Search Results - "MURRAY, Jeffrey C"
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Genetics of Nonsyndromic Orofacial Clefts
Published in The Cleft palate-craniofacial journal (01-01-2012)“…With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like…”
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Between-Hospital Variation in Treatment and Outcomes in Extremely Preterm Infants
Published in The New England journal of medicine (07-05-2015)“…Among hospitals in the NICHD Neonatal Research Network, rates of active treatment of infants born at 22 to 24 weeks of gestation varied substantially and…”
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Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
Published in American journal of human genetics (02-01-2014)“…Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and…”
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Late-Onset Sepsis in Very Low Birth Weight Infants from Singleton and Multiple-Gestation Births
Published in The Journal of pediatrics (01-06-2013)“…Objectives To describe and compare the incidence of late-onset sepsis (LOS) and demographic and clinical characteristics associated with LOS in very low birth…”
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Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios
Published in PLoS genetics (09-07-2021)“…Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts– the most common craniofacial birth defects in humans– are commonly categorized…”
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Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
Published in PLoS genetics (25-08-2016)“…Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the…”
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Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: A mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother-infant pairs
Published in PLoS medicine (01-08-2020)“…Many maternal traits are associated with a neonate's gestational duration, birth weight, and birth length. These birth outcomes are subsequently associated…”
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Noninvasive whole-genome sequencing of a human fetus
Published in Science translational medicine (06-06-2012)“…Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been…”
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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Published in American journal of human genetics (02-07-2020)“…Although de novo mutations (DNMs) are known to increase an individual’s risk of congenital defects, DNMs have not been fully explored regarding orofacial…”
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Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
Published in American journal of human genetics (05-03-2015)“…Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants…”
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Transcriptome landscape of the human placenta
Published in BMC genomics (27-03-2012)“…The placenta is a key component in understanding the physiological processes involved in pregnancy. Characterizing genes critical for placental function can…”
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Integrated Genomic Analyses in Bronchopulmonary Dysplasia
Published in The Journal of pediatrics (01-03-2015)“…Objective To identify single-nucleotide polymorphisms (SNPs) and pathways associated with bronchopulmonary dysplasia (BPD) because O2 requirement at 36 weeks'…”
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Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
Published in Nature genetics (01-11-2008)“…Nonsyndromic cleft lip with or without cleft palate has been associated with SNPs in the IRF6 gene. Now Jeff Murray and colleagues report the identification of…”
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Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts: A Danish Population-Based Cohort Study
Published in PloS one (25-05-2016)“…The aim of this study was to investigate the risk of psychiatric diagnoses in individuals with non-syndromic oral clefts (OC) compared with individuals without…”
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Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders
Published in Genesis (New York, N.Y. : 2000) (01-02-2021)“…Summary The chromodomain family member chromodomain 1 (CHD1) has been shown to have numerous critical molecular functions including transcriptional regulation,…”
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The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community
Published in The Cleft palate-craniofacial journal (01-11-2016)“…With the current widespread use of three-dimensional (3D) facial surface imaging in clinical and research environments, there is a growing demand for…”
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Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth
Published in Scientific reports (24-08-2021)“…Heat shock proteins are involved in the response to stress including activation of the immune response. Elevated circulating heat shock proteins are associated…”
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2013 Presidential Address: Just Another President’s Speech (but It’s All about You)
Published in American journal of human genetics (06-03-2014)Get full text
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Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 ( Irf6 )
Published in Nature genetics (01-11-2006)“…Transcription factor paralogs may share a common role in staged or overlapping expression in specific tissues, as in the Hox family. In other cases, family…”
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Rare variants analyses suggest novel cleft genes in the African population
Published in Scientific reports (20-06-2024)“…Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain…”
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