Author
Illumina (United Kingdom)
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
5 papers
Recent·Most cited
Alex Lipov, Manon Baudic, Pierre Lindenbaum…·Connie R. Bezzina
This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.
Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli…·Apichai Khongphatthanayothin
The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.
Agata Stodolna, Miao He, Mahesh Vasipalli…·Andrew David Beggs
The paper uses clinical-grade whole genome sequencing and 3' transcriptome analysis to identify targetable genomic alterations in colorectal cancer patients.
Xiao Chen, Alba Sanchis‐Juan, Courtney E. French…·Michael A. Eberle
This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.
Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw…·Michael A. Eberle
The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.