Access

  • Cyclic ADP-Ribose 100%
  • Interleukin-1 Receptors 45%
  • NAD 26%
  • Plant Immunity 22%
  • Cyclization 19%
  36 Scopus citations

• Defining hierarchical protein interaction networks from spectral analysis of bacterial proteomes

  Zaydman, M. A., Little, A. S., Haro, F., Aksianiuk, V., Buchser, W. J., Diantonio, A., Gordon, J. I., Milbrandt, J. & Raman, A. S., 2022, In: eLife. 11, e74104.

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

  Open Access

  • Protein Interaction Maps 100%
  • Proteome 83%
  • Bacteria 54%
  • Phenotype 48%
  • Pseudomonas aeruginosa 37%
  1 Scopus citations

• de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

  Ng, J. K., Vats, P., Fritz-Waters, E., Sarkar, S., Sams, E. I., Padhi, E. M., Payne, Z. L., Leonard, S., West, M. A., Prince, C., Trani, L., Jansen, M., Vacek, G., Samadi, M., Harkins, T. T., Pohl, C. & Turner, T. N., Dec 2022, In: Human mutation. 43, 12, p. 1979-1993 15 p.

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

  Open Access

  • Workflow 100%
  • B-Cell Lymphoma 94%
  • Genome 92%
  • Mutation 76%
  • Motivation 73%
  2 Scopus citations

• Developmental Pathways Are Epigenetically Reprogrammed during Lung Cancer Brain Metastasis

  Karlow, J. A., Devarakonda, S., Xing, X., Jang, H. S., Govindan, R., Watson, M. & Wang, T., Aug 1 2022, In: Cancer research. 82, 15, p. 2692-2703 12 p.

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

  Open Access

  • DNA Methylation 100%
  • Brain Neoplasms 94%
  • Lung Neoplasms 80%
  • Methylation 73%
  • Non-Small Cell Lung Carcinoma 72%
  4 Scopus citations

• Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

  Lifelines Cohort Study, DiscovEHR/MyCode study, VA Million Veteran Program, Wojczynski, M. K. & Province, M. A., Dec 1 2022, In: Communications Biology. 5, 1, 580.

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

  Open Access

  • diabetes mellitus 100%
  • renal function 92%
  • Filtration 66%
  • Diabetes Mellitus 61%
  • Creatinine 46%
  10 Scopus citations

• Directed mutational scanning reveals a balance between acidic and hydrophobic residues in strong human activation domains

  Staller, M., Ramirez, E., Kotha, S. R., Holehouse, A. S., Pappu, R. V. & Cohen, B. A., Apr 20 2022, In: Cell Systems. 13, 4, p. 334-345.e5

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

  Open Access

  • Leucine 100%
  • Peer Review 60%
  • Proteome 50%
  • Cell Culture Techniques 37%
  • Transcription Factors 36%
  24 Scopus citations

• Disentangling glial diversity in peripheral nerves at single-nuclei resolution

  Yim, A. K. Y., Wang, P. L., Bermingham, J., Hackett, A., Strickland, A., Miller, T., Ly, C., Mitra, R. D. & Milbrandt, J., Feb 2022, In: Nature neuroscience. 25, 2, p. 238-251 14 p.

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

  • Peripheral Nerves 100%
  • Neuroglia 90%
  • Schwann Cells 76%
  • Amyotrophic Lateral Sclerosis 36%
  • RNA Sequence Analysis 19%
  19 Scopus citations

• Distinct developmental and degenerative functions of SARM1 require NAD⁺ hydrolase activity

  Brace, E. J., Essuman, K., Mao, X., Palucki, J., Sasaki, Y., Milbrandt, J. & DiAntonio, A., Jun 23 2022, In: PLoS genetics. 18, 6, e1010246.

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

  Open Access

  • Hydrolases 100%
  • NAD+ Nucleosidase 94%
  • NAD 86%
  • hydrolases 83%
  • hydrolysis 61%
  6 Scopus citations

• Distinguishing Tumor Admixed in a Radiation Necrosis (RN) Background: ¹H and ²H MR With a Novel Mouse Brain-Tumor/RN Model

  Ge, X., Song, K. H., Engelbach, J. A., Yuan, L., Gao, F., Dahiya, S., Rich, K. M., Ackerman, J. J. H. & Garbow, J. R., May 30 2022, In: Frontiers in Oncology. 12, 885480.

