Department of Pediatrics

Displaying 1701 - 1750 of 2088CSV
Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Wigderson, M., Tauscher-Wisniewski, S., … Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1390–1397. https://doi.org/10.1038/s41591-022-01867-3
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Darras, B. T., Guye, S., Hoffart, J., Schneider, S., Gravestock, I., Gorni, K., Fuerst‐Recktenwald, S., Scalco, R. S., Finkel, R. S., & De Vivo, D. C. (2022). Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle & Nerve, 66(1), 84–90. Portico. https://doi.org/10.1002/mus.27556
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Miller, D. T., Lee, K., Abul-Husn, N. S., Amendola, L. M., Brothers, K., Chung, W. K., Gollob, M. H., Gordon, A. S., Harrison, S. M., Hershberger, R. E., Klein, T. E., Richards, C. S., Stewart, D. R., & Martin, C. L. (2022). ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 24(7), 1407–1414. https://doi.org/10.1016/j.gim.2022.04.006
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Montalvo, M., Nallapaneni, P., Hassan, S., Nurko, S., Pittock, S. J., & Khlevner, J. (2022). Autoimmune gastrointestinal dysmotility following SARS‐CoV‐2 infection successfully treated with intravenous immunoglobulin. Neurogastroenterology & Motility, 34(7). Portico. https://doi.org/10.1111/nmo.14314
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Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., … Schrauwen, I. (2021). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of Medical Genetics, 59(7), 669–677. https://doi.org/10.1136/jmedgenet-2021-107871
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Addo, O. Y., Mei, Z., Hod, E. A., Jefferds, M. E., Sharma, A. J., Flores-Ayala, R. C., Spitalnik, S. L., & Brittenham, G. M. (2022). Physiologically based serum ferritin thresholds for iron deficiency in women of reproductive age who are blood donors. Blood Advances, 6(12), 3661–3665. https://doi.org/10.1182/bloodadvances.2022007066
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Chokshi, B., Pukatch, C., Ramsey, N., Dzienny, A., & Smiley, Y. (2022). The Generational Trauma Card: A Tool to Educate on Intergenerational Trauma Transmission. Journal of Loss and Trauma, 28(5), 464–471. https://doi.org/10.1080/15325024.2022.2091315
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Schmitz, K. S., Lange, M. V., Gommers, L., Handrejk, K., Porter, D. P., Alabi, C. A., Moscona, A., Porotto, M., de Vries, R. D., & de Swart, R. L. (2022). Repurposing an In Vitro Measles Virus Dissemination Assay for Screening of Antiviral Compounds. Viruses, 14(6), 1186. https://doi.org/10.3390/v14061186
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Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195
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Patel, J. D., Mandhani, M., Gray, R., Pettus, J., McCracken, C. E., Thomas, A., Bauser-Heaton, H., Kim, D. W., & Petit, C. J. (2022). Transcatheter Recanalization of Atretic Pulmonary Veins in Infants and Children. Circulation: Cardiovascular Interventions, 15(6). https://doi.org/10.1161/circinterventions.121.011351
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DiLorenzo, M. P., Shah, A., Goldstone, A. B., Bacha, E. A., & Rosenzweig, E. B. (2022). Four-Dimensional Flow Imaging to Evaluate Shunt Flow in a Unidirectional Valved Potts Shunt. Circulation: Cardiovascular Imaging, 15(6). https://doi.org/10.1161/circimaging.122.014052
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James, S., McLanahan, S., & Brooks-Gunn, J. (2021). Contributions of the Fragile Families and Child Wellbeing Study to Child Development. Annual Review of Developmental Psychology, 3(1), 187–206. https://doi.org/10.1146/annurev-devpsych-050620-113832
