Black Family Stem Cell Institute

Research output

Research output per year 1976 2015 2016 2017 2018 2019 2020 2021 2022 2023

• 168484 Citations
• 193 h-index
• 1859 Article
• 230 Review article
• 108 Comment/debate
• 75 Chapter
• 125 More
  • 37 Letter
  • 36 Short survey
  • 35 Editorial
  • 7 Conference contribution
  • 4 Foreword/postscript
  • 2 Book
  • 2 Conference article
  • 2 Preprint

Research output per year

Research output per year

Search results

• 2023

  Adeno-associated virus mediated gene therapy for neuroprotection of retinal ganglion cells in glaucoma

  Starr, C. & Chen, B., May 2023, In: Vision Research. 206, 108196.

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

  • Dependovirus 100%
  • Retinal Ganglion Cells 92%
  • Neuroprotection 84%
  • Glaucoma 76%
  • Genetic Therapy 74%

• Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons

  Popova, D., Gameiro-Ros, I., Youssef, M. M., Zalamea, P., Morris, A. D., Prytkova, I., Jadali, A., Kwan, K. Y., Kamarajan, C., Salvatore, J. E., Xuei, X., Chorlian, D. B., Porjesz, B., Kuperman, S., Dick, D. M., Goate, A., Edenberg, H. J., Tischfield, J. A., Pang, Z. P., Slesinger, P. A., & 1 othersHart, R. P., Feb 2023, In: Molecular Psychiatry. 28, 2, p. 746-758 13 p.

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

  Open Access

  • Alcohols 100%
  • Neurons 82%
  • Ethanol 67%
  • Alcoholism 48%
  • Inwardly Rectifying Potassium Channels 36%

• An atlas of lamina-associated chromatin across twelve human cell types reveals an intermediate chromatin subtype

  Shah, P. P., Keough, K. C., Gjoni, K., Santini, G. T., Abdill, R. J., Wickramasinghe, N. M., Dundes, C. E., Karnay, A., Chen, A., Salomon, R. E. A., Walsh, P. J., Nguyen, S. C., Whalen, S., Joyce, E. F., Loh, K. M., Dubois, N., Pollard, K. S. & Jain, R., Dec 2023, In: Genome Biology. 24, 1, 16.

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

  Open Access

  • topographic maps 100%
  • Atlases 88%
  • laminae (animals) 86%
  • chromatin 73%
  • Chromatin 72%
  1 Scopus citations

• An MDM2 degrader for treatment of acute leukemias

  Marcellino, B. K., Yang, X., Ümit Kaniskan, H., Brady, C., Chen, H., Chen, K., Qiu, X., Clementelli, C., Herschbein, L., Li, Z., Elghaity-Beckley, S., Arandela, J., Kelly, B., Hoffman, R., Liu, J., Xiong, Y., Jin, J. & Shih, A. H., Feb 2023, In: Leukemia. 37, 2, p. 370-378 9 p.

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

  • Leukemia 100%
  • venetoclax 97%
  • Proteolysis 86%
  • Acute Myeloid Leukemia 58%
  • Azacitidine 40%

• Association of Potentially Damaging de Novo Gene Variants with Neurologic Outcomes in Congenital Heart Disease

  Morton, S. U., Norris-Brilliant, A., Cunningham, S., King, E., Goldmuntz, E., Brueckner, M., Miller, T. A., Thomas, N. H., Liu, C., Adams, H. R., Bellinger, D. C., Cleveland, J., Cnota, J. F., Dale, A. M., Frommelt, M., Gelb, B. D., Grant, P. E., Goldberg, C. S., Huang, H., Kuperman, J. M., & 12 othersLi, J. S., McQuillen, P. S., Panigrahy, A., Porter, G. A., Roberts, A. E., Russell, M. W., Seidman, C. E., Tivarus, M. E., Anagnoustou, E., Hagler, D. J., Chung, W. K. & Newburger, J. W., 26 Jan 2023, In: JAMA network open. 6, 1, p. E2253191

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

  Open Access

  • Nervous System 100%
  • Heart Diseases 99%
  • Genes 49%
  • Short-Term Memory 28%
  • Chromatin 27%

• Bat pluripotent stem cells reveal unusual entanglement between host and viruses

