Mindich Child Health and Development Institute

Research output

Research output per year 1977 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2023

• 308443 Citations
• 255 h-index
• 3315 Article
• 441 Review article
• 184 Comment/debate
• 141 Chapter
• 288 More
  • 134 Letter
  • 80 Editorial
  • 28 Short survey
  • 23 Conference contribution
  • 12 Foreword/postscript
  • 7 Book
  • 2 Conference article
  • 2 Preprint

Research output per year

Research output per year

Search results

• 2023

  Accelerating Food Allergy Research: Need for a Data Commons

  Gupta, R. S., Sehgal, S., Wlodarski, M., Bilaver, L. A., Wehbe, F. H., Spergel, J. M., Wang, J., Ciaccio, C. E., Nimmagadda, S. R., Assa'ad, A., Mahdavinia, M., Wasserman, R. L., Brown, E., Sicherer, S. H., Bird, J. A., Roberts, B., Sharma, H. P., Mendez, K., Holding, E. G., Mitchell, L., & 3 othersCorbett, M., Makhija, M. & Starren, J. B., Apr 2023, In: Journal of Allergy and Clinical Immunology: In Practice. 11, 4, p. 1063-1067 5 p.

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

  • Food Hypersensitivity 100%
  • Data Management 28%
  • Multifactorial Inheritance 26%
  • Research Personnel 14%
  • Health 10%

• A consensus protocol for functional connectivity analysis in the rat brain

  Grandjean, J., Desrosiers-Gregoire, G., Anckaerts, C., Angeles-Valdez, D., Ayad, F., Barrière, D. A., Blockx, I., Bortel, A., Broadwater, M., Cardoso, B. M., Célestine, M., Chavez-Negrete, J. E., Choi, S., Christiaen, E., Clavijo, P., Colon-Perez, L., Cramer, S., Daniele, T., Dempsey, E., Diao, Y., & 189 othersDoelemeyer, A., Dopfel, D., Dvořáková, L., Falfán-Melgoza, C., Fernandes, F. F., Fowler, C. F., Fuentes-Ibañez, A., Garin, C., Gelderman, E., Golden, C. E. M., Guo, C. C. G., Henckens, M. J. A. G., Hennessy, L. A., Herman, P., Hofwijks, N., Horien, C., Ionescu, T. M., Jones, J., Kaesser, J., Kim, E., Lambers, H., Lazari, A., Lee, S. H., Lillywhite, A., Liu, Y., Liu, Y. Y., López -Castro, A., López-Gil, X., Ma, Z., MacNicol, E., Madularu, D., Mandino, F., Marciano, S., McAuslan, M. J., McCunn, P., McIntosh, A., Meng, X., Meyer-Baese, L., Missault, S., Moro, F., Naessens, D. M. P., Nava-Gomez, L. J., Nonaka, H., Ortiz, J. J., Paasonen, J., Peeters, L. M., Pereira, M., Perez, P. D., Pompilus, M., Prior, M., Rakhmatullin, R., Reimann, H. M., Reinwald, J., Del Rio, R. T., Rivera-Olvera, A., Ruiz-Pérez, D., Russo, G., Rutten, T. J., Ryoke, R., Sack, M., Salvan, P., Sanganahalli, B. G., Schroeter, A., Seewoo, B. J., Selingue, E., Seuwen, A., Shi, B., Sirmpilatze, N., Smith, J. A. B., Smith, C., Sobczak, F., Stenroos, P. J., Straathof, M., Strobelt, S., Sumiyoshi, A., Takahashi, K., Torres-García, M. E., Tudela, R., van den Berg, M., van der Marel, K., van Hout, A. T. B., Vertullo, R., Vidal, B., Vrooman, R. M., Wang, V. X., Wank, I., Watson, D. J. G., Yin, T., Zhang, Y., Zurbruegg, S., Achard, S., Alcauter, S., Auer, D. P., Barbier, E. L., Baudewig, J., Beckmann, C. F., Beckmann, N., Becq, G. J. P. C., Blezer, E. L. A., Bolbos, R., Boretius, S., Bouvard, S., Budinger, E., Buxbaum, J. D., Cash, D., Chapman, V., Chuang, K. H., Ciobanu, L., Coolen, B. F., Dalley, J. W., Dhenain, M., Dijkhuizen, R. M., Esteban, O., Faber, C., Febo, M., Feindel, K. W., Forloni, G., Fouquet, J., Garza-Villarreal, E. A., Gass, N., Glennon, J. C., Gozzi, A., Gröhn, O., Harkin, A., Heerschap, A., Helluy, X., Herfert, K., Heuser, A., Homberg, J. R., Houwing, D. J., Hyder, F., Ielacqua, G. D., Jelescu, I. O., Johansen-Berg, H., Kaneko, G., Kawashima, R., Keilholz, S. D., Keliris, G. A., Kelly, C., Kerskens, C., Khokhar, J. Y., Kind, P. C., Langlois, J. B., Lerch, J. P., López-Hidalgo, M. A., Manahan-Vaughan, D., Marchand, F., Mars, R. B., Marsella, G., Micotti, E., Muñoz-Moreno, E., Near, J., Niendorf, T., Otte, W. M., Pais-Roldán, P., Pan, W. J., Prado-Alcalá, R. A., Quirarte, G. L., Rodger, J., Rosenow, T., Sampaio-Baptista, C., Sartorius, A., Sawiak, S. J., Scheenen, T. W. J., Shemesh, N., Shih, Y. Y. I., Shmuel, A., Soria, G., Stoop, R., Thompson, G. J., Till, S. M., Todd, N., Van Der Linden, A., van der Toorn, A., van Tilborg, G. A. F., Vanhove, C., Veltien, A., Verhoye, M., Wachsmuth, L., Weber-Fahr, W., Wenk, P., Yu, X., Zerbi, V., Zhang, N., Zhang, B. B., Zimmer, L., Devenyi, G. A., Chakravarty, M. M. & Hess, A., Apr 2023, In: Nature Neuroscience. 26, 4, p. 673-681 9 p.

