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Category: Publications

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated PI3K Delta Syndrome.

February 6, 2025
Shapiro AJ, Wu EY, Morris-Rosendahl DJ, Olivier KN, Dell SD, Sagel SD, Dutmer CM, Mosquera RA, Rose M, O'Connor MG, Ma CA, Uzel G, Vece TJ, Zariwala MA, Knowles MR, Leigh MW, Davis SD, Ferkol TW. J Pediatr. 2025 Feb 6:114499. doi: 10.1016/ j.jpeds.2025.114499. Online ahead of print. PMID: 39922272.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

February 5, 2025
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T,...

Reducing global inequities in medical oxygen access: the Lancet Global Health Commission on medical oxygen security.

February 3, 2025
Graham HR, King C, Rahman AE, Kitutu FE, Greenslade L, Aqeel M, Baker T, de Magalhães Brito LF, Campbell H, Czischke K, English M, Falade AG, Garcia PJ, Gil M, Graham SM, Gray AZ, Howie SRC, Kissoon N, Laxminarayan R, Li Lin I, Lipnick MS, Lowe DB, Lowrance D, McCollum...

Secreted PD-L1 alleviates inflammatory arthritis in mice through local and systemic AAV gene therapy.

February 3, 2025
Li W, Sun J, Feng S, La Rosa A, Zhang P,  Wu EY,  Loeser R, Li C. Front Immunol. 2025 Feb 3;16:1527858. doi: 10.3389/fimmu.2025.1527858. eCollection 2025. PMID: 39963137.

Detection of an intestinal cell DNA methylation signature in blood samples from neonates with necrotizing enterocolitis.

February 2, 2025
Frazer L, Chu T, Shaw P, Boufford C, Naief LT, Ednie M, Ritzert L, Green CP, Good M, Peters D. Epigenomics. 2025 Mar;17(4):235-245. doi: 10.1080/17501911.2025.2459552. Epub 2025 Feb 2. PMID: 39894787.

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

February 1, 2025
Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Am J Med Genet...

Neonatal Morbidities, Neurodevelopmental Impairments, and Positive Health among Children Surviving Birth before 32 Weeks of Gestation.  

February 1, 2025
Logan JW, Tang X, Greenberg RG, Smith B, Jacobson L, Blackwell CK, Hudak M, Aschner JL, Lester B, O'Shea TM; Program Collaborators for Environmental Influences on Child Health Outcomes. J Pediatr. 2025 Feb;277:114376. PMID: 39481800.

Associations among positive child health measures in the environmental influences on child health outcomes (ECHO) cohort.

February 1, 2025
Taylor GL, Burjak M, Ray D, Blackwell CK, Santos HP, Ganiban J, Dunlop AL, Elliott AJ, Aschner JL, Stroustrup A, Bekelman TA, Barone C, Camargo CA Jr, McEvoy CT, Tung I, Schweitzer JB, Herbstman J, Wright RO, Wright RJ, Akinkugbe AA, Kelly RS, Hartert TV, Patterson BL, Bendixsen C, Cassidy-Bushrow AE, O'Shea...

Association Between Neighborhood Context and Psychotropic Polypharmacy Use Among High-Need Children.

February 1, 2025
Thomas KC, Annis IE, deJong NA, Christian RB, Davis SA, Hughes PM, Prichard BA, Prichard JR, Allen PS, Gettinger JS, Morris DN, Eaker KB. Psychiatr Serv. 2025 Feb 1;76(2):139-148. doi: 10.1176/appi.ps.20230639. Epub 2024 Sep 11. PMID: 39257315.

The intergenerational metabolic-cardiovascular life course: maternal body mass index (BMI), offspring BMI, and blood pressure of adolescents born extremely preterm.

February 1, 2025
Sanderson K, Oran A, Singh R, Gogcu S, Perrin EM, Washburn L, Zhabotynsky V, South AM, Jensen ET, Fry RC, O'Shea TM. Pediatr Nephrol. 2025 Feb;40(2):463-472. doi: 10.1007/s00467-024-06523-1. Epub 2024 Sep 24.PMID: 39316152.