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Botta, S., Chemiakine, A., & Gennarino, V. A. (2022). Dual antibody strategy for high-resolution imaging of murine Purkinje cells and their dendrites across multiple layers. STAR Protocols, 3(2), 101427. https://doi.org/10.1016/j.xpro.2022.101427
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Wang, Q., de Prisco, N., Tang, J., & Gennarino, V. A. (2022). Protocol for recording epileptiform discharges of EEG and behavioral seizures in freely moving mice. STAR Protocols, 3(2), 101245. https://doi.org/10.1016/j.xpro.2022.101245
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de Prisco, N., Chemiakine, A., Lee, W., Botta, S., & Gennarino, V. A. (2022). Protocol to assess the effect of disease-driving variants on mouse brain morphology and primary hippocampal neurons. STAR Protocols, 3(2), 101244. https://doi.org/10.1016/j.xpro.2022.101244
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Chernick, L. S., Konja, A., Gonzalez, A., Stockwell, M. S., Ehrhardt, A., Bakken, S., Westhoff, C. L., Dayan, P. S., & Santelli, J. (2022). Designing illustrative social media stories to promote adolescent peer support and healthy sexual behaviors. DIGITAL HEALTH, 8, 205520762211046. https://doi.org/10.1177/20552076221104660
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de Prisco, N., Botta, S., Lee, W., Rezazadeh, S., Chemiakine, A., & Gennarino, V. A. (2022). Determining the effects of loss of function mutations in human cell lines. STAR Protocols, 3(2), 101232. https://doi.org/10.1016/j.xpro.2022.101232
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Dawood, F. S., Varner, M., Tita, A., Newes-Adeyi, G., Gyamfi-Bannerman, C., Battarbee, A., Bruno, A., Daugherty, M., Reichle, L., Vorwaller, K., Vargas, C., Parks, M., Powers, E., Lucca-Susana, M., Gibson, M., Subramaniam, A., Cheng, Y. J., Feng, P.-J., Ellington, S., … Stockwell, M. S. (2021). Incidence and Clinical Characteristics of and Risk Factors for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Among Pregnant Individuals in the United States. Clinical Infectious Diseases, 74(12), 2218–2226. https://doi.org/10.1093/cid/ciab713
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Zhang, X., Lucas, A. M., Veturi, Y., Drivas, T. G., Bone, W. P., Verma, A., Chung, W. K., Crosslin, D., Denny, J. C., Hebbring, S., Jarvik, G. P., Kullo, I., Larson, E. B., Rasmussen-Torvik, L. J., Schaid, D. J., Smoller, J. W., Stanaway, I. B., Wei, W.-Q., Weng, C., & Ritchie, M. D. (2022). Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-30678-w
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Abbah, J., Vacher, C.-M., Goldstein, E. Z., Li, Z., Kundu, S., Talbot, B., Bhattacharya, S., Hashimoto-Torii, K., Wang, L., Banerjee, P., Scafidi, J., Smith, N. A., Chew, L.-J., & Gallo, V. (2022). Oxidative Stress-Induced Damage to the Developing Hippocampus Is Mediated by GSK3β. The Journal of Neuroscience, 42(24), 4812–4827. https://doi.org/10.1523/jneurosci.2389-21.2022
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Schmitz, K. S., Geers, D., de Vries, R. D., Bovier, T. F., Mykytyn, A. Z., Geurts van Kessel, C. H., Haagmans, B. L., Porotto, M., de Swart, R. L., & Moscona, A. (2022). Potency of Fusion-Inhibitory Lipopeptides against SARS-CoV-2 Variants of Concern. MBio, 13(3). https://doi.org/10.1128/mbio.01249-22
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Alvarez, S., da Silva Almeida, A. C., Albero, R., Biswas, M., Barreto-Galvez, A., Gunning, T. S., Shaikh, A., Aparicio, T., Wendorff, A., Piovan, E., Van Vlierberghe, P., Gygi, S., Gautier, J., Madireddy, A., & A. Ferrando, A. (2022). Functional mapping of PHF6 complexes in chromatin remodeling, replication dynamics, and DNA repair. Blood, 139(23), 3418–3429. https://doi.org/10.1182/blood.2021014103
