Last Posted: Aug 24, 2023
- CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte et al. Res Sq 2023
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59
- Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Tahira Batool et al. Journal of human genetics 2023
- SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Katharine Edgerley et al. American journal of medical genetics. Part A 2023
- BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Trine Tangeraas et al. Brain : a journal of neurology 2023
- International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood.
Hokken-Koelega Anita C S et al. Endocrine reviews 2023
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.
Bastos Giovanna Civitate et al. Genes 2022 13(12)
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano Giovanna Cantini et al. Journal of autism and developmental disorders 2022
- High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Freire Bruna Lucheze et al. American journal of medical genetics. Part A 2022
- Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh Maha et al. Case reports in genetics 2022 20229393042
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:Oct 1, 2023
- Page last updated:Dec 08, 2023
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