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

  • Brain 100%
  • Neurosciences 72%
  • Neuroimaging 61%
  • Datasets 53%
  • Animal Models 49%
  3 Scopus citations

• A cross-validation based approach for estimating specific gravity in elementary-school aged children using a nonlinear model

  Busgang, S. A., Andra, S. S., Curtin, P., Colicino, E., Mazzella, M. J., Bixby, M., Sanders, A. P., Meeker, J. D., Hauptman, M., Yelamanchili, S., Phipatanakul, W. & Gennings, C., 15 Jan 2023, In: Environmental Research. 217, 114793.

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

  • Nonlinear Dynamics 100%
  • Specific Gravity 98%
  • Gravity 87%
  • school 67%
  • gravity 56%

• Acute systemic myeloid inflammatory and stress response in severe food allergic reactions

  Sharma, A., Rijavec, M., Tomar, S., Yamani, A., Ganesan, V., Krempski, J., Schuler, C. F., Bunyavanich, S., Korosec, P. & Hogan, S. P., May 2023, In: Clinical and Experimental Allergy. 53, 5, p. 536-549 14 p.

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

  • Food Hypersensitivity 100%
  • Hypersensitivity 97%
  • Food 83%
  • Immunoglobulin E 47%
  • Transcriptome 46%

• ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges

  Fastman, J. & Kolevzon, A., Mar 2023, In: Children. 10, 3, 593.

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

  Open Access

  • Symptom Assessment 100%
  • Interviews 32%
  • Caregivers 31%
  • Health Care Outcome Assessment 16%
  • Neurodevelopmental Disorders 14%

• Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency

  Walter, J. E., Ziegler, J. B., Ballow, M. & Cunningham-Rundles, C., Jan 2023, In: Journal of Allergy and Clinical Immunology: In Practice. 11, 1, p. 107-115 9 p.

