Department of Developmental Biology
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Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
Human molecular genetics Jul, 2015 | Pubmed ID: 25877302
Establishing normative nasal nitric oxide values in infants.
Respiratory medicine Sep, 2015 | Pubmed ID: 26233707
Automated identification of abnormal respiratory ciliary motion in nasal biopsies.
Science translational medicine Aug, 2015 | Pubmed ID: 26246169
Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.
Biology open Feb, 2016 | Pubmed ID: 26883626
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease.
The Journal of pediatrics Nov, 2016 | Pubmed ID: 27574995
Cilia and Ciliopathies in Congenital Heart Disease.
Cold Spring Harbor perspectives in biology Aug, 2017 | Pubmed ID: 28159874
Reply.
The Journal of pediatrics Jun, 2017 | Pubmed ID: 28283257
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.
JCI insight Mar, 2017 | Pubmed ID: 28289722
The complex genetics of hypoplastic left heart syndrome.
Nature genetics Jul, 2017 | Pubmed ID: 28530678
Phenotyping cardiac and structural birth defects in fetal and newborn mice.
Birth defects research Jun, 2017 | Pubmed ID: 28544620
Diverse application of MRI for mouse phenotyping.
Birth defects research Jun, 2017 | Pubmed ID: 28544650
Loss of function in is associated with tetralogy of Fallot and septal defects.
Journal of medical genetics Dec, 2017 | Pubmed ID: 28592524
Airway ciliary dysfunction: Association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients.
The Journal of thoracic and cardiovascular surgery 02, 2018 | Pubmed ID: 29056267
Low Nasal NO in Congenital Heart Disease With Systemic Right Ventricle and Postcardiac Transplantation.
Journal of the American Heart Association Dec, 2017 | Pubmed ID: 29212650
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.
PloS one , 2018 | Pubmed ID: 29444099
Wdpcp promotes epicardial EMT and epicardium-derived cell migration to facilitate coronary artery remodeling.
Science signaling Feb, 2018 | Pubmed ID: 29487191
The Genetic Landscape of Hypoplastic Left Heart Syndrome.
Pediatric cardiology Aug, 2018 | Pubmed ID: 29569026
A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks.
NeuroImage Sep, 2018 | Pubmed ID: 29793060
Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.
Frontiers in pediatrics , 2018 | Pubmed ID: 29963541
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Genome biology 07, 2018 | Pubmed ID: 30012220
Vertebrate myosin 1d regulates left-right organizer morphogenesis and laterality.
Nature communications Aug, 2018 | Pubmed ID: 30139971
Cardiac Targeting Peptide, a Novel Cardiac Vector: Studies in Bio-Distribution, Imaging Application, and Mechanism of Transduction.
Biomolecules 11, 2018 | Pubmed ID: 30441852
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'.
Nature genetics Feb, 2019 | Pubmed ID: 30617253
Deposition studies of aerosol delivery by nasal cannula to infants.
Pediatric pulmonology Aug, 2019 | Pubmed ID: 30932345
Left-right patterning in congenital heart disease beyond heterotaxy.
American journal of medical genetics. Part C, Seminars in medical genetics Mar, 2020 | Pubmed ID: 31999049
Role of cilia in the pathogenesis of congenital heart disease.
Seminars in cell & developmental biology Feb, 2021 | Pubmed ID: 32418658
Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening.
Communications biology Jun, 2020 | Pubmed ID: 32546759
Rapid Ex-Vivo Ciliogenesis and Dose-Dependent Effect of Notch Inhibition on Ciliogenesis of Respiratory Epithelia.
Biomolecules Aug, 2020 | Pubmed ID: 32823934
A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development.
Developmental cell Nov, 2020 | Pubmed ID: 32966817
Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer's disease, aging and other neuropsychiatric processes.
Scientific reports Sep, 2020 | Pubmed ID: 32973177
Differential effect of anesthetics on mucociliary clearance in vivo in mice.
Scientific reports , | Pubmed ID: 33649513
Mucociliary Clearance Scans Show Infants Undergoing Congenital Cardiac Surgery Have Poor Airway Clearance Function.
Frontiers in cardiovascular medicine , 2021 | Pubmed ID: 33969015
Cardiovascular Development and Congenital Heart Disease Modeling in the Pig.
Journal of the American Heart Association Jul, 2021 | Pubmed ID: 34219463
Mechanisms of Impaired Lung Development and Ciliation in Mannosidase-1-Alpha-2 () Mutants.
Frontiers in physiology , 2021 | Pubmed ID: 34366878
Novel insights into the genetic landscape of congenital heart disease with systems genetics.
Progress in pediatric cardiology Sep, 2019 | Pubmed ID: 34404969
Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.
Development (Cambridge, England) Oct, 2021 | Pubmed ID: 34486668
Mitochondrial Respiration Defects in Single-Ventricle Congenital Heart Disease.
Frontiers in cardiovascular medicine , 2021 | Pubmed ID: 34631832
Relationships Between Regional Cerebral Blood Flow and Neurocognitive Outcomes in Children and Adolescents With Congenital Heart Disease.
Seminars in thoracic and cardiovascular surgery , 2022 | Pubmed ID: 34767938
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.
HGG advances Jul, 2021 | Pubmed ID: 34888534
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney international Feb, 2022 | Pubmed ID: 35227688
Genetic resiliency associated with dominant lethal mutation causing atrial septal defect with high heritability.
Cell reports. Medicine Feb, 2022 | Pubmed ID: 35243414
Cerebellar and Prefrontal Structures Associated With Executive Functioning in Pediatric Patients With Congenital Heart Defects.
Frontiers in neurology , 2022 | Pubmed ID: 35356449
Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease.
Cell stem cell May, 2022 | Pubmed ID: 35395180
Novel Protein-Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays.
Genes Apr, 2022 | Pubmed ID: 35456433
Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.
Genes Apr, 2022 | Pubmed ID: 35456442
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.
Acta neuropathologica Oct, 2022 | Pubmed ID: 35980457
Impaired Neurovascular Function Underlies Poor Neurocognitive Outcomes and Is Associated with Nitric Oxide Bioavailability in Congenital Heart Disease.
Metabolites Sep, 2022 | Pubmed ID: 36144286
Profiling development of abdominal organs in the pig.
Scientific reports Sep, 2022 | Pubmed ID: 36171243
Correction to: Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.
Acta neuropathologica Dec, 2022 | Pubmed ID: 36175669
Clinical factors associated with microstructural connectome related brain dysmaturation in term neonates with congenital heart disease.
Frontiers in neuroscience , 2022 | Pubmed ID: 36466162