Markers of successful extubation in extremely preterm infants, and morbidity after failed extubation

S Chawla, G Natarajan, S Shankaran, B Carper… - The Journal of …, 2017 - Elsevier
Objectives To identify variables associated with successful elective extubation, and to
determine neonatal morbidities associated with extubation failure in extremely preterm …

Blood cytokine profiles associated with distinct patterns of bronchopulmonary dysplasia among extremely low birth weight infants

CT D'Angio, N Ambalavanan, WA Carlo… - The Journal of …, 2016 - Elsevier
Objective To explore differences in blood cytokine profiles among distinct
bronchopulmonary dysplasia (BPD) patterns. Study design We evaluated blood spots …

Impact of optimized breastfeeding on the costs of necrotizing enterocolitis in extremely low birthweight infants

TT Colaizy, MC Bartick, BJ Jegier, BD Green… - The Journal of …, 2016 - Elsevier
Objective To estimate risk of necrotizing enterocolitis (NEC) for extremely low birth weight
(ELBW) infants as a function of preterm formula (PF) and maternal milk intake and calculate …

Patterns of oxygenation, mortality, and growth status in the surfactant positive pressure and oxygen trial cohort

JM Di Fiore, RJ Martin, H Li, N Morris, WA Carlo… - The Journal of …, 2017 - Elsevier
Objective To characterize actual achieved patterns of oxygenation in infants born
appropriate vs small for gestational age (SGA) randomized to a lower (85-89%) vs higher …

[HTML][HTML] Umbilical venous catheterization and the risk of portal vein thrombosis

DS Schwartz, PA Gettner, MM Konstantino… - The Journal of …, 1997 - Elsevier
Portal vein thrombosis has been associated with umbilical venous catheterization. We
studied the incidence of portal vein thrombosis associated with umbilical venous …

Association between use of prophylactic indomethacin and the risk for bronchopulmonary dysplasia in extremely preterm infants

EA Jensen, KC Dysart, MG Gantz, B Carper… - The Journal of …, 2017 - Elsevier
Objective To assess the association between prophylactic indomethacin and
bronchopulmonary dysplasia (BPD) in a recent, large cohort of extremely preterm infants …

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

AG Sega, EK Mis, K Lindstrom… - Journal of Medical …, 2019 - jmg.bmj.com
Background Early infantile epileptic encephalopathies are severe disorders consisting of
early-onset refractory seizures accompanied often by significant developmental delay. The …

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

L Jeffries, H Shima, W Ji… - American journal of …, 2018 - Wiley Online Library
Germline gain‐of‐function variants in SAMD9 have been associated with a high risk of
mortality and a newly recognized constellation of symptoms described by the acronym …

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

R Alharatani, A Ververi… - Human molecular …, 2020 - academic.oup.com
CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions,
including the maintenance of cell–cell junctions, regulation of the epithelial-mesenchymal …

A retrospective cohort analysis of the Yale pediatric genomics discovery program

S Al‐Ali, L Jeffries, EVS Faustino, W Ji… - American Journal of …, 2022 - Wiley Online Library
Abstract The Pediatric Genomics Discovery Program (PGDP) at Yale uses next‐generation
sequencing (NGS) and translational research to evaluate complex patients with a wide …