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

  • Severe Combined Immunodeficiency 100%
  • Genetic Testing 80%
  • Immunologic Deficiency Syndromes 70%
  • Immunity 63%
  • SARS Virus 57%
  1 Scopus citations

• A human-relevant mixture of endocrine disrupting chemicals induces changes in hippocampal DNA methylation correlating with hyperactive behavior in male mice

  Di Criscio, M., Lodahl, J. E., Stamatakis, A., Kitraki, E., Bakoyiannis, I., Repouskou, A., Bornehag, C. G., Gennings, C., Lupu, D. & Rüegg, J., Feb 2023, In: Chemosphere. 313, 137633.

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

  Open Access

  • DNA Methylation 100%
  • Endocrine Disruptors 77%
  • Endocrine Disruptor 74%
  • methylation 71%
  • gene expression 70%
  1 Scopus citations

• Allergen recognition by specific effector Th2 cells enables IL-2-dependent activation of regulatory T-cell responses in humans

  Lozano-Ojalvo, D., Tyler, S. R., Aranda, C. J., Wang, J., Sicherer, S., Sampson, H. A., Wood, R. A., Burks, A. W., Jones, S. M., Leung, D. Y. M., de Lafaille, M. C. & Berin, M. C., Mar 2023, In: Allergy: European Journal of Allergy and Clinical Immunology. 78, 3, p. 697-713 17 p.

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

  • Th2 Cells 100%
  • Regulatory T-Lymphocytes 84%
  • Allergens 79%
  • Interleukin-2 75%
  • Food 29%
  4 Scopus citations

• Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome

  Mercaldo, V., Vidimova, B., Gastaldo, D., Fernández, E., Lo, A. C., Cencelli, G., Pedini, G., De Rubeis, S., Longo, F., Klann, E., Smit, A. B., Grant, S. G. N., Achsel, T. & Bagni, C., 7 Jun 2023, In: Neuron. 111, 11, p. 1760-1775.e8

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

  • Fragile X Syndrome 100%
  • Drive 79%
  • Corpus Striatum 75%
  • Actins 65%
  • Post-Synaptic Density 26%
  1 Scopus citations

• 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%
  7 Scopus citations

• A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency

  Prasun, P., Evans, A., Cork, E., Houten, S. M. & Webb, B. D., Apr 2023, In: American Journal of Medical Genetics, Part A. 191, 4, p. 1089-1093 5 p.

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

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency 100%
  • Neonatal Screening 13%
  • Whole Genome Sequencing 13%
  • Choline 12%
  • Luciferases 10%

• A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype

  Ferrer-Vicens, I., Ferguson, D. C. J., Wilson, M. C., Heesom, K. J., Bieker, J. J. & Frayne, J., 22 Jun 2023, In: Blood. 141, 25, p. 3039-3054 16 p.

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

  • Congenital Dyserythropoietic Anemia 100%
  • Mutation 50%
  • Phenotype 36%
  • Disorder 25%
  • Erythroid Cells 25%

• A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA

  Hernandez-Trujillo, V., Zhou, C., Scalchunes, C., Ochs, H. D., Sullivan, K. E., Cunningham-Rundles, C., Fuleihan, R. L., Bonilla, F. A., Petrovic, A., Rawlings, D. J. & de la Morena, M. T., Aug 2023, In: Journal of Clinical Immunology. 43, 6, p. 1468-1477 10 p.

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

  Open Access

  • Bruton type agammaglobulinemia 100%
  • Registries 52%
  • Immunoglobulin G 6%
  • Mortality 6%
  • Agammaglobulinaemia Tyrosine Kinase 6%

• Association Between Mental Health and Reproductive System Disorders in Women: A Systematic Review and Meta-analysis

  Zaks, N., Batuure, A., Lin, E., Rommel, A. S., Reichenberg, A., Grice, D., Bergink, V., Fox, N. S., Mahjani, B. & Janecka, M., 3 Apr 2023, In: JAMA network open. 6, 4, p. e238685

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

  Open Access

  • Mental Health Associations 100%
  • Genitalia 59%
  • Mental Disorders 52%
  • Meta-Analysis 48%
  • Systematic Reviews 47%
  2 Scopus citations