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Chait, M., Yilmaz, M. M., Shakil, S., Ku, A. W., Dogra, P., Connors, T. J., Szabo, P. A., Gray, J. I., Wells, S. B., Kubota, M., Matsumoto, R., Poon, M. M. L., Snyder, M. E., Baldwin, M. R., Sims, P. A., Saqi, A., Farber, D. L., & Weisberg, S. P. (2022). Immune and epithelial determinants of age-related risk and alveolar injury in fatal COVID-19. JCI Insight, 7(11). https://doi.org/10.1172/jci.insight.157608
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Veguilla, V., Fowlkes, A. L., Bissonnette, A., Beitel, S., Gaglani, M., Porucznik, C. A., Stockwell, M. S., Tyner, H. L., Naleway, A. L., Yoon, S. K., Caban-Martinez, A. J., Wesley, M. G., Duque, J., Jeddy, Z., Stanford, J. B., Daugherty, M., Dixon, A., Burgess, J. L., Odean, M., … Meece, J. (2022). Detection and Stability of SARS-CoV-2 in Three Self-Collected Specimen Types: Flocked Midturbinate Swab (MTS) in Viral Transport Media, Foam MTS, and Saliva. Microbiology Spectrum, 10(3). https://doi.org/10.1128/spectrum.01033-22
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Appelbaum, P. S., Burke, W., Parens, E., Zeevi, D. A., Arbour, L., Garrison, N. A., Bonham, V. L., & Chung, W. K. (2022). Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? The American Journal of Human Genetics, 109(6), 981–988. https://doi.org/10.1016/j.ajhg.2022.04.012
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Barry, O. M., Bouhout, I., Turner, M. E., Petit, C. J., & Kalfa, D. M. (2022). Transcatheter Cardiac Interventions in the Newborn. Journal of the American College of Cardiology, 79(22), 2270–2283. https://doi.org/10.1016/j.jacc.2022.03.374
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Turner, M. E., Bouhout, I., Petit, C. J., & Kalfa, D. (2022). Transcatheter Closure of Atrial and Ventricular Septal Defects. Journal of the American College of Cardiology, 79(22), 2247–2258. https://doi.org/10.1016/j.jacc.2021.08.082
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Barry, O. M., Bouhout, I., Kodali, S. K., George, I., Rosenbaum, M. S., Petit, C. J., & Kalfa, D. (2022). Interventions for Congenital Atrioventricular Valve Dysfunction. Journal of the American College of Cardiology, 79(22), 2259–2269. https://doi.org/10.1016/j.jacc.2021.08.083
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Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane‐Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D’Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., McKee, S., … Dyment, D. A. (2022). Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American Journal of Medical Genetics Part A, 188(6), 1667–1675. Portico. https://doi.org/10.1002/ajmg.a.62673
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Kernie, C. G., Wynn, J., Rosenbaum, A., de Voest, J., Galloway, S., Giordano, J., Stover, S., Westerfield, L., Gilmore, K., Wapner, R. J., Van den Veyver, I. B., Vora, N. L., Clifton, R. G., Caughey, A. B., & Chung, W. K. (2022). Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenatal Diagnosis, 42(7), 947–954. Portico. https://doi.org/10.1002/pd.6153
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Aravamuthan, B. R., Shusterman, M., Green Snyder, L., Lemmon, M. E., Bain, J. M., & Gross, P. (2022). Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers. Developmental Medicine & Child Neurology, 64(6), 723–733. Portico. https://doi.org/10.1111/dmcn.15164
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Whitaker, R. C., Dearth-Wesley, T., Herman, A. N., van Wingerden, A.-S. N., & Winn, D. W. (2022). Family Connection and Flourishing Among Adolescents in 26 Countries. Pediatrics, 149(6). https://doi.org/10.1542/peds.2021-055263
