Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Joanna Kaplan"'
Autor:
Joanna Kaplan, Sarah Lehman, Mike Duvall, Molly Madden, Jessica Tolley, Natalie Hawryluk, Stephen Schlachter, Victor Rivas, Carina Jauregui, Amanda Crofton, Samantha Harris, Joshua Aaron Stern, Carlos L. del Rio, Alan Russell, Marc Evanchik
Publikováno v:
Journal of the American College of Cardiology. 81:349
Autor:
Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from
Externí odkaz:
https://doaj.org/article/8e0772a2bdbe41f584339b04b2c8e9ed
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Estimates of mutation rates differ between species. Here, Lindsay et al. perform side-by-side analyses of germline mutation rates using multi-sibling mouse and human pedigrees and find different mutation rates between species, also stratified by sex
Externí odkaz:
https://doaj.org/article/aa0dc48964e54ac386e118a6c152dd33