| Fatal cervical myelopathy in a child with glutaric aciduria type 1 | Journal of inherited metabolic disease |  | | 2024 | 18 | 48 |
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| Maladies innées du métabolisme : un domaine pionnier de la médecine de précision | Revue médicale suisse | | | 2023 | 84 | 221 |
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| Plasma biomarkers for Alzheimer's disease: a field-test in a memory clinic | Journal of neurology, neurosurgery and psychiatry | | | 2023 | 274 | 288 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 194 |
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| Movement disorders in valine metabolism diseases caused by HIBCH and ECHS1 deficiencies | European journal of neurology |  | | 2022 | 76 | 0 |
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| Lipoprotein(a) levels are not independently associated with endogenous steroid hormone levels, in contrast to other non-genetic and genetic factors: the population-based SKIPOGH study | European heart journal | | | 2021 | 246 | 0 |
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| Abnormal results in common clinical laboratory assays: clues to diagnose rare inborn errors of metabolism? | | | | 2021 | 355 | 565 |
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| Changes of lipoprotein(a) levels with endogenous steroid hormones | European journal of clinical investigation | | | 2021 | 310 | 370 |
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| Undiagnosed phenylketonuria can exist everywhere : results from an international survey | The Journal of pediatrics | | | 2021 | 80 | 173 |
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| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics | | | 2020 | 418 | 1 |
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| Prognostic value of elevated lipoprotein(a) in patients with acute coronary syndromes | European Journal of Clinical Investigation | | | 2019 | 403 | 2 |
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| Parkinsonism is a Phenotypical Signature of Amyloidopathy in Patients with Gait Disorders | Journal of Alzheimer's Disease | | | 2018 | 552 | 1 |
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| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 551 | 2 |
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| L'interniste face aux maladies rares : quand y penser ? L'exemple des maladies mitochondriales | Revue médicale suisse | | | 2017 | 460 | 1 |
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| Fingerprinting of neurotoxic compounds using a mouse embryonic stem cell dual luminescence reporter assay | Archives of toxicology | | | 2017 | 705 | 502 |
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| Acute cortical deafness in a child with MELAS syndrome | Journal of Inherited Metabolic Disease | | | 2016 | 545 | 194 |
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| Erreurs innées du métabolisme: transition enfant-adulte | Revue médicale suisse | | | 2015 | 622 | 2 |
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| Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report | Neuropediatrics | | | 2014 | 589 | 1 |
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| Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy | Brain & development | | | 2014 | 694 | 0 |
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| Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy | Orphanet journal of rare diseases | | | 2014 | 689 | 660 |
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| Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study | Pediatrics | | | 2013 | 628 | 0 |
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| Embryonic stem cell-based screen for small molecules: cluster analysis reveals four response patterns in developing neural cells | Current medicinal chemistry | | | 2013 | 729 | 0 |
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| Nouvelles thérapies pour les maladies osseuses de l'enfant | Revue médicale suisse | | | 2012 | 570 | 0 |
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| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy | Journal of medical genetics | | | 2011 | 580 | 0 |
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| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum | Nature genetics | | | 2011 | 573 | 1 |
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| Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome | BMC neurology | | | 2011 | 598 | 230 |
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| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency | Neurology | | | 2010 | 710 | 0 |
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| Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient | Journal of inherited metabolic disease | | | 2008 | 505 | 0 |
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| Epigénétique et cancer | Revue médicale suisse | | | 2007 | 578 | 2 |
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| Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria | European journal of pediatrics | | | 2005 | 534 | 0 |
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| Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency | Journal of medical genetics | | | 2003 | 518 | 281 |
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