Holly Mabillard

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 3

Top Topics

Atomic Force Microscopy

Arterial Hypertension

Top Venues

Molecular genetics & genomic medicine

Proceedings of the National Academy of Sciences of the United States of America

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Mohamed S Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John Andrew Sayer
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome. Molecular genetics & genomic medicine (2023)
Eric Olinger, Pran Phakdeekitcharoen, Yasar K Caliskan, Sarah Orr, Holly Mabillard, Charles Pickles, Yincent Tse, Katrina Wood, null null, John Andrew Sayer
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A E Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G Fuster, Andreas David Kistler, Ian J Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, null null, Kai Uwe Eckardt, Anthony J Bleyer, Anna Köttgen, Peter J Conlon, Michael S Wiesener, John Andrew Sayer, Luca Rampoldi, Olivier Devuyst
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 119 (33) (2022)