Last Posted: Oct 24, 2023
- Artificial Intelligence Applications in Diagnosing and Managing Non-syndromic Craniosynostosis: A Comprehensive Review.
Amna Qamar et al. Cureus 2023 15(9) e45318
- 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
- Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
T Delchev et al. Balkan journal of medical genetics : BJMG 2023 25(1) 19-24
- Quantifying the Severity of Metopic Craniosynostosis Using Unsupervised Machine Learning.
Erin E Anstadt et al. Plastic and reconstructive surgery 2023 151(2) 396-403
- The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille Agnes et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022
- Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech Ewelina et al. Frontiers in molecular biosciences 2022 9865494
- 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
- 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
- Machine Learning-Driven Clinical Image Analysis to Identify Craniosynostosis: A Pilot Study of Telemedicine and Clinic Patients.
Paro Mitch et al. Neurosurgery 2022
- 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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Feb 27, 2024
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