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1. Full Text De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
by Jason Homsy and Samir Zaidi and Yufeng Shen and James S. Ware and Kaitlin E. Samocha and Konrad J. Karczewski and Steven R. DePalma and David McKean and Hiroko Wakimoto and Josh Gorham and Sheng Chih Jin and John Deanfield and Alessandro Giardini and George A. Porter and Richard Kim and Kaya Bilguvar and Francesc López-Giráldez and Irina Tikhonova and Shrikant Mane and Angela Romano-Adesman and Hongjian Qi and Badri Vardarajan and Lijiang Ma and Mark Daly and Amy E. Roberts and Mark W. Russell and Seema Mital and Jane W. Newburger and J. William Gaynor and Roger E. Breitbart and Ivan Iossifov and Michael Ronemus and Stephan J. Sanders and Jonathan R. Kaltman and Jonathan G. Seidman and Martina Brueckner and Bruce D. Gelb and Elizabeth Goldmuntz and Richard P. Lifton and Christine E. Seidman and Wendy K. Chung
Science (American Association for the Advancement of Science), ISSN 0036-8075, 12/2015, Volume 350, Issue 6265, pp. 1262 - 1266
REPORTS | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | RNA-Binding Proteins - genetics | Prognosis | Humans | RNA, Messenger - genetics | RNA Splicing Factors | Repressor Proteins - genetics | Brain - abnormalities | Brain - metabolism | Neurogenesis - genetics | Heart Defects, Congenital - genetics | Exome - genetics | Congenital Abnormalities - genetics | RNA Splicing - genetics | Heart Defects, Congenital - diagnosis | Transcription, Genetic | Mutation | Nervous System Malformations - genetics | Child | Congenital heart disease | Genetic disorders | Research | Gene expression | Analysis | Cardiovascular disease | Congenital diseases | Newborn babies | Index Medicus | Mutations | Brain | Genes | Congenital anomalies | Risk | Disabilities | Patients | Heart diseases
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2. Full Text Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
by Jin, Sheng Chih and Homsy, Jason and Zaidi, Samir and Lu, Qiongshi and Morton, Sarah and Depalma, Steven R and Zeng, Xue and Qi, Hongjian and Chang, Weni and Sierant, Michael C and Hung, Wei-Chien and Haider, Shozeb and Zhang, Junhui and Knight, James and Bjornson, Robert D and Castaldi, Christopher and Tikhonoa, Irina R and Bilguvar, Kaya and Mane, Shrikant M and Sanders, Stephan J and Mital, Seema and Russell, Mark W and Gaynor, J William and Deanfield, John and Giardini, Alessandro and Porter, George A and Srivastava, Deepak and Lo, Cecelia W and Shen, Yufeng and Watkins, W Scott and Yandell, Mark and Yost, H Joseph and Tristani-Firouzi, Martin and Newburger, Jane W and Roberts, Amy E and Kim, Richard and Zhao, Hongyu and Kaltman, Jonathan R and Goldmuntz, Elizabeth and Chung, Wendy K and Seidman, Jonathan G and Gelb, Bruce D and Seidman, Christine E and Lifton, Richard P and Brueckner, Martina
Nature genetics, ISSN 1061-4036, 11/2017, Volume 49, Issue 11, pp. 1593 - 1601
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Autistic Disorder - pathology | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Cardiac Myosins - genetics | Growth Differentiation Factor 1 - genetics | Humans | Heart Defects, Congenital - pathology | Myosin Heavy Chains - genetics | Male | Risk | Case-Control Studies | Exome | Heart Defects, Congenital - genetics | Homozygote | Pedigree | Adult | Female | Heterozygote | High-Throughput Nucleotide Sequencing | Mutation | Child | Vascular Endothelial Growth Factor Receptor-3 - genetics | Development and progression | Care and treatment | Congenital heart disease | Genetic aspects | Genetic variation | Health aspects | Tetralogy of Fallot | Heart | Pediatrics | Congenital diseases | Congenital defects | Accounting | Genes | Mortality | Genomics | Principal components analysis | Cardiovascular disease | Genomes | Birth defects | Statistical methods | Coronary artery disease | Datasets | Consortia | Autism | Offspring | Congenital anomalies | Bioinformatics | Heart diseases | Genotypes | Index Medicus
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3. Full Text De novo mutations in histone-modifying genes in congenital heart disease
by Zaidi, Samir and Choi, Murim and Wakimoto, Hiroko and Ma, Lijiang and Jiang, Jianming and Overton, John D and Romano-Adesman, Angela and Bjornson, Robert D and Breitbart, Roger E and Brown, Kerry K and Carriero, Nicholas J and Cheung, Yee Him and Deanfield, John and Depalma, Steve and Fakhro, Khalid A and Glessner, Joseph and Hakonarson, Hakon and Italia, Michael J and Kaltman, Jonathan R and Kaski, Juan and Kim, Richard and Kline, Jennie K and Lee, Teresa and Leipzig, Jeremy and Lopez, Alexander and Mane, Shrikant M and Mitchell, Laura E and Newburger, Jane W and Parfenov, Michael and Pe'Er, Itsik and Porter, George and Roberts, Amy E and Sachidanandam, Ravi and Sanders, Stephan J and Seiden, Howard S and State, Mathew W and Subramanian, Sailakshmi and Tikhonova, Irina R and Wang, Wei and Warburton, Dorothy and White, Peter S and Williams, Ismee A and Zhao, Hongyu and Seidman, Jonathan G and Brueckner, Martina and Chung, Wendy K and Gelb, Bruce D and Goldmuntz, Elizabeth and Seidman, Christine E and Lifton, Richard P
Nature (London), ISSN 0028-0836, 2013, Volume 498, Issue 7453, pp. 220 - 223
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene mutations | Analysis | Exome sequencing | Congenital heart disease | Genetic aspects | Comparative analysis | Identification and classification | Proteins | Confidence intervals | Autism | Ratios | Ontology | Pathogenesis | Genomics | Genetics | Mutation | Monte Carlo simulation | Index Medicus
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4. Full Text Assessing the cost-effectiveness of home automated external defibrillators for pediatric patients: Getting us closer to the truth
by Kaltman, Jonathan R
Heart rhythm, ISSN 1547-5271, 08/2020, Volume 17, Issue 8, pp. 1335 - 1336
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Index Medicus
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5. Full Text Are pediatric catheter ablation outcomes approaching a Pareto frontier?