  Déjosez, M., Marin, A., Hughes, G. M., Morales, A. E., Godoy-Parejo, C., Gray, J. L., Qin, Y., Singh, A. A., Xu, H., Juste, J., Ibáñez, C., White, K. M., Rosales, R., Francoeur, N. J., Sebra, R. P., Alcock, D., Volkert, T. L., Puechmaille, S. J., Pastusiak, A., Frost, S. D. W., & 5 othersHiller, M., Young, R. A., Teeling, E. C., García-Sastre, A. & Zwaka, T. P., 2 Mar 2023, In: Cell. 186, 5, p. 957-974.e28

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

  Open Access

  • Chiroptera 100%
  • Pluripotent Stem Cells 90%
  • Viruses 51%
  • Induced Pluripotent Stem Cells 23%
  • Echolocation 11%
  1 Scopus citations

• CDON contributes to Hedgehog-dependent patterning and growth of the developing limb

  Echevarría-Andino, M. L., Franks, N. E., Schrader, H. E., Hong, M., Krauss, R. S. & Allen, B. L., Jan 2023, In: Developmental Biology. 493, p. 1-11 11 p.

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

  • Extremities 100%
  • Growth 68%
  • Bone Development 24%
  • Embryonic Development 20%
  • Ligands 15%

• Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation

  Gibson, W. S., Rodriguez, O. L., Shields, K., Silver, C. A., Dorgham, A., Emery, M., Deikus, G., Sebra, R., Eichler, E. E., Bashir, A., Smith, M. L. & Watson, C. T., Feb 2023, In: Genes and Immunity. 24, 1, p. 21-31 11 p.

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

  • Immunoglobulin lambda-Chains 100%
  • Genetic Variation 56%
  • Immunoglobulins 51%
  • Nucleotides 31%
  • Population 22%

• Comorbidities in autism spectrum disorder and their etiologies

  Khachadourian, V., Mahjani, B., Sandin, S., Kolevzon, A., Buxbaum, J. D., Reichenberg, A. & Janecka, M., Dec 2023, In: Translational Psychiatry. 13, 1, 71.

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

  Open Access

  • Autism Spectrum Disorder 100%
  • Comorbidity 75%
  • Premature Birth 25%
  • Hypoxia 18%
  • Parturition 16%

• Detection of mosaic variants using genome sequencing in a large pediatric cohort

  Odgis, J. A., Gallagher, K. M., Rehman, A. U., Marathe, P. N., Bonini, K. E., Sebastin, M., Di Biase, M., Brown, K., Kelly, N. R., Ramos, M. A., Thomas-Wilson, A., Guha, S., Okur, V., Ganapathi, M., Elkhoury, L., Edelmann, L., Zinberg, R. E., Abul-Husn, N. S., Diaz, G. A., Greally, J. M., & 6 othersSuckiel, S. A., Jobanputra, V., Horowitz, C. R., Kenny, E. E., Wasserstein, M. P. & Gelb, B. D., Mar 2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 699-710 12 p.

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

  • Mosaicism 100%
  • Genome 55%
  • Pediatrics 52%
  • Inborn Genetic Diseases 30%
  • Genes 26%

• Effective treatment of low-risk acute GVHD with itacitinib monotherapy

  Etra, A., Capellini, A., Alousi, A., Al Malki, M. M., Choe, H., DeFilipp, Z., Hogan, W. J., Kitko, C. L., Ayuk, F., Baez, J., Gandhi, I., Kasikis, S., Gleich, S., Hexner, E., Hoepting, M., Kapoor, U., Kowalyk, S., Kwon, D., Langston, A., Mielcarek, M., & 10 othersMorales, G., Özbek, U., Qayed, M., Reshef, R., Rösler, W., Spyrou, N., Young, R., Chen, Y. B., Ferrara, J. L. M. & Levine, J. E., 2 Feb 2023, In: Blood. 141, 5, p. 481-489 9 p.