• 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%

• Associations between early-life exposure to PM_2.5and reductions in childhood lung function in two North American longitudinal pregnancy cohort studies

  Rosa, M. J., Lamadrid-Figueroa, H., Alcala, C., Colicino, E., Tamayo-Ortiz, M., Mercado-Garcia, A., Kloog, I., Just, A. C., Bush, D., Carroll, K. N., Téllez-Rojo, M. M., Wright, R. O., Gennings, C. & Wright, R. J., 14 Feb 2023, In: Environmental Epidemiology. 7, 1, p. E234

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

  Open Access

  • pregnancy 100%
  • childhood 62%
  • Cohort Studies 62%
  • Pregnancy 54%
  • exposure 52%

• Associations between prenatal organophosphate pesticide exposure and placental gene networks

  Li, Q., Lesseur, C., Srirangam, P., Kaur, K., Hermetz, K., Caudle, W. M., Fiedler, N., Panuwet, P., Prapamontol, T., Naksen, W., Suttiwan, P., Baumert, B. O., Hao, K., Barr, D. B., Marsit, C. J. & Chen, J., 1 May 2023, In: Environmental Research. 224, 115490.

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

  • organophosphorus pesticide 100%
  • Organophosphates 90%
  • Organophosphate Pesticide 86%
  • Pesticides 79%
  • Dialkyl Phosphate 78%

• Associations of an industry-relevant metal mixture with verbal learning and memory in Italian adolescents: The modifying role of iron status

  Schildroth, S., Friedman, A., White, R. F., Kordas, K., Placidi, D., Bauer, J. A., Webster, T. F., Coull, B. A., Cagna, G., Wright, R. O., Smith, D., Lucchini, R. G., Horton, M. & Claus Henn, B., 1 May 2023, In: Environmental Research. 224, 115457.

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

  • metals industry 100%
  • Verbal Learning 94%
  • Industry 65%
  • Metals 61%
  • Iron 59%

• Associations of neighborhood social vulnerability with emergency department visits and readmissions among infants with bronchopulmonary dysplasia

  Nelin, T. D., Yang, N., Radack, J., Lorch, S. A., DeMauro, S. B., Bamat, N. A., Jensen, E. A., Gibbs, K., Just, A. C. & Burris, H. H., 2023, (Accepted/In press) In: Journal of Perinatology.

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

  • Bronchopulmonary Dysplasia 100%
  • Hospital Emergency Service 64%
  • Patient Readmission 30%
  • Centers for Disease Control and Prevention (U.S.) 27%
  • Premature Infants 25%

• Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia

  ArtDECO consortium & COVID HGE consortium, Aug 2023, In: Journal of Clinical Immunology. 43, 6, p. 1093-1103 11 p.

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

  Open Access

  • Interferon Type I 100%
  • Bronchoalveolar Lavage 90%
  • Autoantibodies 77%
  • Interferons 77%
  • Pneumonia 67%

• Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c⁺ B cells

  Malle, L., Patel, R. S., Martin-Fernandez, M., Stewart, O. J., Philippot, Q., Buta, S., Richardson, A., Barcessat, V., Taft, J., Bastard, P., Samuels, J., Mircher, C., Rebillat, A. S., Maillebouis, L., Vilaire-Meunier, M., Tuballes, K., Rosenberg, B. R., Trachtman, R., Casanova, J. L., Notarangelo, L. D., & 3 othersGnjatic, S., Bush, D. & Bogunovic, D., 9 Mar 2023, In: Nature. 615, 7951, p. 305-314 10 p.

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

  Open Access

  • Down Syndrome 100%
  • Autoimmunity 93%
  • B-Lymphocytes 74%
  • Cytokines 59%
  • T-Lymphocytes 59%
  6 Scopus citations

• Autologous hematopoietic stem cell transplantation in Clarkson disease

  Druey, K. M., Eisch, A. R. & Cunningham-Rundles, C., Jan 2023, In: Journal of Allergy and Clinical Immunology: In Practice. 11, 1, p. 347-349 3 p.

