Last Posted: Aug 21, 2019
- Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Oldak Monika et al. Journal of translational medicine 2019 Aug 17(1) 269
- Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner.
Ringer Jonathan et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019 Jul
- Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rabin Rachel et al. American journal of medical genetics. Part A 2019 Jul
- Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo Christine et al. International journal of audiology 2019 Jul 1-17
- Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.
He Longxia et al. Scientific reports 2017 7(1) 11355
- Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501
- 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
- Genetic testing for congenital non-syndromic sensorineural hearing loss.
Raymond Mallory et al. International journal of pediatric otorhinolaryngology 2019 May 12468-75
- Predicting cochlear dead regions in patients with hearing loss through a machine learning-based approach: A preliminary study.
Chang Young-Soo et al. PloS one 2019 14(6) e0217790
- Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Y Sun et al, BMC Medical Genomics, May 2019
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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.
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