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  • Noonan syndrome Noonan syndrome
    Roberts, Amy E, Dr; Allanson, Judith E, Prof; Tartaglia, Marco, PhD ... Lancet, 01/2013, Volume: 381, Issue: 9863
    Journal Article
    Peer reviewed
    Open access

    Summary Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal ...
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2.
  • The Congenital Heart Diseas... The Congenital Heart Disease Genetic Network Study: Cohort description
    Hoang, Thanh T; Goldmuntz, Elizabeth; Roberts, Amy E ... PloS one, 01/2018, Volume: 13, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. ...
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  • Noonan Syndrome: Clinical F... Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
    ROMANO, Alicia A; ALLANSON, Judith E; DAHLGREN, Jovanna ... Pediatrics (Evanston), 10/2010, Volume: 126, Issue: 4
    Journal Article
    Peer reviewed

    Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other ...
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4.
  • Development and maintenance... Development and maintenance of tendons and ligaments
    Bobzin, Lauren; Roberts, Ryan R; Chen, Hung-Jhen ... Development, 04/2021, Volume: 148, Issue: 8
    Journal Article
    Peer reviewed
    Open access

    Tendons and ligaments are fibrous connective tissues vital to the transmission of force and stabilization of the musculoskeletal system. Arising in precise regions of the embryo, tendons and ...
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  • Phenotypic Manifestations o... Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents
    DeWitt, Elizabeth S.; Chandler, Stephanie F.; Hylind, Robyn J. ... Journal of the American College of Cardiology, 07/2019, Volume: 74, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    Arrhythmogenic cardiomyopathy (ACM) is a variably penetrant disease increasingly identified in young patients. This study sought to describe the diverse phenotype, genotype, and outcomes in pediatric ...
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  • De novo mutations in histon... De novo mutations in histone-modifying genes in congenital heart disease
    Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko ... Nature, 06/2013, Volume: 498, Issue: 7453
    Journal Article
    Peer reviewed
    Open access

    Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo ...
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  • The current state of implem... The current state of implementation science in genomic medicine: opportunities for improvement
    Roberts, Megan C; Kennedy, Amy E; Chambers, David A ... Genetics in medicine, 08/2017, Volume: 19, Issue: 8
    Journal Article
    Peer reviewed
    Open access

    The objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine. We conducted a literature review using the Centers for Disease Control and ...
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  • De novo mutations in congen... De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
    Homsy, Jason; Zaidi, Samir; Shen, Yufeng ... Science, 12/2015, Volume: 350, Issue: 6265
    Journal Article
    Peer reviewed
    Open access

    Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD ...
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  • Copy Number Variation of th... Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
    Mlynarski, Elisabeth E.; Sheridan, Molly B.; Xie, Michael ... American journal of human genetics, 05/2015, Volume: 96, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial /DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% ...
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  • The Genetics of Neurodevelo... The Genetics of Neurodevelopment in Congenital Heart Disease
    Patt, Eli; Singhania, Asmita; Roberts, Amy E. ... Canadian journal of cardiology, February 2023, 2023-02-00, 20230201, Volume: 39, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Congenital heart disease (CHD) is the most common birth anomaly, affecting almost 1% of infants. Neurodevelopmental delay is the most common extracardiac feature in people with CHD. Many factors may ...
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