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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)
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Last data update: Mar 28, 2024
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Records 1 - 22 (of 22 Records)
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Craniosynostosis[original query]>>Original Studies[Product Type]
Assessing the Performance of the Clinician-Reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-Rater Reliability.
Robin Z Hayeems et al. Clin Ther 2023
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Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
T Delchev et al. Balkan journal of medical genetics : BJMG 2023 25(1) 19-24
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Quantifying the Severity of Metopic Craniosynostosis Using Unsupervised Machine Learning.
Erin E Anstadt et al. Plastic and reconstructive surgery 2023 151(2) 396-403
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Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech Ewelina et al. Frontiers in molecular biosciences 2022 9865494
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3D Photography to Quantify the Severity of Metopic Craniosynostosis.
Bruce Madeleine K et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022 10556656221087071
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Application of Deep Learning Techniques for Automated Diagnosis of Non-Syndromic Craniosynostosis Using Skull X-Ray.
Mizutani Katsuhiro et al. The Journal of craniofacial surgery 2022
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Machine Learning-Driven Clinical Image Analysis to Identify Craniosynostosis: A Pilot Study of Telemedicine and Clinic Patients.
Paro Mitch et al. Neurosurgery 2022
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Zerin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Z Hyder et al, Genet Med, August 25, 2021
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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Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos.
Javitt Matthew J et al. Eye (London, England) 2021
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne Elin et al. European journal of human genetics : EJHG 2020 Dec
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Machine Learning Applied to Registry Data: Development of a Patient-Specific Prediction Model for Blood Transfusion Requirements During Craniofacial Surgery Using the Pediatric Craniofacial Perioperative Registry Dataset.
Jalali Ali et al. Anesthesia and analgesia 2020 Jun
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Quantifying the Severity of Metopic Craniosynostosis: A Pilot Study Application of Machine Learning in Craniofacial Surgery.
Bhalodia Riddhish et al. The Journal of craniofacial surgery 2020 Jan
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NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa Alexandra et al. American journal of medical genetics. Part A 2019 Dec
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Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon Jihoon G et al. Neurosurgery 2019 Nov
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Comparison of an unsupervised machine learning algorithm and surgeon diagnosis in the clinical differentiation of metopic craniosynostosis and benign metopic ridge.
Cho Min-Jeong et al. Scientific reports 2018 8(1) 6312
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Phenotype delineation of ZNF462 related syndrome.
Kruszka Paul et al. American journal of medical genetics. Part A 2019 Jul
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb
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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee Eric et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec
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Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller Kerry A et al. Journal of medical genetics 2017 Apr 54(4) 260-268
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A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.
Phipps Julie et al. Journal of genetic counseling 2017 Mar
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 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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