by Kaltman, Jonathan R
Heart rhythm, ISSN 1547-5271, 01/2019, Volume 16, Issue 1, pp. 64 - 65
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Catheter Ablation | Registries | Child | Humans | Index Medicus
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6. Full Text A quantitative analysis of out-of-hospital pediatric and adolescent resuscitation quality – A report from the ROC epistry-cardiac arrest
by Sutton, Robert M and Case, Erin and Brown, Siobhan P and Atkins, Dianne L and Nadkarni, Vinay M and Kaltman, Jonathan and Callaway, Clifton and Idris, Ahamed and Nichol, Graham and Hutchison, Jamie and Drennan, Ian R and Austin, Michael and Daya, Mohamud and Cheskes, Sheldon and Nuttall, Jack and Herren, Heather and Christenson, James and Andrusiek, Dug and Vaillancourt, Christian and Menegazzi, James J and Rea, Thomas D and Berg, Robert A and on behalf of the ROC Investigators and ROC Investigators
Resuscitation, ISSN 0300-9572, 2015, Volume 93, pp. 150 - 157
Emergency | Pediatric | Cardiopulmonary resuscitation | Emergency medical services | Emergency Medicine | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | United States - epidemiology | Cardiopulmonary Resuscitation - adverse effects | Cardiopulmonary Resuscitation - methods | Out-of-Hospital Cardiac Arrest - epidemiology | Humans | Medical Records | Child, Preschool | Infant | Male | Thoracic Injuries - diagnosis | Quality Assurance, Health Care | Out-of-Hospital Cardiac Arrest - therapy | Outcome and Process Assessment (Health Care) | Cardiopulmonary Resuscitation - standards | Quality Improvement | Adolescent | Emergency Medical Services - standards | Female | Emergency Medical Services - methods | Child | Thoracic Injuries - etiology | Cohort Studies | Index Medicus
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7. Full Text Genomic analyses implicate noncoding de novo variants in congenital heart disease
by Richter, Felix and Morton, Sarah U and Kim, Seong Won and Kitaygorodsky, Alexander and Wasson, Lauren K and Chen, Kathleen M and Zhou, Jian and Qi, Hongjian J and Patel, Nihir and DePalma, Steven R and Parfenov, Michael and Homsy, Jason and Gorham, Joshua M and Manheimer, Kathryn B and Velinder, Matthew and Farrell, Andrew and Marth, Gabor and Schadt, Eric E and Kaltman, Jonathan R and Newburger, Jane W and Giardini, Alessandro and Goldmuntz, Elizabeth and Brueckner, Martina and Kim, Richard and Porter, George A and Bernstein, Daniel and Chung, Wendy K and Srivastava, Deepak and Tristani-Firouzi, Martin and Troyanskaya, Olga G and Dickel, Diane E and Shen, Yufeng and Seidman, Jonathan G and Seidman, Christine E and Gelb, Bruce D
Nature genetics, ISSN 1061-4036, 08/2020, Volume 52, Issue 8, pp. 769 - 777
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | RNA-Binding Proteins - genetics | Genetic Predisposition to Disease - genetics | Genomics | Heart - physiology | Humans | Middle Aged | Male | Open Reading Frames - genetics | RNA, Untranslated - genetics | Young Adult | Heart Defects, Congenital - genetics | Animals | Adolescent | Adult | Female | Genetic Variation - genetics | Mice | Transcription, Genetic - genetics | Genetic disorders | Genes | Development and progression | Genomes | Congenital heart disease | Neural networks | Cardiac patients | Nucleotide sequencing | Comparative analysis | Heart diseases | DNA sequencing | Protein binding | Heart | Visualization | Congenital diseases | Transcription | Cardiovascular disease | Ribonucleic acid--RNA | Coronary artery disease | Gene sequencing | Confidence intervals | Autism | Enhancers | Etiology | Cardiovascular diseases | Binding sites | Index Medicus
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8. Full Text Results of a Phase I/II Multi-Center Investigation of Udenafil in Adolescents after Fontan Palliation
by Goldberg, David J and Zak, Victor and Goldstein, Bryan H and Chen, Shan and Hamstra, Michelle S and Radojewski, Elizabeth A and Maunsell, Eileen and Mital, Seema and Menon, Shaji C and Schumacher, Kurt R and Payne, R. Mark and Stylianou, Mario and Kaltman, Jonathan R and deVries, Tina M and Yeager, James L and Paridon, Stephen M and Pediatric Heart Network Investigators and Pediat Heart Network Investigators
