Cairbre Fanslow on Muck Rack

Cairbre Fanslow

As seen in: The American Journal of Human Genetics, medRxiv
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Cairbre

Contact Cairbre, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Identification of de novo variants from parent-proband duos via long-read sequencing

|
By Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Sami Belhadj, Bojan Losic, John Harting, Krista Bluske, Jonathan LoTempio, Huda B Al-Kouatly, Rachid Karam, William J Rowell, Changrui Xiao, Eric Vilain, Seth Berger, Primo Baybayan
| The American Journal of Human Genetics Verified
Keywords de novo variants Mendelian disease long-read sequencing HiFi sequencing Introduction De novo variants, which are present in affected probands but not (constitutively) present in the parents, underlie a substantial fraction of Mendelian disorders.1,2,3,4,5,6 These disorders are typically highly penetrant and are often encountered as cases of severely affected probands with unaffected parents.
Open in Who Shared Issue with article?

Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencing

|
By William J Rowell, Christine Lambert, Vianey Ordonez Labastida, Cairbre Fanslow
| medRxiv
The authors have declared no competing interest. This study did not receive any funding I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
Open in Who Shared View Duplicates (86) Issue with article?
See all 2 articles
 •  Privacy  •  Terms  •  Security and Legal  •   •   •   • 

© 2026 Muck Rack

SOC 2® Certified