Last Posted: Jul 07, 2020
- [Challenges of screening germline predispositions in children].
Manabe Atsushi et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2020 61(6) 682-686
- Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang Ruixue et al. Italian journal of pediatrics 2020 Apr 46(1) 55
- Diagnosis and Management of Beckwith-Wiedemann Syndrome.
Wang Kathleen H et al. Frontiers in pediatrics 2019 7562
- Clinical epigenetics: a primer for the practitioner.
Aygun Deniz et al. Developmental medicine and child neurology 2019 Nov
- An eHealth Decision-Support Tool to Prioritize Referral Practices for Genetic Evaluation of Patients with Wilms Tumour.
Cullinan Noelle et al. International journal of cancer 2019 Jul
- Updates on progress in cancer screening for children with hereditary cancer predisposition syndromes.
Rednam Surya P et al. Current opinion in pediatrics 2018 Dec
- CLINGEN Actionability Report for Wilms tumor-WT1
ClinGen Actionability Working Group
- Know your NGS test before you order it
TGMI, June 21, 2018
- [Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].
Elbracht Miriam et al. Klinische Padiatrie 2018 Apr
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude Frédéric et al. Nature reviews. Endocrinology 2018 Jan
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.