Last Posted: Mar 10, 2022
- 3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Barua Subit et al. Molecular cytogenetics 2022 15(1) 7
- A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked Ben et al. Scientific reports 2021 11(1) 19099
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Nevado Julián et al. Frontiers in genetics 2021 12645595
- Molecular Genetics of Microcephaly Primary Hereditary: An Overview.
Siskos Nikistratos et al. Brain sciences 2021 11(5)
- Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park Jong Eun et al. Orphanet journal of rare diseases 2021 16(1) 166
- Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin Liling et al. Orphanet journal of rare diseases 2020 Nov 15(1) 317
- Classification of the interictal state with hypsarrhythmia from Zika Virus Congenital Syndrome and of the ictal state from epilepsy in childhood without hypsarrhythmia in EEGs using entropy measures.
Rocha Priscila L et al. Computers in biology and medicine 2020 Sep 126104014
- A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh Shereen G et al. European journal of human genetics : EJHG 2020 Sep
- Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Link Nichole et al. Developmental cell 2019 Nov
- Discovery of ?hidden? outbreak hints that Zika virus can spread silently
Scripps Research, August 22, 2019
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181
- Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rabin Rachel et al. American journal of medical genetics. Part A 2019 Jul
- Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh Joanne et al. Journal of neurodevelopmental disorders 2019 Jun 11(1) 11
- Zika Birth Defects Surveillance
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
- Paediatricians underuse recommended genetic tests in children with global developmental delay.
Tremblay Isabelle et al. Paediatrics & child health 2018 Dec 23(8) e156-e162
- Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes A Micheil et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Dec 178(4) 387-397
- Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
- Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
Lallar Meenakshi et al. Indian pediatrics 2018 55(6) 474-477
- CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
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.