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Gretchen MacCarrick

Johns Hopkins University

22

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458

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Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

2021 Molecular Genetics and Metabolism
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Phenotypic variability within and between Loeys-Dietz syndrome-spectrum disorders

2021 Molecular Genetics and Metabolism
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Toward precision medicine in vascular connective tissue disorders.

2021 American Journal of Medical Genetics Part A
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Association of sleep apnoea risk and aortic enlargement in Marfan syndrome.

2021 BMJ Open Respiratory Research
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Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

2021 Genetics in Medicine
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Accurate assignment of disease liability to genetic variants using only population data

2021 Genetics in Medicine
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Hereditary connective tissue disorders

2020
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Recruitment, retention, and adherence in a clinical trial: The Pediatric Heart Network's Marfan Trial experience.

2020 Clinical Trials
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Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome.

2020 BMC Gastroenterology
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Genetics and Precision Medicine

2019 Medical Clinics of North America
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