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

  • Adrenal Cortex Hormone 100%
  • Graft vs Host Disease 82%
  • Adrenal Cortex Hormones 52%
  • P 11 20%
  • Leukopenia 14%
  1 Scopus citations

• G9a/GLP inhibition during ex vivo lymphocyte expansion increases in vivo cytotoxicity of engineered T cells against hepatocellular carcinoma

  Lam, M. S. Y., Reales-Calderon, J. A., Ow, J. R., Aw, J. J. Y., Tan, D., Vijayakumar, R., Ceccarello, E., Tabaglio, T., Lim, Y. T., Chien, W. L., Lai, F., Tanoto, A. T., Chen, Q., Sobota, R. M., Adriani, G., Bertoletti, A., Guccione, E. & Pavesi, A., Dec 2023, In: Nature Communications. 14, 1, 563.

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

  Open Access

  • lymphocytes 100%
  • cancer 72%
  • Antitumor 71%
  • Hepatocellular Carcinoma 62%
  • Lymphocytes 53%

• Genetic nurture effects for alcohol use disorder

  COGA Collaborators, Feb 2023, In: Molecular Psychiatry. 28, 2, p. 759-766 8 p.

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

  • Alcoholism 100%
  • Alcohols 82%
  • Divorce 77%
  • Child 34%
  • Drinking 28%

• IGF1R Inhibition Enhances the Therapeutic Effects of Gq/11 Inhibition in Metastatic Uveal Melanoma Progression

  Lapadula, D., Lam, B., Terai, M., Sugase, T., Tanaka, R., Farias, E., Kadamb, R., Lopez-Anton, M., Heine, C. C., Modasia, B., Aguirre-Ghiso, J. A., Aplin, A. E., Sato, T. & Benovic, J. L., 3 Jan 2023, In: Molecular Cancer Therapeutics. 22, 1, p. 63-74 12 p.

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

  • Uveal melanoma 100%
  • Therapeutic Uses 62%
  • YM-254890 36%
  • 3-(8-amino-1-(2-phenylquinolin-7-yl)imidazo(1,5-a)pyrazin-3-yl)-1-methylcyclobutanol 35%
  • mouse insulin-like growth factor-1 17%

• Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

  the Developmental Synaptopathies Consortium, 12 Jan 2023, In: Human Genetics and Genomics Advances. 4, 1, 100145.

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

  Open Access

  • Telomeric 22q13 Monosomy Syndrome 100%
  • Metabolomics 61%
  • Mutation 31%
  • Natural Killer Cells 19%
  • Sphingolipids 17%

• Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae

  The Mount Sinai COVID-19 Biobank Team, Jan 2023, In: Nature Medicine. 29, 1, p. 236-246 11 p.

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

  Open Access

  • Coronavirus Infections 100%
  • Severe Acute Respiratory Syndrome 90%
  • Immunoglobulin Genes 88%
  • Transcriptome 64%
  • Molecular Cluster 45%

• Multi-Parametric Radiomic Model to Predict 1p/19q Co-Deletion in Patients with IDH-1 Mutant Glioma: Added Value to the T2-FLAIR Mismatch Sign

  Kihira, S., Derakhshani, A., Leung, M., Mahmoudi, K., Bauer, A., Zhang, H., Polson, J., Arnold, C., Tsankova, N. M., Hormigo, A., Salehi, B., Pham, N., Ellingson, B. M., Cloughesy, T. F. & Nael, K., Feb 2023, In: Cancers. 15, 4, 1037.

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

  Open Access

  • Glioma 100%
  • Sensitivity and Specificity 40%
  • Retrospective Studies 18%

• Network-based assessment of HDAC6 activity predicts preclinical and clinical responses to the HDAC6 inhibitor ricolinostat in breast cancer

  Zeleke, T. Z., Pan, Q., Chiuzan, C., Onishi, M., Li, Y., Tan, H., Alvarez, M. J., Honan, E., Yang, M., Chia, P. L., Mukhopadhyay, P., Kelly, S., Wu, R., Fenn, K., Trivedi, M. S., Accordino, M., Crew, K. D., Hershman, D. L., Maurer, M., Jones, S., & 6 othersHigh, A., Peng, J., Califano, A., Kalinsky, K., Yu, J. & Silva, J., Feb 2023, In: Nature Cancer. 4, 2, p. 257-275 19 p.