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

  Open Access

• Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

  NIHR BioResource-Rare Diseases Consortium, 2023, (Accepted/In press) In: Journal of Clinical Immunology.

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

  Open Access

  • STAT6 Transcription Factor 100%
  • Lymphoma 53%
  • Interleukin-4 16%
  • Janus Kinases 12%
  • Follicular Lymphoma 11%

• A Van Gogh/Vangl tyrosine phosphorylation switch regulates its interaction with core Planar Cell Polarity factors Prickle and Dishevelled

  Humphries, A. C., Molina-Pelayo, C., Sil, P., Clayton Hazelett, C., Devenport, D. & Mlodzik, M., 18 Jul 2023, In: PLoS Genetics. 19, 7, e1010849.

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

  Open Access

  • cell polarity 100%
  • plant spines 94%
  • Cell Polarity 91%
  • Tyrosine 68%
  • tyrosine 67%

• A weighted quantile sum regression with penalized weights and two indices

  Renzetti, S., Gennings, C. & Calza, S., 2023, In: Frontiers in Public Health. 11, 1151821.

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

  Open Access

  • Direction compound 100%
  • Weights and Measures 87%
  • regression 87%
  • Nutrients 33%
  • Obesity 27%

• Biopsy and blood-based molecular biomarker of inflammation in IBD

  Argmann, C., Hou, R., Ungaro, R. C., Irizar, H., Al-Taie, Z., Huang, R., Kosoy, R., Venkat, S., Song, W. M., Di'narzo, A. F., Losic, B., Hao, K., Peters, L., Comella, P. H., Wei, G., Atreja, A., Mahajan, M., Iuga, A., Desai, P. T., Branigan, P., & 15 othersStojmirovic, A., Perrigoue, J., Brodmerkel, C., Curran, M., Friedman, J. R., Hart, A., Lamousé-Smith, E., Wehkamp, J., Mehandru, S., Schadt, E. E., Sands, B. E., Dubinsky, M. C., Colombel, J. F., Kasarskis, A. & Suárez-Fariñas, M., 1 Jul 2023, In: Gut. 72, 7, p. 1271-1287 17 p.

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

  • Biomarkers 100%
  • Biopsy 93%
  • Inflammation 90%
  • Gene Expression Profiling 26%
  • Colitis 26%
  4 Scopus citations

• Blood Pressure Classification Status in Children With CKD Following Adoption of the 2017 American Academy of Pediatrics Guideline

  CKiD Study Investigators, May 2023, In: American Journal of Kidney Diseases. 81, 5, p. 545-553 9 p.

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

  • Chronic Renal Insufficiency 100%
  • Hypertension 70%
  • Pediatrics 70%
  • Guidelines 70%
  • Blood Pressure 69%
  1 Scopus citations

• BRD4-PRC2 represses transcription of T-helper 2-specific negative regulators during T-cell differentiation

  Zhao, L., Wang, Y., Jaganathan, A., Sun, Y., Ma, N., Li, N., Han, X., Sun, X., Yi, H., Fu, S., Han, F., Li, X., Xiao, K., Walsh, M. J., Zeng, L., Zhou, M. M. & Cheung, K. L., 15 Mar 2023, In: EMBO Journal. 42, 6, e111473.

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

  Open Access

  • H3K27Me3 100%
  • Polycomb Repressive Complex 2 80%
  • Th2 Cells 61%
  • Interleukin-13 59%
  • Histone 56%
  2 Scopus citations

• Breast Cancer Molecular Subtypes and Supervised Analysis of Urinary Metal Mixtures in Mexican Women

  Mérida-Ortega, Á., Gennings, C., Rothenberg, S. J., Cebrián, M. E. & López-Carrillo, L., 2023, (Accepted/In press) In: Exposure and Health.

