Search Results - "Swarr, Daniel"
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Lung Endoderm Morphogenesis: Gasping for Form and Function
Published in Annual review of cell and developmental biology (13-11-2015)“…The respiratory endoderm develops from a small cluster of cells located on the ventral anterior foregut. This population of progenitors generates the myriad…”
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2
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes
Published in Genetics in medicine (01-05-2021)“…Purpose Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic…”
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3
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18
Published in The Journal of pediatrics (01-08-2022)“…To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care use for fetuses and infants with trisomy 13 (T13)…”
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4
Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development
Published in Genes & development (15-06-2014)“…Long noncoding RNAs (lncRNAs) are thought to play important roles in regulating gene transcription, but few have well-defined expression patterns or known…”
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Detection and impact of genetic disease in a level IV neonatal intensive care unit
Published in Journal of perinatology (01-05-2022)“…Objective To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care. Study design We divided 2703…”
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6
PRDM3/16 regulate chromatin accessibility required for NKX2-1 mediated alveolar epithelial differentiation and function
Published in Nature communications (16-09-2024)“…While the critical role of NKX2-1 and its transcriptional targets in lung morphogenesis and pulmonary epithelial cell differentiation is increasingly known,…”
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7
Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
Published in The Journal of pediatrics (01-10-2019)“…To investigate the prevalence of genetic disease and its economic impact in a level IV neonatal intensive care unit (NICU) by identifying and describing…”
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8
Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis
Published in American journal of perinatology (01-06-2017)“…Association studies of various gene variants in neonatal sepsis show conflicting results. We performed a systematic review of candidate gene association…”
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9
The long noncoding RNA Falcor regulates Foxa2 expression to maintain lung epithelial homeostasis and promote regeneration
Published in Genes & development (01-06-2019)“…Transcription factors (TFs) are dosage-sensitive master regulators of gene expression, with haploinsufficiency frequently leading to life-threatening disease…”
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10
Twin‐twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene‐environment interaction?
Published in Prenatal diagnosis (01-07-2023)“…We report a case of a twin‐twin transfusion syndrome (TTTS) recipient who, after successful fetoscopic surgery, developed a large pericardial effusion and…”
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Alveolar epithelial progenitor cells require Nkx2-1 to maintain progenitor-specific epigenomic state during lung homeostasis and regeneration
Published in Nature communications (19-12-2023)“…Lung epithelial regeneration after acute injury requires coordination cellular coordination to pattern the morphologically complex alveolar gas exchange…”
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Novel Molecular and Phenotypic Insights into Congenital Lung Malformations
Published in American journal of respiratory and critical care medicine (15-05-2018)“…Disruption of normal pulmonary development is a leading cause of morbidity and mortality in infants. Congenital lung malformations are a unique model to study…”
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13
Fate of the Residual Distal and Proximal Aorta After Acute Type A Dissection Repair Using a Contemporary Surgical Reconstruction Algorithm
Published in The Annals of thoracic surgery (01-12-2007)“…Background In this study, we evaluated the long-term results of our contemporary, standardized surgical management algorithm for repair of acute type A aortic…”
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14
PI3K signaling specifies proximal-distal fate by driving a developmental gene regulatory network in SOX9+ mouse lung progenitors
Published in eLife (17-08-2022)“…The tips of the developing respiratory buds are home to important progenitor cells marked by the expression of SOX9 and ID2. Early in embryonic development…”
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P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy
Published in Genetics in Medicine Open (2024)Get full text
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16
Preterm infant with diprosopus and holoprosencephaly
Published in Clinical case reports (01-12-2021)“…Diprosopus is an extremely rare congenital anomaly involving craniofacial duplication. The etiology and pathophysiology remain unknown, and no genetic…”
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Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015
Published in Annals of the American Thoracic Society (01-12-2016)“…Pediatric rare lung disease (PRLD) is a term that refers to a heterogeneous group of rare disorders in children. In recent years, this field has experienced…”
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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
Published in American journal of medical genetics. Part A (01-08-2013)“…Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth,…”
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Fetal maturation revealed by amniotic fluid cell-free transcriptome in rhesus macaques
Published in JCI insight (22-09-2022)“…Accurate estimate of fetal maturity could provide individualized guidance for delivery of complicated pregnancies. However, current methods are invasive, have…”
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Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome
Published in American journal of medical genetics. Part A (01-03-2013)“…Loss of function mutations in FREM1 have been demonstrated in Manitoba‐oculo‐tricho‐anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal…”
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