Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 3 (3) e242609 (Posted Mar 18, 2024 3PM)
Diagnosis and Management of Myotonic Dystrophy Type 1
J Hartman et al, JAMA March 11, 2024 (Posted Mar 11, 2024 2PM)
Spending on Targeted Therapies for Duchenne Muscular Dystrophy
L Bendicksen et al, JAMA, March 11, 2024 (Posted Mar 11, 2024 11AM)
Determining priority indicators of utility for genomic testing in rare disease: a Delphi study
Z Fehlberg et al, Genetics in Medicine, March 6, 2024 (Posted Mar 07, 2024 8AM)
Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
Deep Learning-Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome.
River Jiang et al. JAMA Cardiol 2024
Delivery of hereditary cancer genetics services to patients newly diagnosed with ovarian and endometrial cancers at three gynecologic oncology clinics in the USA, Brazil, and Mexico.
Erica M Bednar et al. Int J Gynecol Cancer 2024
Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease.
Vera Lúcia Duarte da Costa Mendes et al. Cien Saude Colet 2024 29(3) e06752023
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Trudi McDevitt et al. Eur J Hum Genet 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349
Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.
Xin Wang et al. Clin Genitourin Cancer 2024 102052
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Hoda Zakaria et al. Prenat Diagn 2024
The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
Patrick T Hangge et al. Ann Surg Oncol 2024
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About Rare Diseases PHGKB
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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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:Mar 18, 2024
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