Last Posted: Nov 26, 2019
- Clinical epigenetics: a primer for the practitioner.
Aygun Deniz et al. Developmental medicine and child neurology 2019 Nov
- One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019
- Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Tazelaar Gijs H P, et al. Neurobiology of aging 2019 0 234.e9-234.e15
- A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
- Genetic variation of UBE3A is associated with schizotypy in a population of typical individuals.
Salminen Iiro, et al. Psychiatry research 2019 3 94-99
- Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
Liu Chang et al. Molecular cytogenetics 2019 127
- A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).
Grieco Joseph C et al. The patient 2018 Jul
- Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Petersen Andrea K et al. American journal of obstetrics and gynecology 2017 Oct
- Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions.
Martin Kimberly et al. Clinical genetics 2017 Jul
- Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
Isles Anthony R, et al. PLoS genetics 2016 5 (5) e1005993
- Genetic disorders associated with postnatal microcephaly.
Seltzer Laurie E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2014 Jun (2) 140-55
- Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
Liu Weiqiang, et al. Cytogenetic and genome research 2015 9 (1) 9-18
- Clinical utility gene card for: Angelman Syndrome.
- Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
van Blitterswijk Marka, et al. Neurobiology of aging 2014 10 (10) 2421.e13-7
- Etiological yield of SNP microarrays in idiopathic intellectual disability.
Utine G Eda, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2014 5 (3) 327-37
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
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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.