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

  • ricolinostat 100%
  • 130-nm albumin-bound paclitaxel 39%
  • Breast Neoplasms 32%
  • Histone Deacetylase Inhibitors 29%
  • Histone Deacetylases 29%
  1 Scopus citations

• NF2 mutations are associated with resistance to radiation therapy for grade 2 and grade 3 recurrent meningiomas

  Vasan, V., Dullea, J. T., Devarajan, A., Ali, M., Rutland, J. W., Gill, C. M., Kinoshita, Y., McBride, R. B., Gliedman, P., Bederson, J., Donovan, M., Sebra, R., Umphlett, M. & Shrivastava, R. K., Jan 2023, In: Journal of Neuro-Oncology. 161, 2, p. 309-316 8 p.

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

  • Meningioma 100%
  • Radiotherapy 63%
  • Mutation 51%
  • Recurrence 46%
  • Tissue Banks 16%

• Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease

  for the Dominantly Inherited Alzheimer Network, Feb 2023, In: Alzheimer's and Dementia. 19, 2, p. 632-645 14 p.

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

  Open Access

  • Neurologic Examination 100%
  • dementia 93%
  • Alzheimer Disease 71%
  • examination 53%
  • Atrophy 24%
  1 Scopus citations

• Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

  Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), EMTICS collaborative group & TS-EUROTRAIN Network, 23 Feb 2023, In: Translational Psychiatry. 13, 1, p. 69 1 p.

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

  Open Access

  • Tourette Syndrome 100%
  • Tics 19%
  • Obsessive-Compulsive Disorder 17%
  • Autism Spectrum Disorder 15%
  • Attention Deficit Disorder with Hyperactivity 15%

• Progenitor-derived endothelin controls dermal sheath contraction for hair follicle regression

  Martino, P., Sunkara, R., Heitman, N., Rangl, M., Brown, A., Saxena, N., Grisanti, L., Kohan, D., Yanagisawa, M. & Rendl, M., Feb 2023, In: Nature Cell Biology. 25, 2, p. 222-234 13 p.

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

  • Endothelins 100%
  • Hair Follicle 99%
  • Skin 47%
  • Smooth Muscle 30%
  • Endothelin Receptors 23%

• Proof-of-Concept Method to Study Uncharacterized Methyltransferases Using PRDM15

  Zhao, L. N., Guccione, E. & Kaldis, P., Jan 2023, In: International Journal of Molecular Sciences. 24, 2, 1327.

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

  Open Access

  • Methyltransferases 100%
  • Disorder 76%
  • Enzyme Activity 73%
  • Substrates 62%
  • Peptide 51%

• Pseudo-temporal dynamics of chemoresistant triple negative breast cancer cells reveal EGFR/HER2 inhibition as synthetic lethal during mid-neoadjuvant chemotherapy

  Song, W. M., Chia, P. L., Zhou, X., Walsh, M., Silva, J. & Zhang, B., 17 Feb 2023, In: iScience. 26, 2, 106064.

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

  Open Access

  • Triple Negative Breast Neoplasms 100%
  • Afatinib 50%
  • Drug Therapy 48%
  • Transcriptome 45%
  • Neoplasms 26%

• Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

  Giovenino, C., Trajkova, S., Pavinato, L., Cardaropoli, S., Pullano, V., Ferrero, E., Sukarova-Angelovska, E., Carestiato, S., Salmin, P., Rinninella, A., Battaglia, A., Bertoli, L., Fadda, A., Palermo, F., Carli, D., Mussa, A., Dimartino, P., Bruselles, A., Froukh, T., Mandrile, G., & 9 othersPasini, B., De Rubeis, S., Buxbaum, J. D., Pippucci, T., Tartaglia, M., Rossato, M., Delledonne, M., Ferrero, G. B. & Brusco, A., 2023, (Accepted/In press) In: European Journal of Human Genetics.

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

  • X Chromosome Inactivation 100%
  • X-Linked Genes 98%
  • Neurodevelopmental Disorders 56%
  • Exome 34%
  • X Chromosome 32%

• Somatic comorbidities of mental disorders in pregnancy

  Khachadourian, V., Kodesh, A., Levine, S. Z., Lin, E., Buxbaum, J. D., Bergink, V., Sandin, S., Reichenberg, A. & Janecka, M., 16 Jan 2023, In: European Psychiatry. 66, 1, e15.

