Welcome to our Publication Library

Explore a curated selection of recently published papers by members of our Working Group. These publications highlight key developments and insights across several important areas of research in familial hypercholesterolaemia (FH). We hope you find the collection both valuable and inspiring.

Webinar 2/2 on EAS Consensus Statement on FH in Children and Adolescents
Uma Ramaswami,Albert Wiegman,Tomas Freiberger
June 25, 2026 | Paediatric Lipid Working Group
Webinar 1/2 on EAS Consensus Statement on FH in Children and Adolescents
Jeanine Roeters van Lennep,Steve Humphries,Kirsten Holven
June 17, 2026 | Paediatric Lipid Working Group
What is new in EAS Consensus document on FH in children and adolescents?
Uma Ramaswami,Jeanine Roeters van Lennep
May 24, 2026 | Paediatric Lipid Working Group
Newborn Screening for FeFH and FoFH using dried blood spots
Amy L Peterson
May 1, 2026 | Screening for FH, Paediatric Lipid Working Group
Genetic Diagnosis of Familial Hypercholesterolemia in Residual Newborn Dried Blood Spots.
Amy L Peterson,Vanessa Horner,Michael R Lasarev,Xiao Zhang,Steve Humphries,Robert D Steiner,Megan Benoy,Jessica Tumolo,Patrice K Held,Xiangqiang Shao
October 29, 2025 | Screening for FH, Publication, Paediatric Lipid Working Group
Pregnancy and breastfeeding in FH
Kirsten Holven
October 17, 2025 | HoFH Awareness Day, Webinars on-demand, Paediatric Lipid Working Group
Universal paediatric screening for FH – pros & cons
Steve Humphries
October 17, 2025 | HoFH Awareness Day, Webinars on-demand, Paediatric Lipid Working Group
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double- Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial
Albert Wiegman,Amy L Peterson,Robert Hegele,Eric Bruckert,Anja Schweizer,Anastasia Lesogor,Yibo Wang,Joep Defesche
June 25, 2025 | Other, Paediatric Lipid Working Group
Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS).
Jan Kafol,Beatriz Miranda,Rok Sikonja,Jaka Sikonja,Albert Wiegman,Ana Margarida Medeiros,Ana Catarina Alves,Tomas Freiberger,Barbara Hutten,Matej Mlinarič,Tadej Battelino,Steve Humphries,Mafalda Bourbon,Urh Groselj
June 20, 2025 | Screening for FH, Publication, Paediatric Lipid Working Group
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Bethany Stafford-Smith,Morgan Daniel,Michelle Peter,Jana Gurasashvili,Rashida Baptiste,Xavier Bracke-Manzanares,Lamprini Georgiou,Adele Green-Armytage,Blanche Griffin,Bethany Lumborg,Ben Paternoster,Emma Smith,Meena Balasubramanian,Lucy Bownass,Paul Brennan,Ruth Cleaver,Virginia Clowes,Philandra Costello,Bianca DeSouza,Louise Dubois,Angela George,Elaine George,Rachel Harrison,Lara Hawkes,Steve Humphries,Alan Jones,Elizabeth A Jones,Alison Kraus,Deborah Holiday,Meriel McEntagart,Suresh Somarathi,Amy Taylor,Vishakha Tripathi,Stephen Morris,Lyn S Chitty,Melissa Hill
April 19, 2025 | Psychological impact of FH diagnosis, Publication, Paediatric Lipid Working Group