Last Posted: Sep 02, 2021
- 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
- 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
- Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos.
Javitt Matthew J et al. Eye (London, England) 2021
- Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.
Al-Namnam Nisreen Mohammed et al. Gene therapy 2021
- 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
- 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
- Apert syndrome: prenatal diagnosis challenge.
Vieira Catarina et al. BMJ case reports 2019 Dec 12(12)
- 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
- NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa Alexandra et al. American journal of medical genetics. Part A 2019 Dec
- Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon Jihoon G et al. Neurosurgery 2019 Nov
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 the CDC Office of Public Health Genomics 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.