Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

2021 ◽  
Author(s):  
Yumi Enomoto ◽  
Takayuki Yokoi ◽  
Yoshinori Tsurusaki ◽  
Hiroaki Murakami ◽  
Makiko Tominaga ◽  
...  
PLoS ONE ◽  
2011 ◽  
Vol 6 (6) ◽  
pp. e21577 ◽  
Author(s):  
Adriana Renzoni ◽  
Diego O. Andrey ◽  
Ambre Jousselin ◽  
Christine Barras ◽  
Antoinette Monod ◽  
...  

2021 ◽  
Vol 31 (1) ◽  
Author(s):  
Farah Ghieh ◽  
Anne-Laure Barbotin ◽  
Clara Leroy ◽  
François Marcelli ◽  
Nelly Swierkowsky-Blanchard ◽  
...  

AbstractWhereas the initially strategy for the genetic analysis of male infertility was based on a candidate gene approach, the development of next-generation sequencing technologies (such as whole-exome sequencing (WES)) provides an opportunity to analyze many genes in a single procedure. In order to recommend WES or whole-genome sequencing (WGS) after genetic counselling, an objective evaluation of the current genetic screening strategy for male infertility is required, even if, at present, we have to take into consideration the complexity of such a procedure, not discussed in this commentary.


2015 ◽  
Vol 17 (5) ◽  
pp. 716-725 ◽  
Author(s):  
Marcela Kokes ◽  
Joe Dan Dunn ◽  
Joshua A. Granek ◽  
Bidong D. Nguyen ◽  
Jeffrey R. Barker ◽  
...  

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