Charge Syndrome
What's New
Last Posted: Aug 12, 2021
- Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021 - Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun - Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin Evgeny N et al. Clinical genetics 2020 May - Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016 - 22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen Jennifer L et al. American journal of medical genetics. Part A 2018 176(10) 2203-2214 - 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 - Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738 - Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.
Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar - Clinical utility gene card for: CHARGE syndrome - update 2015.
- Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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