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

  • Epidermal Growth Factor 100%
  • woman 88%
  • cancer 86%
  • Metals 79%
  • Breast Neoplasms 59%

• CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

  Pavinato, L., Delle Vedove, A., Carli, D., Ferrero, M., Carestiato, S., Howe, J. L., Agolini, E., Coviello, D. A., Van De Laar, I., Au, P. Y. B., Di Gregorio, E., Fabbiani, A., Croci, S., Mencarelli, M. A., Bruno, L. P., Renieri, A., Veltra, D., Sofocleous, C., Faivre, L., Mazel, B., & 14 othersSafraou, H., DenommCrossed D sign©-Pichon, A. S., Van Slegtenhorst, M. A., Giesbertz, N., Van Jaarsveld, R. H., Childers, A., Rogers, R. C., Novelli, A., De Rubeis, S., Buxbaum, J. D., Scherer, S. W., Ferrero, G. B., Wirth, B. & Brusco, A., 1 Feb 2023, In: Brain. 146, 2, p. 534-548 15 p.

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

  • Haploinsufficiency 100%
  • Neurodevelopmental Disorders 91%
  • Language 61%
  • Neurons 48%
  • Protein Biosynthesis 42%
  3 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%

• Challenges in the Clinical Recognition of Acute Flaccid Myelitis and its Implications

  Hayes, L. H., Hopkins, S. E., Liu, S., Pardo, C. A., Garcia-Dominguez, M. A., Oleszek, J., Yea, C., Ciftci-Kavaklioglu, B., Yeh, E. A., Dean, J., Sadowsky, C. L., Desai, J., Wiegand, S., Farias-Moeller, R., Nash, K., Thakur, K. T., Vargas, W. S., Hong-Routson, S. J., Yeshokumar, A., Zhou, M. S., & 5 othersMakhani, N., Wilson-Murphy, M., Bove, R., Zhang, B. & Benson, L. A., Feb 2023, In: Journal of Pediatrics. 253, p. 55-62.e4

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

  Open Access

  • acute flaccid myelitis 100%
  • Myelitis 29%
  • cyclo(Arg-Pro) 15%
  • Intravenous Immunoglobulins 11%
  • Time-to-Treatment 11%
  1 Scopus citations

• Clonal haematopoiesis and risk of chronic liver disease

  NHLBI TOPMed Hematology Working Group, 27 Apr 2023, In: Nature. 616, 7958, p. 747-754 8 p.

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

  • Hematopoiesis 100%
  • Liver Diseases 77%
  • Chronic Disease 67%
  • Inflammation 36%
  • Odds Ratio 29%
  6 Scopus citations

• 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%
  5 Scopus citations

• Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease

  Jang, M. Y., Patel, P. N., Pereira, A. C., Willcox, J. A. L., Haghighi, A., Tai, A. C., Ito, K., Morton, S. U., Gorham, J. M., McKean, D. M., Depalma, S. R., Bernstein, D., Brueckner, M., Chung, W. K., Giardini, A., Goldmuntz, E., Kaltman, J. R., Kim, R., Newburger, J. W., Shen, Y., & 6 othersSrivastava, D., Tristani-Firouzi, M., Gelb, B. D., Porter, G. A., Seidman, C. E. & Seidman, J. G., 1 Jun 2023, In: Circulation. Genomic and precision medicine. 16, 3, p. 224-231 8 p.

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

  • Heart Diseases 100%
  • RNA 85%
  • RNA Splicing 60%
  • Genes 13%
  • Genetic Background 11%
  1 Scopus citations

• Cross-sectional associations of maternal PFAS exposure on SARS-CoV-2 IgG antibody levels during pregnancy

  Kaur, K., Lesseur, C., Chen, L., Andra, S. S., Narasimhan, S., Pulivarthi, D., Midya, V., Ma, Y., Ibroci, E., Gigase, F., Lieber, M., Lieb, W., Janevic, T., De Witte, L. D., Bergink, V., Rommel, A. S. & Chen, J., 15 Feb 2023, In: Environmental Research. 219, 115067.

