Primary Ciliary Dyskinesia
Last Posted: Sep 30, 2021
- Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway Gabrielle et al. BMC medical genomics 2021 14(1) 234
- Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guan Yuhong et al. Chest 2021 Feb
- Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?
Bañuls Lucía et al. Journal of clinical medicine 2020 Aug 9(8)
- An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May
- Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón Noelia et al. Archivos de bronconeumologia 2020 Apr
- A genomics approach to females with infertility and recurrent pregnancy loss.
Maddirevula Sateesh et al. Human genetics 2020 Mar
- Clinical Annotation Research Kit (CLARK): Computable Phenotyping Using Machine Learning.
Pfaff Emily R et al. JMIR medical informatics 2020 Jan 8(1) e16042
- Long-term Antibiotics Ease Symptoms of Genetic Lung Disorder
I Hein, Medscape, October 4, 2019
- 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
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Shapiro Adam J et al. Pediatric pulmonology 2015 Sep
HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
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