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Article

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

International journal of obesity (2005) - 1 Jul 2025

Künzel Robert, Faust Helene, Bundalian Linnaeus, Blüher Matthias, Jasaszwili Mariami, Kirstein Anna, Kobelt Albrecht, Körner Antje, Popp Denny, Wenzel Eric, Jamra Rami Abou, Lemke Johannes R, Schöneberg Torsten, Stein Robert, Garten Antje, Le Duc Diana

Abstract excerpt

BACKGROUND/OBJECTIVES: Obesity poses a major public health concern. Although BMI heritability is estimated at 40-80%, genetic diagnostics remain challenging. This study aims to (i) assess the diagnostic yield of monogenic obesity in a large patient sample using exome-wide data, (ii) identify predictors to improve genetic testing criteria, and (iii) evaluate whether the identified genes are included in public...

Topics

Humans
Obesity
Male
Female
Genetic Testing
Child
Adult
Adolescent
Exome
Middle Aged
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Exome Sequencing

Body Mass Index

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40523925
DOI: 10.1038/s41366-025-01819-0
PMCID: PMC12283394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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