scholarly journals The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: a cohort study

2022 ◽  
Author(s):  
Rivka Sukenik‐Halevy ◽  
Sharon Perlman ◽  
Noa Ruhrman‐Shahar ◽  
Offra Engel ◽  
Naama Orenstein ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing

scholarly journals Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

2019 ◽  
Vol 28 (5) ◽  
pp. 587-596 ◽  
Author(s):  
Lilian Downie ◽  
◽  
Jane Halliday ◽  
Rachel Burt ◽  
Sebastian Lunke ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing ◽  
Hearing Impairment ◽  
Population Based ◽  
Congenital Hearing Impairment

scholarly journals Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet ◽  
2019 ◽  
Vol 393 (10173) ◽  
pp. 747-757 ◽  
Author(s):  
Jenny Lord ◽  
Dominic J McMullan ◽  
Ruth Y Eberhardt ◽  
Gabriele Rinck ◽  
Susan J Hamilton ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing ◽  
Sequencing Analysis ◽  
Structural Anomalies

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

The Lancet ◽  
2019 ◽  
Vol 393 (10173) ◽  
pp. 758-767 ◽  
Author(s):  
Slavé Petrovski ◽  
Vimla Aggarwal ◽  
Jessica L Giordano ◽  
Melissa Stosic ◽  
Karen Wou ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Whole Exome ◽  
Structural Anomalies

scholarly journals Relationships between the clinical phenotypes and genetic variants associated with the immunological mechanism in childhood idiopathic nephrotic syndrome: protocol for a prospective observational single-centre cohort study

BMJ Open ◽  
2019 ◽  
Vol 9 (8) ◽  
pp. e028717
Author(s):  
Han Chan ◽  
Hao Lee ◽  
Xia Yang ◽  
Jingzhi Wang ◽  
Xueying Yang ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Cohort Study ◽  
Exome Sequencing ◽  
Genetic Variants ◽  
Idiopathic Nephrotic Syndrome ◽  
Single Centre ◽  
Clinical Phenotypes ◽  
Whole Exome ◽  
Medical University ◽  
Frequent Relapse

IntroductionIdiopathic nephrotic syndrome (INS) is the most common glomerulopathy that results in childhood chronic kidney disease in China, but the relationships between different clinical phenotypes and immunological genetic variants observed in patients with INS are ambiguous and have not been well studied. A cohort study combined with whole exome sequencing might further identify the effects of immunological genetic variants on clinical phenotypes and treatment outcomes.Methods and analysisWe describe a 3 year prospective observational single-centre cohort study to be conducted in the Children’s Hospital of Chongqing Medical University in China. This study will recruit and investigate 336 patients with childhood-onset INS presenting with different clinical phenotypes. Whole exome sequencing will be conducted when patients progress to a confirmed clinical phenotype during follow-up. Relevant clinical and epidemiological data, as well as conventional specimens, will be collected at study entry and 1 month, 3 months, 6 months, 1 year, 2 years and 3 years after disease onset. After this cohort is generated, the immunological genetic variants of steroid-sensitive nephrotic syndrome without frequent relapse, steroid-resistant nephrotic syndrome and steroid-dependent/frequent relapse nephrotic syndrome will be evaluated.Ethics and disseminationThe study protocol is approved by Ethics Committee of Children’s Hospital of Chongqing Medical University (reference number 2018–140). The results will be disseminated through peer-reviewed journals and conference presentations.Trial registration numberChiCTR1800019795

Prospective Cohort Study for Identification of Underlying Genetic Causes in Neonatal Encephalopathy Using Whole-Exome Sequencing

2018 ◽  
Vol 73 (10) ◽  
pp. 564-565
Author(s):  
Theodora U. J. Bruun ◽  
Caro-Lyne DesRoches ◽  
Diane Wilson ◽  
Vann Chau ◽  
Tadashi Nakagawa ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Neonatal Encephalopathy ◽  
Genetic Causes ◽  
Whole Exome
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