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

  Open Access

  • Mental Disorders 100%
  • Comorbidity 96%
  • Pregnancy 74%
  • Mothers 39%
  • Mental Health 36%

• Splice-switch oligonucleotide-based combinatorial platform prioritizes synthetic lethal targets CHK1 and BRD4 against MYC-driven hepatocellular carcinoma

  Thng, D. K. H., Toh, T. B., Pigini, P., Hooi, L., Dan, Y. Y., Chow, P. K. H., Bonney, G. K., Rashid, M. B. M. A., Guccione, E., Wee, D. K. B. & Chow, E. K. H., Jan 2023, In: Bioengineering and Translational Medicine. 8, 1, e10363.

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

  Open Access

  • Oligonucleotides 100%
  • Oncogenic 94%
  • Deregulation 85%
  • Lethal 80%
  • Pipeline 77%

• The Breast Cancer Single-Cell Atlas: Defining cellular heterogeneity within model cell lines and primary tumors to inform disease subtype, stemness, and treatment options

  Dave, A., Charytonowicz, D., Francoeur, N. J., Beaumont, M., Beaumont, K., Schmidt, H., Zeleke, T., Silva, J. & Sebra, R., 2023, (Accepted/In press) In: Cellular oncology (Dordrecht).

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

  Open Access

  • Atlases 100%
  • Tumor Cell Line 94%
  • Breast Neoplasms 59%
  • Cell Line 45%
  • Therapeutics 15%

• Using EGFR amplification to stratify recurrent glioblastoma treated with immune checkpoint inhibitors

  Friedman, J. S., Jun, T., Rashidipour, O., Huang, K. L., Ellis, E., Kadaba, P., Belani, P., Nael, K., Tsankova, N. M., Sebra, R. & Hormigo, A., 2023, (Accepted/In press) In: Cancer Immunology, Immunotherapy.

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

  • Glioblastoma 100%
  • Survival 56%
  • High-Throughput Nucleotide Sequencing 27%
  • pembrolizumab 20%
  • Immunohistochemistry 20%
• 2022

  17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes

  International Parkinson’s Disease Genomics Consortium (IPDGC), Dec 2022, In: Molecular Neurodegeneration. 17, 1, 48.

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

  Open Access

  • Haplotypes 100%
  • Astrocytes 97%
  • Parkinson Disease 89%
  • Synucleins 46%
  • Brain 29%
  1 Scopus citations

• A bidirectional competitive interaction between circHomer1 and Homer1b within the orbitofrontal cortex regulates reversal learning

  Hafez, A. K., Zimmerman, A. J., Papageorgiou, G., Chandrasekaran, J., Amoah, S. K., Lin, R., Lozano, E., Pierotti, C., Dell'Orco, M., Hartley, B. J., Alural, B., Lalonde, J., Esposito, J. M., Berretta, S., Squassina, A., Chillotti, C., Voloudakis, G., Shao, Z., Fullard, J. F., Brennand, K. J., & 7 othersTurecki, G., Roussos, P., Perlis, R. H., Haggarty, S. J., Perrone-Bizzozero, N., Brigman, J. L. & Mellios, N., 18 Jan 2022, In: Cell Reports. 38, 3, 110282.

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

  Open Access

  • Reversal Learning 100%
  • RNA(circular) 84%
  • Circular RNAs 63%
  • Prefrontal Cortex 63%
  • Brain Diseases 44%
  6 Scopus citations

• A bio-functional polymer that prevents retinal scarring through modulation of NRF2 signalling pathway

  Parikh, B. H., Liu, Z., Blakeley, P., Lin, Q., Singh, M., Ong, J. Y., Ho, K. H., Lai, J. W., Bogireddi, H., Tran, K. C., Lim, J. Y. C., Xue, K., Al-Mubaarak, A., Yang, B., Sowmiya, R., Regha, K., Wong, D. S. L., Tan, Q. S. W., Zhang, Z., Jeyasekharan, A. D., & 8 othersBarathi, V. A., Yu, W., Cheong, K. H., Blenkinsop, T. A., Hunziker, W., Lingam, G., Loh, X. J. & Su, X., Dec 2022, In: Nature Communications. 13, 1, 2796.

