Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.33441
Abstract: Key Points Question What is the association between rates of genetic diagnosis and sociodemographic and clinical characteristics in children with sensorineural hearing loss, and how often are these diagnoses associated with changes in clinical management?… read more here.
Keywords: hearing; hearing loss; genetic diagnosis; cohort ... See more keywords
Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51201
Abstract: The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without… read more here.
Keywords: whole genome; long read; genetic diagnosis; read whole ... See more keywords
Assessment of attitudes towards the use of preimplantation genetic diagnosis in a single center in Riyadh, Saudi Arabia.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1713
Abstract: In this cross-sectional study, we assessed the attitudes of the general public in Saudi Arabia regarding both medical and non-medical applications of pre-implantation genetic diagnosis (PGD). The study was conducted in King Abdullah Specialist Children's… read more here.
Keywords: saudi arabia; saudi; towards use; attitudes towards ... See more keywords
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12218
Abstract: Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are… read more here.
Keywords: leigh syndrome; onset genetic; age; genetic diagnosis ... See more keywords
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6089
Abstract: The adoption of massively parallel short‐read DNA sequencing methods has greatly expanded the scope and availability of genetic testing for inherited diseases. Indeed, the power of these methods has encouraged the integration of whole genome… read more here.
Keywords: preimplantation genetic; diagnosis; genetic diagnosis; diagnosis long ... See more keywords
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6154
Abstract: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES). read more here.
Keywords: renal abnormalities; genetic diagnosis; ultrasound genetic; prenatal ultrasound ... See more keywords
Genetic diagnosis of immune dysregulation can lead to targeted therapy for interstitial lung disease: A case series and single center approach
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25924
Abstract: In recent years, a growing number of monogenic disorders have been described that are characterized by immune dysregulation. A subset of these “primary immune regulatory disorders” can cause severe interstitial lung disease, often recognized in… read more here.
Keywords: disease; immune dysregulation; genetic diagnosis; lung disease ... See more keywords
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-05953-9
Abstract: We aimed to investigate the genetic etiology of epilepsy in children, and to analyze the nature of genetic variation, the function of related genes, and the genotype-phenotype relationship. Moreover, the impact of the genetic diagnosis… read more here.
Keywords: prenatal diagnosis; genetic diagnosis; genetic analysis; pediatric epilepsy ... See more keywords
Genetic Diagnosis of Rare Diseases: Past and Present
Sign Up to like & getrecommendations! Published in 2020 at "Advances in Therapy"
DOI: 10.1007/s12325-019-01176-1
Abstract: Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical… read more here.
Keywords: diagnosis rare; diagnosis; rare diseases; genetic diagnosis ... See more keywords
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].
Sign Up to like & getrecommendations! Published in 2018 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2017.07.011
Abstract: BACKGROUND AND OBJECTIVE Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic… read more here.
Keywords: congenital anomalies; diagnosis; genetic diagnosis; comparative genomic ... See more keywords
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan.
Sign Up to like & getrecommendations! Published in 2021 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2021.03.035
Abstract: BACKGROUND AND AIMS We aimed to validate a nurse-led process using electronic health records to identify those at risk of familial hypercholesterolaemia (FH) for genetic diagnosis in primary care. METHODS Those at risk of FH… read more here.
Keywords: primary care; care; familial hypercholesterolaemia; genetic diagnosis ... See more keywords