Concepedia

François‐Guillaume Debray

FD

Statistics

Publications

25

Citations

988

H-Index

18

Active since

2007

Affiliations

University of Liège(Current)

Inserm

Assistance Publique – Hôpitaux de Paris

Centre Hospitalier Universitaire de Liège

Hôpital Robert-Debré

François‐Guillaume Debray is an author at University of Liège specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

2007–2023

25

Publications

25

Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

François‐Guillaume Debray, Grant A. Mitchell, Pierre Allard et al. · Clinical Chemistry · 2007 · 127 citations · Full text

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 107 citations · Full text

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 98 citations · Full text

Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content

Nynke Simons, François‐Guillaume Debray, Nicolaas C. Schaper et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 52 citations · Full text

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