Last Posted: Sep 10, 2020
- Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan Zuhair N et al. Circulation. Genomic and precision medicine 2020 Sep
- Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar Meenakshi et al. Indian pediatrics 2020 Aug
- Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
Alhumaid Muhned S et al. Acta haematologica 2020 Jun 1-11
- [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May
- Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Hoss Sara et al. Circulation. Genomic and precision medicine 2020 Mar
- [Clinical practice guidelines for Noonan syndrome].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 324-328
- Phenotype delineation of ZNF462 related syndrome.
Kruszka Paul et al. American journal of medical genetics. Part A 2019 Jul
- Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Yang Lulu et al. BMC medical genetics 2018 19(1) 212
- Molecular Genetics of Noonan Syndrome and RASopathies.
Liao Jun et al. Pediatric endocrinology reviews : PER 2019 May 16(Suppl 2) 435-446
- The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh Ai-Ling et al. Molecular genetics & genomic medicine 2019 Feb e581
- Identifying facial phenotypes of genetic disorders using deep learning.
Gurovich Yaron, et al. Nature medicine 2019 1 0. (1) 60-64
- Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
Anderson Kailyn et al. Congenital heart disease 2018 Dec
- Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Leung Gordon K C et al. BMC medical genomics 2018 Oct 11(1) 93
- NHGRI researchers and collaborators identify Noonan syndrome in diverse people
Highly accurate facial analysis software aids diagnosis
Jeannine Mjoseth, NHGRI, Sep 15, 2017
- Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90
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 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.