Last Posted: Sep 17, 2020
- Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.
Fjermestad Krister W et al. Molecular genetics & genomic medicine 2020 Sep e1399
- Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung Heejong et al. Molecular genetics & genomic medicine 2020 Aug e1400
- Cognitive functioning and pain interference mediate pain predictive effects on health-related quality of life in pediatric patients with Neurofibromatosis Type 1.
Varni James W et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 Aug
- Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats Catherine A et al. European journal of medical genetics 2020 Aug 104042
- Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Pemov Alexander et al. Scientific reports 2020 Jul 10(1) 12563
- Neurofibromatosis type I: Points to be considered by general pediatricians.
Kang Eungu et al. Clinical and experimental pediatrics 2020 Jul
- Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun
- Encouraging News for Kids with Neurofibromatosis Type 1
NIH Director's Blog, March 24, 2020
- Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.
Avery Robert A et al. Ophthalmology 2017 124(1) 123-132
- Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos Elisabeth et al. Clinical genetics 2019 Oct
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.