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Middelhoff, M., Valenti, G., Tomassoni, L., Ochiai, Y., Belin, B., Takahashi, R., Malagola, E., Nienhüser, H., Finlayson, M., Hayakawa, Y., Zamechek, L. B., Renz, B. W., Westphalen, C. B., Quante, M., Margolis, K. G., Sims, P. A., Laise, P., Califano, A., Rao, M., … Wang, T. C. (2022). Adult enteric Dclk1-positive glial and neuronal cells reveal distinct responses to acute intestinal injury. American Journal of Physiology-Gastrointestinal and Liver Physiology, 322(6), G583–G597. https://doi.org/10.1152/ajpgi.00244.2021
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Pemmaraju, N., Cuglievan, B., Lasky, J., Kheradpour, A., Hijiya, N., Stein, A. S., Meshinchi, S., Mullen, C., Angelucci, E., Vinti, L., Mughal, T. I., & Pawlowska, A. (2022). P521: TREATMENT OF BLASTIC PLASMACYTOID DENDRITIC CELL NEOPLASM IN PEDIATRIC PATIENTS WITH TAGRAXOFUSP, A CD123-TARGETED THERAPY. HemaSphere, 6, 420–421. https://doi.org/10.1097/01.hs9.0000844972.31512.dd
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Webster Carrion, A., Wei, H.-J., McQuillan, N., Tazhibi, M., Kokossis, D., Berg, X., Minns, H., Zhang, X., Zhang, Z., Wang, J., Fernandez, E. C., Jan, C.-I., Padilla, O., Gartrell, R. D., Becher, O., Jr, J. H. G., Pavisic, J., Szalontay, L., Konofagou, E. E., … Wu, C.-C. (2022). MODL-24. Focused ultrasound-mediated blood-brain barrier opening and panobinostat in a thalamic syngeneic murine DMG model is feasible and safe. Neuro-Oncology, 24(Supplement_1), i174–i174. https://doi.org/10.1093/neuonc/noac079.647
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Zafar, F., Allen, P., Bryant, R., Tweddell, J. S., Najm, H. K., Anderson, B. R., & Karamlou, T. (2022). A mapping algorithm for International Classification of Diseases 10th Revision codes for congenital heart surgery benchmark procedures. The Journal of Thoracic and Cardiovascular Surgery, 163(6), 2232–2239. https://doi.org/10.1016/j.jtcvs.2021.10.015
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McQuillan, N., Tazhibi, M., Wei, H.-J., Pouliopoulos, A., Bendau, E., Carrion, A. W., Berg, A., Kokossis, D., Zhang, X., Zhang, Z., Englander, Z., Yoh, N., Jan, C.-I., Gartrell, R. D., Garvin, J., Szalontay, L., Konofagou, E., Zacharoulis, S., & Wu, C.-C. (2022). MODL-25. Radiation and focused ultrasound–mediated blood–brain barrier opening for DMG: safety and feasibility of combinatorial therapy. Neuro-Oncology, 24(Supplement_1), i174–i174. https://doi.org/10.1093/neuonc/noac079.648
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Shu, C., Jaffe, A. E., Sabunciyan, S., Ji, H., Astemborski, J., Sun, J., Bakulski, K. M., Sosnowski, D. W., Mehta, S. H., Kirk, G. D., & Maher, B. S. (2022). Epigenome-wide association analyses of active injection drug use. Drug and Alcohol Dependence, 235, 109431. https://doi.org/10.1016/j.drugalcdep.2022.109431
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LeLeiko, N. S., Dorfzaun, S., & Picoraro, J. (2022). The Role of Diet, Nutrition, and Exercise in Preventing Disease. Pediatrics In Review, 43(6), 298–308. https://doi.org/10.1542/pir.2021-005174
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Glassman, M. E., Blanchet, K., Andresen, J., Lewis, R. A., & Rosenthal, S. L. (2022). Impact of Breastfeeding Support Services on Mothers’ Breastfeeding Experiences When Provided by an MD/IBCLC in the Pediatric Medical Home. Clinical Pediatrics, 61(5–6), 418–427. https://doi.org/10.1177/00099228221086375
