Last Posted: Sep 16, 2021
- Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Porras Antonio R et al. The Lancet. Digital health 2021
- Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021
- The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Marwaha Ashish et al. American journal of medical genetics. Part A 2021 Feb
- Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar Meenakshi et al. Indian pediatrics 2021 Jan 58(1) 30-33
- Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan Zuhair N et al. Circulation. Genomic and precision medicine 2020 Sep
- Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
Alhumaid Muhned S et al. Acta haematologica 2020 Jun 1-11
- [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May
- Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Hoss Sara et al. Circulation. Genomic and precision medicine 2020 Mar
- [Clinical practice guidelines for Noonan syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 324-328
- Phenotype delineation of ZNF462 related syndrome.
Kruszka Paul et al. American journal of medical genetics. Part A 2019 Jul
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.