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

  Open Access

  • Retinal Pigment 100%
  • Retinal Pigments 90%
  • Retinal 84%
  • pigments 81%
  • functionals 68%
  5 Scopus citations

• A complete temporal transcription factor series in the fly visual system

  Konstantinides, N., Holguera, I., Rossi, A. M., Escobar, A., Dudragne, L., Chen, Y. C., Tran, T. N., Martínez Jaimes, A. M., Özel, M. N., Simon, F., Shao, Z., Tsankova, N. M., Fullard, J. F., Walldorf, U., Roussos, P. & Desplan, C., 14 Apr 2022, In: Nature. 604, 7905, p. 316-322 7 p.

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

  • Time Factors 100%
  • Diptera 81%
  • Transcription Factors 56%
  • Drosophila 28%
  • Neurons 27%
  15 Scopus citations

• Activation of a transient progenitor state in the epicardium is required for zebrafish heart regeneration

  Xia, Y., Duca, S., Perder, B., Dündar, F., Zumbo, P., Qiu, M., Yao, J., Cao, Y., Harrison, M. R. M., Zangi, L., Betel, D. & Cao, J., Dec 2022, In: Nature Communications. 13, 1, 7704.

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

  Open Access

  • RNA Sequencing 100%
  • epicardium 99%
  • Ablation 69%
  • Pericardium 67%
  • regeneration 67%

• A local tumor microenvironment acquired super-enhancer induces an oncogenic driver in colorectal carcinoma

  Zhou, R. W., Xu, J., Martin, T. C., Zachem, A. L., He, J., Ozturk, S., Demircioglu, D., Bansal, A., Trotta, A. P., Giotti, B., Gryder, B., Shen, Y., Wu, X., Carcamo, S., Bosch, K., Hopkins, B., Tsankov, A., Steinhagen, R., Jones, D. R., Asara, J., & 7 othersChipuk, J. E., Brody, R., Itzkowitz, S., Chio, I. I. C., Hasson, D., Bernstein, E. & Parsons, R. E., Dec 2022, In: Nature Communications. 13, 1, 6041.

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

  Open Access

  • Pentose Phosphate 100%
  • Oncogenic 98%
  • Enhancer 83%
  • Tumor Microenvironment 73%
  • tumors 67%

• Altered BAF occupancy and transcription factor dynamics in PBAF-deficient melanoma

  Carcamo, S., Nguyen, C. B., Grossi, E., Filipescu, D., Alpsoy, A., Dhiman, A., Sun, D., Narang, S., Imig, J., Martin, T. C., Parsons, R., Aifantis, I., Tsirigos, A., Aguirre-Ghiso, J. A., Dykhuizen, E. C., Hasson, D. & Bernstein, E., 5 Apr 2022, In: Cell Reports. 39, 1, 110637.

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

  Open Access

  • Enhancer 100%
  • Chromatin 74%
  • Melanoma 70%
  • Transcription Factors 63%
  • Gene Expression 25%
  4 Scopus citations

• A microRNA Cluster Controls Fat Cell Differentiation and Adipose Tissue Expansion By Regulating SNCG

  Rodríguez-Barrueco, R., Latorre, J., Devis-Jáuregui, L., Lluch, A., Bonifaci, N., Llobet, F. J., Olivan, M., Coll-Iglesias, L., Gassner, K., Davis, M. L., Moreno-Navarrete, J. M., Castells-Nobau, A., Plata-Peña, L., Dalmau-Pastor, M., Höring, M., Liebisch, G., Olkkonen, V. M., Arnoriaga-Rodríguez, M., Ricart, W., Fernández-Real, J. M., & 3 othersSilva, J. M., Ortega, F. J. & Llobet-Navas, D., 2 Feb 2022, In: Advanced Science. 9, 4, 2104759.

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

  Open Access

  • adipose tissues 100%
  • Tissue Expansion 93%
  • MicroRNA 82%
  • fats 80%
  • Oils and fats 77%
  3 Scopus citations

• Anagrelide for platelet-directed cytoreduction in polycythemia vera: Insights into utility and safety outcomes from a large multi-center database

  Rippel, N., Tremblay, D., Zubizarreta, N., Podoltsev, N., Gotlib, J., Heaney, M., Kuykendall, A., O'Connell, C., Shammo, J. M., Fleischman, A., Kremyanskaya, M., Hoffman, R., Mesa, R., Yacoub, A. & Mascarenhas, J., Aug 2022, In: Leukemia Research. 119, 106903.

