High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

2017 ◽  
Vol 92 (6) ◽  
pp. 594-605 ◽  
Author(s):  
Yoo-Mi Kim ◽  
Yun-Jin Lee ◽  
Jae Hong Park ◽  
Hyoung-Doo Lee ◽  
Chong Kun Cheon ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Growth Disorders ◽  
Targeted Exome Sequencing ◽  
High Diagnostic Yield

scholarly journals Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Aniko Sabo ◽  
David Murdock ◽  
Shannon Dugan ◽  
Qingchang Meng ◽  
Marie‐Claude Gingras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Community Based ◽  
High Diagnostic Yield

scholarly journals Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

2019 ◽  
Vol 10 ◽  
Author(s):  
Michelle Demos ◽  
Ilaria Guella ◽  
Conrado DeGuzman ◽  
Marna B. McKenzie ◽  
Sarah E. Buerki ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Diagnostic Yield ◽  
Targeted Exome Sequencing

scholarly journals Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

EP Europace ◽  
2015 ◽  
Vol 18 (6) ◽  
pp. 888-896 ◽  
Author(s):  
Laurence M. Nunn ◽  
Luis R. Lopes ◽  
Petros Syrris ◽  
Cian Murphy ◽  
Vincent Plagnol ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Molecular Autopsy ◽  
Targeted Exome Sequencing ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome

scholarly journals P.109 Diagnostic Yield of Targeted Exome Sequencing in West Syndrome

2021 ◽  
Vol 48 (s3) ◽  
pp. S50-S50
Author(s):  
M Parfyonov ◽  
I Guella ◽  
DM Evans ◽  
S Adam ◽  
C DeGuzman ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Genetic Heterogeneity ◽  
High Throughput Sequencing ◽  
De Novo ◽  
Diagnostic Yield ◽  
Genetic Diagnosis ◽  
West Syndrome ◽  
Global Developmental Delay ◽  
Targeted Exome Sequencing ◽  
Ion Proton

Background: West syndrome (WS) is characterized by the onset of epileptic spasms usually within the first year of life. Global developmental delay with/without regression is common. Advances in high-throughput sequencing have supported the genetic heterogeneity of this condition. To better understand the genetic causes of this disorder, we investigated the results of targeted exome sequencing in 29 patients with WS. Methods: Whole exome sequencing (WES) was performed on an Ion ProtonTM and variant reporting was restricted to sequences of 620 known epilepsy genes. Diagnostic yield and treatment impact are described for 29 patients with WS. Results: A definitely/likely diagnosis was made in 10 patients (34%), which included 10 different genes (ALG13, PAFAH1B1, SLC35A2, DYNC1H1, ADSL, DEPDC5, ARX, CDKL5, SCN8A, STXBP1) known to be associated with epilepsy or WS. Most variants were de novo dominant (X-linked/autosomal) except for ARX (X-linked recessive) and ADSL (autosomal recessive). 4 out of 10 (40%) had a genetic diagnosis with potential treatment implications. Conclusions: These results emphasize the genetic heterogeneity of WS. The high diagnostic yield, along with the significant genetic variability, and the potential for treatment impact, supports the early use of this testing in patients with unexplained WS.

scholarly journals High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

2015 ◽  
Vol 160 (2) ◽  
pp. 354-363.e9 ◽  
Author(s):  
Kristy Lee ◽  
Jonathan S. Berg ◽  
Laura Milko ◽  
Kristy Crooks ◽  
Mei Lu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Retinal Dystrophies ◽  
Whole Exome

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

2015 ◽  
Vol 134 (9) ◽  
pp. 967-980 ◽  
Author(s):  
Tarunashree Yavarna ◽  
Nader Al-Dewik ◽  
Mariam Al-Mureikhi ◽  
Rehab Ali ◽  
Fatma Al-Mesaifri ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Middle Eastern ◽  
Mendelian Disorders ◽  
High Diagnostic Yield ◽  
Clinical Exome Sequencing
Sign in / Sign up

Export Citation Format

Share Document