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Author Details

Cecilia W Lo
University of Pittsburgh School of Medicine
1979
201
58
PMIDPaper TitleJournal TitlePublished Year
36865301<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humans.medRxiv2023
37572794Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.J Hepatol2023
37688563aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.Bioinformatics2023
37147909Insights into the genetic architecture of congenital heart disease from animal modeling.Zool Res2023
37333142Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects.bioRxiv2023
37131609Spatial transcriptome profiling uncovers metabolic regulation of left-right patterning.bioRxiv2023
37315079IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS Genet2023
36865301<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humans.medRxiv2023
37107705Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development.Genes (Basel)2023
36993377aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.bioRxiv2023
37034673Sin3a Associated Protein 130kDa, sap130, plays an evolutionary conserved role in zebrafish heart development.bioRxiv2023
37688563aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.Bioinformatics2023
37572794Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.J Hepatol2023
36993377aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.bioRxiv2023
37315079IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS Genet2023
37147909Insights into the genetic architecture of congenital heart disease from animal modeling.Zool Res2023
37107705Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development.Genes (Basel)2023
37034673Sin3a Associated Protein 130kDa, sap130, plays an evolutionary conserved role in zebrafish heart development.bioRxiv2023
37333142Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects.bioRxiv2023
37131609Spatial transcriptome profiling uncovers metabolic regulation of left-right patterning.bioRxiv2023
34767938Relationships Between Regional Cerebral Blood Flow and Neurocognitive Outcomes in Children and Adolescents With Congenital Heart Disease.Semin Thorac Cardiovasc Surg2022
35395180Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease.Cell Stem Cell2022
35456442Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.Genes (Basel)2022
35456433Novel Protein-Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays.Genes (Basel)2022
36175669Correction to: Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.Acta Neuropathol2022
36171243Profiling development of abdominal organs in the pig.Sci Rep2022
35503090Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development.Elife2022
36053093Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome.World J Pediatr Congenit Heart Surg2022
35980457Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.Acta Neuropathol2022
36591976A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse.J Vis Exp2022
35227688Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.Kidney Int2022
34767938Relationships Between Regional Cerebral Blood Flow and Neurocognitive Outcomes in Children and Adolescents With Congenital Heart Disease.Semin Thorac Cardiovasc Surg2022
35503090Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development.Elife2022
35395180Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease.Cell Stem Cell2022
35456442Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.Genes (Basel)2022
35456433Novel Protein-Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays.Genes (Basel)2022
36591976A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse.J Vis Exp2022
36175669Correction to: Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.Acta Neuropathol2022
36171243Profiling development of abdominal organs in the pig.Sci Rep2022
36053093Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome.World J Pediatr Congenit Heart Surg2022
35980457Flow blockage disrupts cilia-driven fluid transport in the epileptic brain.Acta Neuropathol2022
35227688Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.Kidney Int2022
32418658Role of cilia in the pathogenesis of congenital heart disease.Semin Cell Dev Biol2021
32418658Role of cilia in the pathogenesis of congenital heart disease.Semin Cell Dev Biol2021
33969015Mucociliary Clearance Scans Show Infants Undergoing Congenital Cardiac Surgery Have Poor Airway Clearance Function.Front Cardiovasc Med2021
34219463Cardiovascular Development and Congenital Heart Disease Modeling in the Pig.J Am Heart Assoc2021
33649513Differential effect of anesthetics on mucociliary clearance in vivo in mice.Sci Rep2021
34631832Mitochondrial Respiration Defects in Single-Ventricle Congenital Heart Disease.Front Cardiovasc Med2021
34390164Compatibility of a Thermoresponsive and Controlled Release System for Promoting Sinonasal Cilia Regeneration.Macromol Biosci2021
34888534Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.HGG Adv2021
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