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

  • anagrelide 100%
  • Polycythemia Vera 75%
  • Blood Platelets 45%
  • Databases 35%
  • Safety 33%

• An atlas of late prenatal human neurodevelopment resolved by single-nucleus transcriptomics

  Ramos, S. I., Mussa, Z. M., Falk, E. N., Pai, B., Giotti, B., Allette, K., Cai, P., Dekio, F., Sebra, R., Beaumont, K. G., Tsankov, A. M. & Tsankova, N. M., Dec 2022, In: Nature Communications. 13, 1, 7671.

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

  Open Access

  • Atlases 100%
  • Neuroglia 82%
  • RNA Sequencing 77%
  • Plate Like Crystal 72%
  • Proliferative 62%

• An injury-responsive Rac-to-Rho GTPase switch drives activation of muscle stem cells through rapid cytoskeletal remodeling

  Kann, A. P., Hung, M., Wang, W., Nguyen, J., Gilbert, P. M., Wu, Z. & Krauss, R. S., 2 Jun 2022, In: Cell Stem Cell. 29, 6, p. 933-947.e6

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

  • rho GTP-Binding Proteins 100%
  • Muscle Cells 73%
  • Stem Cells 58%
  • Wounds and Injuries 38%
  • GTP Phosphohydrolases 13%
  8 Scopus citations

• An interplay between BRD4 and G9a regulates skeletal myogenesis

  Yang, N., Das, D., Shankar, S. R., Goy, P. A., Guccione, E. & Taneja, R., 7 Sep 2022, In: Frontiers in Cell and Developmental Biology. 10, 978931.

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

  Open Access

  • Muscle Development 100%
  • Acetylation 89%
  • Methylation 77%
  • Gene Expression 51%
  • Histone Code 48%

• An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

  Kolevzon, A., Levy, T., Barkley, S., Bedrosian-Sermone, S., Davis, M., Foss-Feig, J., Halpern, D., Keller, K., Kostic, A., Layton, C., Lee, R., Lerman, B., Might, M., Sandin, S., Siper, P. M., Sloofman, L. G., Walker, H., Zweifach, J. & Buxbaum, J. D., 13 Oct 2022, In: Human Genetics and Genomics Advances. 3, 4, 100138.

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

  Open Access

  • Ketamine 100%
  • Safety 53%
  • Child 39%
  • Proteins 33%
  • Eye 12%
  1 Scopus citations

• Anti-invasive efficacy and survival benefit of the YAP-TEAD inhibitor verteporfin in preclinical glioblastoma models

  Barrette, A. M., Ronk, H., Joshi, T., Mussa, Z., Mehrotra, M., Bouras, A., Nudelman, G., Jesu Raj, J. G., Bozec, D., Lam, W., Houldsworth, J., Yong, R., Zaslavsky, E., Hadjipanayis, C. G., Birtwistle, M. R. & Tsankova, N. M., 1 May 2022, In: Neuro-Oncology. 24, 5, p. 694-707 14 p.

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

  • Verteporfin 100%
  • Glioblastoma 66%
  • Survival 37%
  • Heterografts 20%
  • Tumor Burden 14%
  4 Scopus citations

• A Participant-Centered Approach to Understanding Risks and Benefits of Participation in Research Informed by the Kidney Precision Medicine Project

  Kidney Precision Medicine Project, Jul 2022, In: American Journal of Kidney Diseases. 80, 1, p. 132-138 7 p.

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

  Open Access

  • Precision Medicine 100%
  • Risk Assessment 77%
  • Kidney 49%
  • Ethicists 34%
  • Respect 24%

• APOE4 confers transcriptomic and functional alterations to primary mouse microglia

  Machlovi, S. I., Neuner, S. M., Hemmer, B. M., Khan, R., Liu, Y., Huang, M., Zhu, J. D., Castellano, J. M., Cai, D., Marcora, E. & Goate, A. M., Mar 2022, In: Neurobiology of Disease. 164, 105615.