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Ozdede, A., Guner, S., Ozcifci, G., Yurttas, B., Toker Dincer, Z., Atli, Z., Uygunoğlu, U., Durmaz, E., Uçar, D., Uğurlu, S., Saip, S., Tabak, F., Hamuryudan, V., & Seyahi, E. (2022). Safety of SARS-CoV-2 vaccination in patients with Behcet’s syndrome and familial Mediterranean fever: a cross-sectional comparative study on the effects of M-RNA based and inactivated vaccine. Rheumatology International, 42(6), 973–987. https://doi.org/10.1007/s00296-022-05119-y
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Deshpande, S. R., Zangwill, S. D., Kindel, S. J., Schroder, J. N., Bichell, D. P., Wigger, M. A., Richmond, M. E., Knecht, K. R., Pahl, E., Gaglianello, N. A., Mahle, W. T., Stamm, K. D., Simpson, P. M., Dasgupta, M., Zhang, L., North, P. E., Tomita‐Mitchell, A., & Mitchell, M. E. (2022). Relationship between donor fraction cell‐free DNA and clinical rejection in heart transplantation. Pediatric Transplantation, 26(4). Portico. https://doi.org/10.1111/petr.14264
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Welch, M. G., Grieve, P. G., Stark, R. I., Isler, J. R., Ludwig, R. J., Hane, A. A., Gong, A., Darilek, U., Austin, J., & Myers, M. M. (2022). Family nurture intervention increases term age forebrain EEG activity: A multicenter replication trial. Clinical Neurophysiology, 138, 52–60. https://doi.org/10.1016/j.clinph.2022.02.018
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Rosenzweig, E. B., Bates, A., Mullen, M. P., Abman, S. H., Austin, E. D., Everett, A., Fineman, J., Feinstein, J., Hopper, R. K., Kinsella, J. P., Krishnan, U. S., Lu, M., Mandl, K. D., Raj, J. U., Varghese, N., Yung, D., Handler, S. S., & Sleeper, L. A. (2022). Cardiac Catheterization and Hemodynamics in a Multicenter Cohort of Children with Pulmonary Hypertension. Annals of the American Thoracic Society, 19(6), 1000–1012. https://doi.org/10.1513/annalsats.202108-998oc
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Shuffrey, L. C., Firestein, M. R., Kyle, M. H., Fields, A., Alcántara, C., Amso, D., Austin, J., Bain, J. M., Barbosa, J., Bence, M., Bianco, C., Fernández, C. R., Goldman, S., Gyamfi-Bannerman, C., Hott, V., Hu, Y., Hussain, M., Factor-Litvak, P., Lucchini, M., … Dumitriu, D. (2022). Association of Birth During the COVID-19 Pandemic With Neurodevelopmental Status at 6 Months in Infants With and Without In Utero Exposure to Maternal SARS-CoV-2 Infection. JAMA Pediatrics, 176(6), e215563. https://doi.org/10.1001/jamapediatrics.2021.5563
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Zacharoulis, S., Szalontay, L., CreveCoeur, T., Neira, J., Higgins, D., Englander, Z., Spinazzi, E., Sethi, C., Canoll, P., Garvin, J., Zylber, R., Damment, S., Zamoryakhin, D., Maddocks, A., Feldstein, N., & Bruce, J. (2022). DDEL-07. A Phase I study examining the feasibility of intermittent convection-enhanced delivery (CED) of MTX110 for the treatment of children with newly diagnosed diffuse midline gliomas (DMGs). Neuro-Oncology, 24(Supplement_1), i35–i35. https://doi.org/10.1093/neuonc/noac079.128
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Besagar, S., Robles, P. L. A., Rojas, C., Kneifati-Hayek, J. Z., Asadourian, P., Tong, W., Kosber, R., Applebaum, J. R., Albanese, C., Goffman, D., & Adelman, J. S. (2022). “What’s in a name?” Identification of newborn infants at birth using their given names. Journal of Perinatology, 42(6), 752–755. https://doi.org/10.1038/s41372-021-01270-9
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Genecin, I., Fullwood, D., Moisander-Joyce, H., Padilla, O., Minns, H., Garvin, J., Szalontay, L., Wu, C.-C., Kahn, J., & Gartrell, R. D. (2022). EPID-07. Outcome disparities in children, adolescents and young adults with medulloblastoma: A population-based analysis. Neuro-Oncology, 24(Supplement_1), i48–i48. https://doi.org/10.1093/neuonc/noac079.175
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