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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)
Rare Diseases
Last data update: May 20, 2024
. (Total: 63882 Documents since 2012)
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Records 1 - 12 (of 12 Records)
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Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 7(3) e242609
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DNA methylation signature classification of rare disorders using publicly available methylation data.
Mathis Hildonen et al. Clinical genetics 2023
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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby Kristen et al. American journal of medical genetics. Part A 2023
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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
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Kabuki syndrome: international consensus diagnostic criteria.
Adam Margaret P et al. Journal of medical genetics 2019 56(2) 89-95
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The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
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Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
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Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver Thomas W et al. Clinical endocrinology 2018 Aug
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Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018
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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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paderová J et al. Clinical genetics 2016 Sep 90(3) 230-7
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What Is New in Genetics of Congenital Heart Defects?
Digilio Maria Cristina et al. Frontiers in pediatrics 2016 4120
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 20, 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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