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

  Open Access

  • Microglia 100%
  • Genotype 49%
  • Myelin Sheath 40%
  • Alzheimer Disease 38%
  • Apolipoproteins E 31%
  5 Scopus citations

• APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes

  Blanchard, J. W., Akay, L. A., Davila-Velderrain, J., von Maydell, D., Mathys, H., Davidson, S. M., Effenberger, A., Chen, C. Y., Maner-Smith, K., Hajjar, I., Ortlund, E. A., Bula, M., Agbas, E., Ng, A., Jiang, X., Kahn, M., Blanco-Duque, C., Lavoie, N., Liu, L., Reyes, R., & 8 othersLin, Y. T., Ko, T., R’Bibo, L., Ralvenius, W. T., Bennett, D. A., Cam, H. P., Kellis, M. & Tsai, L. H., 24 Nov 2022, In: Nature. 611, 7937, p. 769-779 11 p.

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

  • Oligodendroglia 100%
  • Cholesterol 66%
  • Brain 44%
  • Memory 18%
  • Lipidomics 17%
  9 Scopus citations

• A proliferative to invasive switch is mediated by srGAP1 downregulation through the activation of TGF-β2 signaling

  Mondal, C., Gacha-Garay, M. J., Larkin, K. A., Adikes, R. C., Di Martino, J. S., Chien, C. C., Fraser, M., Eni-aganga, I., Agullo-Pascual, E., Cialowicz, K., Ozbek, U., Naba, A., Gaitas, A., Fu, T. M., Upadhyayula, S., Betzig, E., Matus, D. Q., Martin, B. L. & Bravo-Cordero, J. J., 20 Sep 2022, In: Cell Reports. 40, 12, 111358.

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

  Open Access

  • Proliferative 100%
  • Down-Regulation 52%
  • Breast Neoplasms 35%
  • Zebrafish 9%
  • Neoplasms 9%
  2 Scopus citations

• A randomized phase 3 trial of interferon-α vs hydroxyurea in polycythemia vera and essential thrombocythemia

  Mascarenhas, J., Kosiorek, H. E., Prchal, J. T., Rambaldi, A., Berenzon, D., Yacoub, A., Harrison, C. N., McMullin, M. F., Vannucchi, A. M., Ewing, J., O'Connell, C. L., Kiladjian, J. J., Mead, A. J., Winton, E. F., Leibowitz, D. S., De Stefano, V., Arcasoy, M. O., Kessler, C. M., Catchatourian, R., Rondelli, D., & 23 othersSilver, R. T., Bacigalupo, A., Nagler, A., Kremyanskaya, M., Levine, M. F., Arango Ossa, J. E., McGovern, E., Sandy, L., Salama, M. E., Najfeld, V., Tripodi, J., Farnoud, N., Penson, A. V., Weinberg, R. S., Price, L., Goldberg, J. D., Barbui, T., Marchioli, R., Tognoni, G., Rampal, R. K., Mesa, R. A., Dueck, A. C. & Hoffman, R., 12 May 2022, In: Blood. 139, 19, p. 2931-2941 11 p.

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

  Open Access

  • Hydroxyurea 100%
  • Essential Thrombocythemia 92%
  • Polycythemia Vera 89%
  • Interferons 63%
  • Thrombotic 39%
  17 Scopus citations

• A reference tissue atlas for the human kidney

  Kidney Precision Medicine Project, Jun 2022, In: Science advances. 8, 23, eabn4965.

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

  • Atlases 100%
  • Kidney 49%
  • Nephrons 30%
  • Proteomics 24%
  • Microdissection 17%
  8 Scopus citations

• ARID1A mutation associated with recurrence and shorter progression-free survival in atypical meningiomas

  Chaluts, D., Dullea, J. T., Ali, M., Vasan, V., Devarajan, A., Rutland, J. W., Gill, C. M., Ellis, E., Kinoshita, Y., McBride, R. B., Bederson, J., Donovan, M., Sebra, R., Umphlett, M. & Shrivastava, R. K., 2022, (Accepted/In press) In: Journal of Cancer Research and Clinical Oncology.

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

  • Meningioma 100%
  • Progression-Free Survival 83%
  • Recurrence 52%
  • Mutation 51%
  • Neoplasms 29%