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

  • severe acute respiratory syndrome 100%
  • SARS Virus 96%
  • pregnancy 71%
  • antibody 69%
  • Immunoglobulin G 49%
  1 Scopus citations

• Cytochrome P450 3A4 suppression by epimedium and active compound kaempferol leads to synergistic anti-inflammatory effect with corticosteroid

  Li, K., Yu, X. H., Maskey, A. R., Musa, I., Wang, Z. Z., Garcia, V., Guo, A., Yang, N., Srivastava, K., Dunkin, D., Li, J. X., Guo, L., Cheng, Y. C., Yuan, H., Tiwari, R. & Li, X. M., 30 Jan 2023, In: Frontiers in Pharmacology. 13, 1042756.

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

  Open Access

  • Epimedium 100%
  • kaempferol 86%
  • Cytochrome P-450 CYP3A 70%
  • Adrenal Cortex Hormones 50%
  • Anti-Inflammatory Agents 45%
  1 Scopus citations

• Cytokinopathy with aberrant cytotoxic lymphocytes and profibrotic myeloid response in SARS-CoV-2 mRNA vaccine–associated myocarditis

  Barmada, A., Klein, J., Ramaswamy, A., Brodsky, N. N., Jaycox, J. R., Sheikha, H., Jones, K. M., Habet, V., Campbell, M., Sumida, T. S., Kontorovich, A., Bogunovic, D., Oliveira, C. R., Steele, J., Hall, E. K., Pena-Hernandez, M., Monteiro, V., Lucas, C., Ring, A. M., Omer, S. B., & 3 othersIwasaki, A., Yildirim, I. & Lucas, C. L., May 2023, In: Science immunology. 8, 83, eadh3455.

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

  Open Access

  • SARS Virus 100%
  • Myocarditis 76%
  • Vaccination 54%
  • Vaccines 50%
  • Lymphocytes 46%
  5 Scopus citations

• Defining Neonatal Serious Illness: Perspectives of Nurses and Social Workers

  Guttmann, K. F., Raviv, G. N., Fortney, C. A. & Weintraub, A. S., 2023, (Accepted/In press) In: Journal of Palliative Medicine.

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

  • Social Workers 100%
  • Neonatal Nurses 97%
  • Nurses 60%
  • Social Perception 29%
  • Physicians 26%

• 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%
  3 Scopus citations

• Detection of SARS-CoV-2 Antibodies in Immunoglobulin Products

  Cousins, K., Sano, K., Lam, B., Röltgen, K., Bhavsar, D., Singh, G., McRae, O., Jeong, S., Aboelregal, N., Ho, H. E., Boyd, S., Krammer, F. & Cunningham-Rundles, C., 2023, (Accepted/In press) In: Journal of Allergy and Clinical Immunology: In Practice.

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

  Open Access

  • Severe Acute Respiratory Syndrome 100%
  • Coronavirus 97%
  • Immunoglobulins 68%
  • angiotensin converting enzyme 2 43%
  • Antibodies 42%

• Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

  Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., Graglia, J. M., Delagrammatikas, C., Bedrosian-Sermone, S., Beekhuyzen, J., Smith-Hicks, C., Sahin, M., Eng, C., Hardan, A. Y. & Uljarević, M., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1741-1757 17 p.

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

  Open Access

  • Multiple Hamartoma Syndrome 100%
  • Neurodevelopmental Disorders 33%
  • Psychometrics 17%
  • Discriminant Analysis 10%
  • Clinical Trials 6%
  1 Scopus citations

• Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

  Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., J. Michael, G., Delagrammatikas, C. G., Bedrosian-Sermone, S., Smith-Hicks, C., Huba, K., Longyear, R., Green-Snyder, L. A., Shic, F., Sahin, M., & 3 othersEng, C., Hardan, A. Y. & Uljarević, M., 2023, (Accepted/In press) In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.

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

  Open Access

  • Artificial Intelligence 100%
  • Mutation 31%
  • Vocabulary 23%
  • Discriminant Analysis 21%
  • Intellectual Disability 17%

• Direct additive genetics and maternal effect contribute to the risk of Tourette disorder

  Mahjani, B., Klei, L., Buxbaum Grice, A. S., Larsson, H., Hultman, C. M., Sandin, S., Devlin, B., Buxbaum, J. D. & Grice, D. E., 1 Aug 2023, In: Journal of Neurology, Neurosurgery and Psychiatry. 94, 8, p. 638-642 5 p.

