François‐Guillaume Debray

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 · 133 citations · Full text

Life Sciences, Child Health, Pediatrics +17

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

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 113 citations · Full text

Life Sciences, Genetics, Immunology +17

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 · 109 citations · Full text

Medicine, Ophthalmology, Psychiatry +12

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 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen et al. · Biological Psychiatry · 2018 · 91 citations · Full text

Life Sciences, Genetics, Neuroscience +17