Latest publications Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes; Mar 24, 2025; pubmed:40127276. View Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes on PubMed Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease; Mar 23, 2025; pubmed:40121807. View Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease on PubMed Recessive genetic contribution to congenital heart disease in 5,424 probands; Mar 3, 2025; pubmed:40030011. View Recessive genetic contribution to congenital heart disease in 5,424 probands on PubMed Modeling <em>SMAD2</em> Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis; Mar 3, 2025; pubmed:40028843. View Modeling <em>SMAD2</em> Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis on PubMed Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact; Jan 29, 2025; pubmed:39877905. View Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact on PubMed Detection of neurologic changes in critically ill infants using deep learning on video data: a retrospective single center cohort study; Jan 7, 2025; pubmed:39764545. View Detection of neurologic changes in critically ill infants using deep learning on video data: a retrospective single center cohort study on PubMed A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases; Dec 20, 2024; pubmed:39705610. View A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases on PubMed Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study; Dec 19, 2024; pubmed:39700446. View Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study on PubMed Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes; Dec 2, 2024; pubmed:39622807. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes on PubMed Placental-Heart Axis: An Evolutionary Perspective; Oct 26, 2024; pubmed:39456993. View Placental-Heart Axis: An Evolutionary Perspective on PubMed Lifespan health with congenital heart disease: Considering cancer-associated mortality; Sep 27, 2024; pubmed:39327641. View Lifespan health with congenital heart disease: Considering cancer-associated mortality on PubMed Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease; Aug 31, 2024; pubmed:39215461. View Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease on PubMed Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease; Aug 29, 2024; pubmed:39208926. View Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease on PubMed A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation; Aug 28, 2024; pubmed:39196112. View A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation on PubMed Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure; Jul 5, 2024; pubmed:38968977. View Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure on PubMed The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease; Jun 26, 2024; pubmed:38921669. View The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease on PubMed Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types; Jun 5, 2024; pubmed:38836834. View Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types on PubMed Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes; Jun 3, 2024; pubmed:38828726. View Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes on PubMed Who Still Gets Ligated? Reasons for Persistence of Surgical Ligation of the Patent Ductus Arteriosus Following Availability of Transcatheter Device Occlusion for Premature Neonates; May 24, 2024; pubmed:38786954. View Who Still Gets Ligated? Reasons for Persistence of Surgical Ligation of the Patent Ductus Arteriosus Following Availability of Transcatheter Device Occlusion for Premature Neonates on PubMed Accurate prediction of neurologic changes in critically ill infants using pose AI; May 3, 2024; pubmed:38699362. View Accurate prediction of neurologic changes in critically ill infants using pose AI on PubMed Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit; Mar 19, 2024; pubmed:38499751. View Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit on PubMed Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease; Feb 20, 2024; pubmed:38378865. View Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease on PubMed Association of genetic and sulcal traits with executive function in congenital heart disease; Nov 27, 2023; pubmed:38009418. View Association of genetic and sulcal traits with executive function in congenital heart disease on PubMed Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot; Oct 16, 2023; pubmed:37840956. View Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot on PubMed Human <em>Paenibacillus</em> Infections: A Systematic Review with Comparison of Adult and Infant Cases; Oct 4, 2023; pubmed:37790370. View Human <em>Paenibacillus</em> Infections: A Systematic Review with Comparison of Adult and Infant Cases on PubMed Association of cerebral metabolic rate following therapeutic hypothermia with 18-month neurodevelopmental outcomes after neonatal hypoxic ischemic encephalopathy; Jul 1, 2023; pubmed:37392599. View Association of cerebral metabolic rate following therapeutic hypothermia with 18-month neurodevelopmental outcomes after neonatal hypoxic ischemic encephalopathy on PubMed Paenibacillus spp infection among infants with postinfectious hydrocephalus in Uganda: an observational case-control study; Jun 22, 2023; pubmed:37348522. View Paenibacillus spp infection among infants with postinfectious hydrocephalus in Uganda: an observational case-control study on PubMed Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases; Jun 12, 2023; pubmed:37305724. View Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases on PubMed Neonatal Paenibacilliosis: Paenibacillus Infection as a Novel Cause of Sepsis in Term Neonates With High Risk of Sequelae in Uganda; Jun 6, 2023; pubmed:37279589. View Neonatal Paenibacilliosis: Paenibacillus Infection as a Novel Cause of Sepsis in Term Neonates With High