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

  • Tourette Syndrome 100%
  • Maternal Inheritance 97%
  • Tic Disorders 12%
  • Parturition 11%
  • Sweden 8%

• Dissecting aortic aneurysm in Marfan syndrome is associated with losartan-sensitive transcriptomic modulation of aortic cells

  Sun, Y., Asano, K., Sedes, L., Cantalupo, A., Hansen, J., Iyengar, R., Walsh, M. J. & Ramirez, F., 2023, In: JCI insight. 8, 10, e168793.

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

  Open Access

  • Marfan Syndrome 100%
  • Losartan 93%
  • Aortic Aneurysm 89%
  • Dissecting Aneurysm 86%
  • Thoracic Aortic Aneurysm 50%

• Double-Blind, Placebo-Controlled Study of E-B-FAHF-2 in Combination With Omalizumab-Facilitated Multiallergen Oral Immunotherapy

  Wang, J., Wood, R. A., Raymond, S., Suárez-Fariñas, M., Yang, N., Sicherer, S. H., Sampson, H. A. & Li, X. M., Jul 2023, In: Journal of Allergy and Clinical Immunology: In Practice. 11, 7, p. 2208-2216.e1

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

  • Omalizumab 100%
  • Immunotherapy 61%
  • Placebos 47%
  • Allergens 21%
  • Food Allergy Herbal Formula-2 16%
  1 Scopus citations

• Dysfunction of ubiquitin protein ligase MYCBP2 leads to cell resilience in human breast cancers

  Neff, R. A., Bosch-Gutierrez, A., Sun, Y., Katsyv, I., Song, W. M., Wang, M., Walsh, M. J. & Zhang, B., 1 Sep 2023, In: NAR Cancer. 5, 3, zcad036.

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

  Open Access

  • Ubiquitin-Protein Ligases 100%
  • Breast Neoplasms 55%
  • Apoptosis 32%
  • Genetic Loci 21%
  • Interleukins 19%

• Early-Life Critical Windows of Susceptibility to Manganese Exposure and Sex-Specific Changes in Brain Connectivity in Late Adolescence

  Rechtman, E., Navarro, E., de Water, E., Tang, C. Y., Curtin, P., Papazaharias, D. M., Ambrosi, C., Mascaro, L., Cagna, G., Gasparotti, R., Invernizzi, A., Reichenberg, A., Austin, C., Arora, M., Smith, D. R., Lucchini, R. G., Wright, R. O., Placidi, D. & Horton, M. K., Jul 2023, In: Biological Psychiatry Global Open Science. 3, 3, p. 460-469 10 p.

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

  Open Access

  • Manganese 100%
  • Brain 40%
  • Putamen 18%
  • Occipital Lobe 17%
  • Dentin 17%
  2 Scopus citations

• Early-life fecal metabolomics of food allergy

  Lee-Sarwar, K. A., Chen, Y. C., Lasky-Su, J., Kelly, R. S., Zeiger, R. S., O'Connor, G. T., Bacharier, L. B., Jia, X., Beigelman, A., Gold, D. R., Laranjo, N., Bunyavanich, S., Weiss, S. T., Litonjua, A. A. & Brennan, P. J., Feb 2023, In: Allergy: European Journal of Allergy and Clinical Immunology. 78, 2, p. 512-521 10 p.

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

  • Food Hypersensitivity 100%
  • Metabolomics 93%
  • Caffeine 26%
  • Bile Acids and Salts 26%
  • Sphingolipids 20%
  3 Scopus citations

• Early prenatal sex steroids and sex-typed play behavior at 4 years of age

  Sethuram, S., Raymond, S., Wang, C., Barrett, E. S., Bush, N. R., Nguyen, R., Sathyanarayana, S., Swan, S. H. & Evans, S. F., Oct 2023, In: Psychoneuroendocrinology. 156, 106288.

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

  • Steroids 100%
  • Equipment and Supplies 80%
  • Testosterone 78%
  • Estrogens 55%
  • Gonadal Steroid Hormones 48%