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

  Open Access

  • Background Radiation 100%
  • Brain Neoplasms 64%
  • Necrosis 53%
  • Radiation 52%
  • Magnetic Resonance Spectroscopy 26%
  6 Scopus citations

• Endocannabinoid dysfunction in neurological disease: Neuro-ocular DAGLA-related syndrome

  Undiagnosed Disease Network, Oct 1 2022, In: Brain. 145, 10, p. 3383-3390 8 p.

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

  Open Access

  • Endocannabinoids 100%
  • Ataxia 86%
  • Exons 68%
  • Haploinsufficiency 52%
  • Eye 50%
  2 Scopus citations

• Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information

  Maihofer, A. X., Choi, K. W., Coleman, J. R. I., Daskalakis, N. P., Denckla, C. A., Ketema, E., Morey, R. A., Polimanti, R., Ratanatharathorn, A., Torres, K., Wingo, A. P., Zai, C. C., Aiello, A. E., Almli, L. M., Amstadter, A. B., Andersen, S. B., Andreassen, O. A., Arbisi, P. A., Ashley-Koch, A. E., Austin, S. B., & 161 othersAvdibegović, E., Borglum, A. D., Babić, D., Bækvad-Hansen, M., Baker, D. G., Beckham, J. C., Bierut, L. J., Bisson, J. I., Boks, M. P., Bolger, E. A., Bradley, B., Brashear, M., Breen, G., Bryant, R. A., Bustamante, A. C., Bybjerg-Grauholm, J., Calabrese, J. R., Caldas-de-Almeida, J. M., Chen, C. Y., Dale, A. M., Dalvie, S., Deckert, J., Delahanty, D. L., Dennis, M. F., Disner, S. G., Domschke, K., Duncan, L. E., Džubur Kulenović, A., Erbes, C. R., Evans, A., Farrer, L. A., Feeny, N. C., Flory, J. D., Forbes, D., Franz, C. E., Galea, S., Garrett, M. E., Gautam, A., Gelaye, B., Gelernter, J., Geuze, E., Gillespie, C. F., Goçi, A., Gordon, S. D., Guffanti, G., Hammamieh, R., Hauser, M. A., Heath, A. C., Hemmings, S. M. J., Hougaard, D. M., Jakovljević, M., Jett, M., Johnson, E. O., Jones, I., Jovanovic, T., Qin, X. J., Karstoft, K. I., Kaufman, M. L., Kessler, R. C., Khan, A., Kimbrel, N. A., King, A. P., Koen, N., Kranzler, H. R., Kremen, W. S., Lawford, B. R., Lebois, L. A. M., Lewis, C., Liberzon, I., Linnstaedt, S. D., Logue, M. W., Lori, A., Lugonja, B., Luykx, J. J., Lyons, M. J., Maples-Keller, J. L., Marmar, C., Martin, N. G., Maurer, D., Mavissakalian, M. R., McFarlane, A., McGlinchey, R. E., McLaughlin, K. A., McLean, S. A., Mehta, D., Mellor, R., Michopoulos, V., Milberg, W., Miller, M. W., Morris, C. P., Mors, O., Mortensen, P. B., Nelson, E. C., Nordentoft, M., Norman, S. B., O'Donnell, M., Orcutt, H. K., Panizzon, M. S., Peters, E. S., Peterson, A. L., Peverill, M., Pietrzak, R. H., Polusny, M. A., Rice, J. P., Risbrough, V. B., Roberts, A. L., Rothbaum, A. O., Rothbaum, B. O., Roy-Byrne, P., Ruggiero, K. J., Rung, A., Rutten, B. P. F., Saccone, N. L., Sanchez, S. E., Schijven, D., Seedat, S., Seligowski, A. V., Seng, J. S., Sheerin, C. M., Silove, D., Smith, A. K., Smoller, J. W., Sponheim, S. R., Stein, D. J., Stevens, J. S., Teicher, M. H., Thompson, W. K., Trapido, E., Uddin, M., Ursano, R. J., van den Heuvel, L. L., Van Hooff, M., Vermetten, E., Vinkers, C. H., Voisey, J., Wang, Y., Wang, Z., Werge, T., Williams, M. A., Williamson, D. E., Winternitz, S., Wolf, C., Wolf, E. J., Yehuda, R., Young, K. A., Young, R. M. D., Zhao, H., Zoellner, L. A., Haas, M., Lasseter, H., Provost, A. C., Salem, R. M., Sebat, J., Shaffer, R. A., Wu, T., Ripke, S., Daly, M. J., Ressler, K. J., Koenen, K. C., Stein, M. B. & Nievergelt, C. M., Apr 1 2022, In: Biological Psychiatry. 91, 7, p. 626-636 11 p.