The American heart journal, ISSN 0002-8703, 2017, Volume 188, pp. 42 - 52
Cardiovascular | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Follow-Up Studies | Humans | Male | Phosphodiesterase 5 Inhibitors - pharmacokinetics | Heart Ventricles - diagnostic imaging | Dose-Response Relationship, Drug | Time Factors | Vascular Resistance - drug effects | Female | Echocardiography | Drug Administration Schedule | Pyrimidines - administration & dosage | Cardiac Output - drug effects | Phosphodiesterase 5 Inhibitors - administration & dosage | Treatment Outcome | Postoperative Care - methods | Sulfonamides - pharmacokinetics | Fontan Procedure | Heart Ventricles - abnormalities | Heart Ventricles - physiopathology | Adolescent | Pyrimidines - pharmacokinetics | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Heart Defects, Congenital - therapy | Pulmonary Circulation - drug effects | Sulfonamides - administration & dosage | Therapeutics | Clinical trials | Youth | Product development | Teenagers | Homeopathy | Materia medica and therapeutics | Heart | Short term | Headache | Plasma | Physical training | Syngeneic grafts | Palliation | Cardiovascular disease | Males | Dosage | Molecular weight | Mouth | Xenografts | Physiology | Safety | Adolescents | Drug therapy | Heart diseases | Drug dosages | Age | Heart failure | Effectiveness | Pulmonary arteries | Pharmacology | Adults | Cardiac output | Pharmacokinetics | Circulation | Index Medicus | Abridged Index Medicus | pharmacokinetics | heart failure | Fontan procedure
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9. Full Text Interstage mortality after the Norwood procedure: Results of the multicenter Single Ventricle Reconstruction trial
by Ghanayem, Nancy S., MD and Allen, Kerstin R and Tabbutt, Sarah, MD, PhD and Atz, Andrew M., MD and Clabby, Martha L., MD and Cooper, David S., MD and Eghtesady, Pirooz, MD and Frommelt, Peter C., MD and Gruber, Peter J., MD and Hill, Kevin D., MD and Kaltman, Jonathan R., MD and Laussen, Peter C., MBBS and Lewis, Alan B., MD and Lurito, Karen J., MD and Minich, L. LuAnn, MD and Ohye, Richard G., MD and Schonbeck, Julie V and Schwartz, Steven M., MD and Singh, Rakesh K., MD and Goldberg, Caren S., MD and Pediatric Heart Network Investigators and Pediatric Heart Network
The Journal of thoracic and cardiovascular surgery, ISSN 0022-5223, 2012, Volume 144, Issue 4, pp. 896 - 906
Cardiothoracic Surgery | Cardiac & Cardiovascular Systems | Respiratory System | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Surgery | Science & Technology | Cardiology. Vascular system | Heart | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Biological and medical sciences | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Medical sciences | Pneumology | Hypoplastic Left Heart Syndrome - mortality | Multivariate Analysis | Postoperative Complications - etiology | Prospective Studies | Infant Mortality | Norwood Procedures - adverse effects | Heart Defects, Congenital - surgery | Humans | Hypoplastic Left Heart Syndrome - surgery | Ventricular Function | Postoperative Complications - mortality | North America | Time Factors | Odds Ratio | Infant, Newborn | Risk Assessment | Risk Factors | Kaplan-Meier Estimate | Logistic Models | Treatment Outcome | Hypoplastic Left Heart Syndrome - physiopathology | Blalock-Taussig Procedure - adverse effects | Heart Ventricles - abnormalities | Blalock-Taussig Procedure - mortality | Heart Ventricles - physiopathology | Norwood Procedures - mortality | Heart Ventricles - surgery | Heart Defects, Congenital - mortality | Heart Defects, Congenital - physiopathology | Hemodynamics | Genetic disorders | Analysis | Children's hospitals | Mortality | Infants | Congenital heart disease | Health aspects | Index Medicus | Abridged Index Medicus
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10. Full Text Perspective on Congenital Heart Disease Research
by Kaltman, Jonathan R and Burns, Kristin M