0000000000089718

AUTHOR

Nicole Spychalski

showing 2 related works from this author

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

EmbryologyCandidate geneGene ExpressionTranscriptomeMiceDatabase and Informatics MethodsMedicine and Health SciencesExomeExomeExome sequencingGenetics0303 health sciencesMultidisciplinaryComputer-Aided Drug DesignQ030305 genetics & hereditySequence analysisRGenomicsCongenital AnomaliesDNA-Binding Proteinsembryonic structuresAmino Acid AnalysisMedicineTranscriptome AnalysisTracheoesophageal FistulaResearch ArticleDrug Research and DevelopmentBioinformaticsSequence analysisScienceIn silicoBiologyResearch and Analysis Methods03 medical and health sciencesExome SequencingGeneticsCongenital DisordersAnimalsHumansddc:610Molecular Biology TechniquesEsophageal AtresiaMolecular BiologyDNA sequence analysis030304 developmental biologyHomeodomain ProteinsPharmacologyMolecular Biology Assays and Analysis TechniquesGene Expression ProfilingEmbryosDNA HelicasesBiology and Life SciencesComputational BiologyEmbryo MammalianGenome AnalysisFANCBRepressor ProteinsGene expression profilingBiological DatabasesDrug DesignMutation DatabasesMutationDevelopmental Biology
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Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

2017

Background The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. Methods To detect further causative CNVs we perfor…

0301 basic medicineEmbryologymedicine.medical_specialtyPathologyHealth Toxicology and MutagenesisTracheoesophageal fistulaDisease030105 genetics & heredityToxicologydigestive systemGastroenterology03 medical and health sciencesInternal medicinemedicineIn patientCopy-number variationbusiness.industryKaryotypemedicine.diseaseVACTERL associationdigestive system diseases030104 developmental biologyAtresiaPediatrics Perinatology and Child HealthChromosomal regionbusinessDevelopmental BiologyBirth Defects Research
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