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

  Open Access

  • Post-Traumatic Stress Disorders 100%
  • Phenotype 61%
  • Genome-Wide Association Study 49%
  • Wounds and Injuries 49%
  • Veterans 14%
  12 Scopus citations

• Enzymatic transfer of acetate on histones from lysine reservoir sites to lysine activating sites

  Mendoza, M., Egervari, G., Sidoli, S., Donahue, G., Alexander, D. C., Sen, P., Garcia, B. A. & Berger, S. L., Jan 2022, In: Science Advances. 8, 3, eabj5688.

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

  Open Access

  • Acetates 100%
  • Lysine 98%
  • Histones 94%
  • Acetate-CoA Ligase 85%
  • Acetylation 79%
  17 Scopus citations

• Epigenomic analysis reveals prevalent contribution of transposable elements to cis-regulatory elements, tissue-specific expression, and alternative promoters in zebrafish

  Lee, H. J., Hou, Y., Maeng, J. H., Shah, N. M., Chen, Y., Lawson, H. A., Yang, H., Yue, F. & Wang, T., Jul 2022, In: Genome research. 32, 8, p. 1424-1436 13 p.

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

  Open Access

  • DNA Transposable Elements 100%
  • Zebrafish 79%
  • Epigenomics 67%
  • Gene Expression Regulation 9%
  • Protein Isoforms 6%
  2 Scopus citations

• Exploring genomic data coupled with 3D chromatin structures using the WashU Epigenome Browser

  Li, D., Harrison, J. K., Purushotham, D. & Wang, T., Aug 2022, In: Nature Methods. 19, 8, p. 909-910 2 p.

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

  Open Access
  4 Scopus citations

• Fluoxetine exposure throughout neurodevelopment differentially influences basilar dendritic morphology in the motor and prefrontal cortices

  Maloney, S. E., Tabachnick, D. R., Jakes, C., Avdagic, S., Bauernfeind, A. L. & Dougherty, J. D., Dec 2022, In: Scientific reports. 12, 1, 7605.

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

  Open Access

  • Fluoxetine 100%
  • Motor Cortex 87%
  • Prefrontal Cortex 78%
  • Social Behavior 66%
  • Neurons 35%
  1 Scopus citations

• From karyotypes to precision genomics in 9p deletion and duplication syndromes

  Sams, E. I., Ng, J. K., Tate, V., Claire Hou, Y. C., Cao, Y., Antonacci-Fulton, L., Belhassan, K., Neidich, J., Mitra, R. D., Cole, F. S., Dickson, P., Milbrandt, J. & Turner, T. N., Jan 13 2022, In: Human Genetics and Genomics Advances. 3, 1, 100081.

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

  Open Access

  • Chromosome 9p Deletion Syndrome 100%
  • Karyotype 58%
  • Genomics 57%
  • Chromosome Inversion 30%
  • Ring Chromosomes 29%
  4 Scopus citations

• Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

  Undiagnosed Diseases Network, May 2022, In: Molecular genetics and metabolism. 136, 1, p. 65-73 9 p.

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

  Open Access

  • Microcephaly 100%
  • Developmental 99%
  • Refractory 85%
  • Seizures 63%
  • Protein 33%
  2 Scopus citations

• Functional characterization of enhancer activity during a long terminal repeat's evolution

  Du, A. Y., Zhuo, X., Sundaram, V., Jensen, N. O., Chaudhari, H. G., Saccone, N. L., Cohen, B. A. & Wang, T., Oct 2022, In: Genome research. 32, 10, p. 1840-1851 12 p.

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

  Open Access

  • DNA Transposable Elements 100%
  • Terminal Repeat Sequences 94%
  • Transcription Factor AP-1 43%
  • Genetic Drift 28%
  • Human Genome 20%