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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 18, 2024
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Records 1 - 9 (of 9 Records)
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Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
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Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.
Karpen Saul J et al. Journal of pediatric gastroenterology and nutrition 2021
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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Rajagopalan Ramakrishnan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
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Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis.
Shiau Henry et al. Hepatology communications 2020 Oct 4(10) 1516-1526
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Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro Emanuele et al. The Journal of pediatrics 2019 21154-62.e4
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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar
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Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
Ohashi Kei et al. Acta paediatrica (Oslo, Norway : 1992) 2017 Nov 106(11) 1817-1824
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Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar
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Clinical utility gene card for: Alagille Syndrome (ALGS).
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 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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