Risk of Sequelae in Uganda on PubMed Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization; May 13, 2023; pubmed:37179381. View Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization on PubMed Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease; May 11, 2023; pubmed:37165897. View Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease on PubMed Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study; Feb 21, 2023; pubmed:36803080. View Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study on PubMed Tethered cord syndrome in KBG syndrome; Feb 1, 2023; pubmed:36722669. View Tethered cord syndrome in KBG syndrome on PubMed Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease; Jan 26, 2023; pubmed:36701153. View Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease on PubMed Type IV Pili Are a Critical Virulence Factor in Clinical Isolates of Paenibacillus thiaminolyticus; Nov 14, 2022; pubmed:36374038. View Type IV Pili Are a Critical Virulence Factor in Clinical Isolates of Paenibacillus thiaminolyticus on PubMed The Genetics of Neurodevelopment in Congenital Heart Disease; Oct 2, 2022; pubmed:36183910. View The Genetics of Neurodevelopment in Congenital Heart Disease on PubMed Fetal Disseminated Malignant Rhabdoid Tumor; Jul 31, 2022; pubmed:35909108. View Fetal Disseminated Malignant Rhabdoid Tumor on PubMed A Role for Data Science in Precision Nutrition and Early Brain Development; Jul 11, 2022; pubmed:35815018. View A Role for Data Science in Precision Nutrition and Early Brain Development on PubMed Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term; Jun 16, 2022; pubmed:35707545. View Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term on PubMed mirTarRnaSeq: An R/Bioconductor Statistical Package for miRNA-mRNA Target Identification and Interaction Analysis; Jun 13, 2022; pubmed:35698050. View mirTarRnaSeq: An R/Bioconductor Statistical Package for miRNA-mRNA Target Identification and Interaction Analysis on PubMed Increased Breastfeeding Proportion Is Associated with Improved Gross Motor Skills at 3-5 Years of Age: A Pilot Study; Jun 10, 2022; pubmed:35684014. View Increased Breastfeeding Proportion Is Associated with Improved Gross Motor Skills at 3-5 Years of Age: A Pilot Study on PubMed An ancient founder mutation located between <em>ROBO1</em> and <em>ROBO2</em> is responsible for increased microtia risk in Amerindigenous populations; May 18, 2022; pubmed:35584116. View An ancient founder mutation located between <em>ROBO1</em> and <em>ROBO2</em> is responsible for increased microtia risk in Amerindigenous populations on PubMed Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk; Apr 9, 2022; pubmed:35397206. View Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk on PubMed Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review; Mar 7, 2022; pubmed:35254387. View Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review on PubMed Transcription factor protein interactomes reveal genetic determinants in heart disease; Feb 19, 2022; pubmed:35182466. View Transcription factor protein interactomes reveal genetic determinants in heart disease on PubMed Training pathways and careers for neonatologists interested in cardiovascular care; Feb 19, 2022; pubmed:35181763. View Training pathways and careers for neonatologists interested in cardiovascular care on PubMed Cytomegalovirus infections in infants in Uganda: Newborn-mother pairs, neonates with sepsis, and infants with hydrocephalus; Feb 12, 2022; pubmed:35150915. View Cytomegalovirus infections in infants in Uganda: Newborn-mother pairs, neonates with sepsis, and infants with hydrocephalus on PubMed Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity; Feb 7, 2022; pubmed:35130025. View Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity on PubMed Assessment of Maternal Macular Pigment Optical Density (MPOD) as a Potential Marker for Dietary Carotenoid Intake during Lactation in Humans; Jan 11, 2022; pubmed:35011057. View Assessment of Maternal Macular Pigment Optical Density (MPOD) as a Potential Marker for Dietary Carotenoid Intake during Lactation in Humans on PubMed Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU; Oct 6, 2021; pubmed:34610948. View Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU on PubMed Genomic frontiers in congenital heart disease; Jul 17, 2021; pubmed:34272501. View Genomic frontiers in congenital heart disease on PubMed Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot; May 19, 2021; pubmed:34009260. View Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot on PubMed Quantification of magnetic resonance spectroscopy data using a combined reference: Application in typically developing infants; Apr 29, 2021; pubmed:33913194. View Quantification of magnetic resonance spectroscopy data using a combined reference: Application in typically developing infants on PubMed Immune activation during <em>Paenibacillus</em> brain infection in African infants with frequent cytomegalovirus co-infection; Apr 29, 2021; pubmed:33912816. View Immune activation during <em>Paenibacillus</em> brain infection in African infants with frequent cytomegalovirus co-infection on PubMed microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy; Apr 3, 2021; pubmed:33799993. View microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy on PubMed Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles; Nov 20, 2020; pubmed:33216750. View Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles on PubMed Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease; Oct 21, 2020; pubmed:33084842. View Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease on PubMed <em>GATA6</em> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm; Oct 15, 2020; pubmed:33054971. View <em>GATA6</em> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm on PubMed <em>Paenibacillus</em> infection with frequent viral coinfection contributes to postinfectious hydrocephalus in Ugandan infants; Oct 1, 2020; pubmed:32998967. View <em>Paenibacillus</em> infection with frequent viral coinfection contributes to postinfectious hydrocephalus in Ugandan infants on PubMed Association of nucleated red blood cell count with mortality among neonatal intensive care unit patients; Aug 11, 2020; pubmed:32771363. View Association of nucleated red blood cell count with mortality among neonatal intensive care unit patients on PubMed Genomic analyses implicate noncoding de novo variants in congenital heart disease; Jul 1, 2020; pubmed:32601476. View Genomic analyses implicate noncoding de novo variants in congenital heart disease on PubMed Screening With Reticulocyte Hemoglobin Increased Iron Sufficiency Among NICU Patients; May 20, 2020; pubmed:32426625. View Screening With Reticulocyte Hemoglobin Increased Iron Sufficiency Among NICU Patients on PubMed Congenital Heart Defects Due to <em>TAF1</em> Missense Variants; May 13, 2020; pubmed:32396742. View Congenital Heart Defects Due to <em>TAF1</em> Missense Variants on PubMed EM-mosaic detects mosaic point mutations that contribute to congenital heart disease; May 1, 2020; pubmed:32349777. View EM-mosaic detects mosaic point mutations that contribute to congenital heart disease on PubMed Psychosocial Stress and Adversity: Effects from the Perinatal Period to Adulthood; Dec 4, 2019; pubmed:31792156. View Psychosocial Stress and Adversity: Effects from the Perinatal Period to Adulthood on PubMed Maternal Dietary Intake of Omega-3 Fatty Acids Correlates Positively with Regional Brain Volumes in 1-Month-Old Term Infants; Nov 12, 2019; pubmed:31711132. View Maternal Dietary Intake of Omega-3 Fatty Acids Correlates Positively with Regional Brain Volumes in 1-Month-Old Term Infants on PubMed Paternal-age-related de novo mutations and risk for five disorders; Jul 12, 2019; pubmed:31292440. View Paternal-age-related de novo mutations and risk for five disorders on PubMed Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease; Jun 20, 2019; pubmed:31216004. View Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease on PubMed ORE identifies extreme expression effects enriched for rare variants; Mar 24, 2019; pubmed:30903145. View ORE identifies extreme expression effects enriched for rare variants on PubMed Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation; Feb 2, 2019; pubmed:30707697. View Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation on PubMed Response to Brodehl et al; Sep 29, 2018; pubmed:30262924. View Response to Brodehl et al on PubMed Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect; Aug 12, 2018; pubmed:30098192. View Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect on PubMed Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy; Jul 3, 2018; pubmed:29961767. View Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy on PubMed Reducing time to initiation and advancement of enteral feeding in an all-referral neonatal intensive care unit; May 10, 2018; pubmed:29740193. View Reducing time to initiation and advancement of enteral feeding in an all-referral neonatal intensive care unit on PubMed Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death; Sep 16, 2017; pubmed:28911200. View Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death on PubMed <em>AIFM1</em> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant; Mar 17, 2017; pubmed:28299359. View <em>AIFM1</em> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant on PubMed Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Nov 19, 2016; pubmed:27858371. View Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants on PubMed Fetal Physiology and the Transition to Extrauterine Life; Aug 16, 2016; pubmed:27524443. View Fetal Physiology and the Transition to Extrauterine Life on PubMed Separating Putative Pathogens from Background Contamination with Principal Orthogonal Decomposition: Evidence for Leptospira in the Ugandan Neonatal Septisome; Jul 6, 2016; pubmed:27379237. View Separating Putative Pathogens from Background Contamination with Principal Orthogonal Decomposition: Evidence for Leptospira in the Ugandan Neonatal Septisome on PubMed Treatment options for apnoea of prematurity; Mar 25, 2016; pubmed:27010019. View Treatment options for apnoea of prematurity on PubMed Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration; Apr 16, 2015; pubmed:25874796. View Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration on PubMed miR-145 and miR-143 regulate smooth muscle cell fate and plasticity; Jul 7, 2009; pubmed:19578358. View miR-145 and miR-143 regulate smooth muscle cell fate and plasticity on PubMed microRNA-138 modulates cardiac patterning during embryonic development; Nov 14, 2008; pubmed:19004786. View microRNA-138 modulates cardiac patterning during embryonic development on PubMed miR-126 regulates angiogenic signaling and vascular integrity; Aug 13, 2008; pubmed:18694566. View miR-126 regulates angiogenic signaling and vascular integrity on PubMed Thioredoxin is required for S-nitrosation of procaspase-3 and the inhibition of apoptosis in Jurkat cells; Jul 4, 2007; pubmed:17606900. View Thioredoxin is required for S-nitrosation of procaspase-3 and the inhibition of apoptosis in Jurkat cells on PubMed Maternal mortality and the consequences on infant and child survival in rural Haiti; Feb 1, 2007; pubmed:17265193. View Maternal mortality and the consequences on infant and child survival in rural Haiti on PubMed Design and characterization of an active site selective caspase-3 transnitrosating agent; Dec 16, 2006; pubmed:17168570. View Design and characterization of an active site selective caspase-3 transnitrosating agent on PubMed Show All Publications Show Fewer Publications