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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 30, 2024
. (Total: 63724 Documents since 2012)
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What Is Marfan Syndrome?
Heidi M Connolly et al. JAMA 2023
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Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms.
Yu Huang et al. The EPMA journal 2023 14(1) 73-86
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The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Pollock Lily et al. Current rheumatology reports 2021 23(11) 81
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Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience.
Grossfeld Paul et al. Cardiology and cardiovascular medicine 2021 5(5) 545-550
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Role of Clinical Genetic Testing in the Management of Aortopathies.
Harris Stephanie L et al. Current cardiology reports 2021 Jan 23(2) 10
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Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study.
Kelleher Erin F et al. JMIR pediatrics and parenting 2020 Oct 3(2) e16367
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Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
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A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.
Yuan Ping et al. Journal of assisted reproduction and genetics 2020 Aug
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Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li Jiacheng et al. Science China. Life sciences 2019 Dec 62(12) 1630-1637
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Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases.
Thijssen Carlijn G E et al. Journal of genetic counseling 2020 Jun
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Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange Thomas et al. Genes 2020 May 11(5)
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Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.
Ritelli Marco et al. Genes 2020 May 11(5)
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Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
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Marfan syndrome: A therapeutic challenge for long-term care.
Wagner A H et al. Biochemical pharmacology 2019 16453-63
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Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
Warnink-Kavelaars Jessica et al. European journal of pediatrics 2019 Oct
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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
Gentilini Davide et al. PloS one 2019 14(9) e0222506
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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi Arash et al. Clinical genetics 2019 Sep
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CLINGEN Actionability Report for Marfan Syndrome - FBN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos Syndrome Type IV - COL3A1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
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Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin Linnea M et al. European journal of human genetics : EJHG 2019 Jun
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Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
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Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience.
Manchola-Linero Alejandra et al. Revista espanola de cardiologia (English ed.) 2018 Jul 71(7) 585-587
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For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177
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Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang Hang et al. Scientific reports 2016 633002
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Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Muiño-Mosquera Laura et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002039
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 30, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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