Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom

The genetic architecture of FCS in the United Kingdom is complex, with a substantial proportion affected by non-<i>LPL</i> FCS-causing genes. It also displays a significant regional and ethnic variations.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103445
Citations
1
Primary Topic
Lipid metabolism and disorders
Type
article
Field-Weighted Citation Impact
1.39

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom

Handrean Soran, Natalie Forrester, Jaimini Cegla, Yee Teoh et al.
1 citations
Genetics in Medicine Open
Lipid metabolism and disorders
1.39
article

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom

Handrean Soran, Natalie Forrester, Jaimini Cegla, Yee Teoh, Robert A. Hegele, Michael Mansfield, Maryam Ferdousi, Bilal Bashir, Hannah Delaney, Jonathan Schofield, Sarah Marsh, Charlotte Dawson, Anthony S. Wierzbicki, Pankaj Gupta, D. Datta, Ahai Luvai, Anoushka Kamath, Paul Hamilton, Paul N. Durrington, Paul Downie, Jian Wang, C. E. Dent, Dawn O’Sullivan, Fiona Jenkinson, Deanna Mamood
article en
1 citations

Abstract

The genetic architecture of FCS in the United Kingdom is complex, with a substantial proportion affected by non-<i>LPL</i> FCS-causing genes. It also displays a significant regional and ethnic variations.

Genetics in Medicine OpenVol. 3
Western University (CA), Queen's University Belfast (GB), North Bristol NHS Trust (GB), University Hospitals Birmingham NHS Foundation Trust (GB), St Thomas' Hospital (GB), University of Aberdeen (GB), Leeds Teaching Hospitals NHS Trust (GB), Wrexham Maelor Hospital (GB), Royal Victoria Infirmary (GB), University Hospitals of Leicester NHS Trust (GB), Bristol Royal Infirmary (GB), University of Manchester (GB), Manchester University NHS Foundation Trust (GB), Sheffield Teaching Hospitals NHS Foundation Trust (GB), St. Thomas Hospital (CA), University Hospital Llandough (GB), Imperial College London (GB), University of Sulaimani (IQ)
National Institute for Health and Care Research, Manchester Biomedical Research Centre
Openalex Percentile: Top 17%
Lipid metabolism and disorders
1.39
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.