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Laurence Hubert

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
2008 · Avraham Zeharia, Avraham Shaag, et al. · The American Journal of Human Genetics · 224
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Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria
2009 · Yves de Keyzer, Vassili Valayannopoulos, et al. · Pediatric Research · 169
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
2006 · Laurent Foiry, Li Dong, et al. · Human Genetics · 166
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
2013 · Diego Martinelli, Lorena Travaglini, et al. · Brain · 160
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
2010 · Caroline Michot, Laurence Hubert, et al. · Human Mutation · 134
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Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion
2008 · M. Mar González-Barroso, Irina Giurgea, et al. · PLoS ONE · 130
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
2018 · Jean Chemin, Karine Siquier-Pernet, et al. · Brain · 110
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Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
2013 · Yohan Soreze, Audrey Boutron, et al. · Orphanet Journal of Rare Diseases · 105
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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy
2014 · Metodi Dimitrov Metodiev, Sylvie Gerber, et al. · Journal of Medical Genetics · 99
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise‐induced myalgia
2012 · Caroline Michot, Laurence Hubert, et al. · Journal of Inherited Metabolic Disease · 96
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
2017 · Mingchu Xu, Yajing (Angela) Xie, et al. · The American Journal of Human Genetics · 79
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Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism
2008 · L. Damaj, M. le Lorch, et al. · The Journal of Clinical Endocrinology & Metabolism · 72
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy
2017 · Karine Poirier, Laurence Hubert, et al. · Human Mutation · 70
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2018 · Cyril Mignot, Aoife C. McMahon, et al. · Genetics in Medicine · 67
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Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts
2013 · Caroline Michot, Asmaa Mamoune, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 66
Mutations in BOREALIN cause thyroid dysgenesis
2016 · Aurore Carré, Athanasia Stoupa, et al. · Human Molecular Genetics · 62
Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome
2013 · Anaïs Brassier, Chris Ottolenghi, et al. · Molecular Genetics and Metabolism · 60
Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations
2012 · Jean Bergounioux, Anais Brassier, et al. · The Journal of Pediatrics · 60
Congenital hyperinsulinism and mosaic abnormalities of the ploidy
2005 · I Giurgea, D Sanlaville, et al. · Journal of Medical Genetics · 59
Molecular Mechanisms of Neonatal Hyperinsulinism
2006 · Irina Giurgea, Christine Bellanné-Chantelot, et al. · Hormone Research in Paediatrics · 54
Two new cases of serine deficiency disorders treated with l-serine
2015 · A. Brassier, V. Valayannopoulos, et al. · European Journal of Paediatric Neurology · 47
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
2020 · Claire Bar, Mathieu Kuchenbuch, et al. · Epilepsia · 44
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Clinical and biochemical heterogeneity associated with fumarase deficiency
2011 · Chris Ottolenghi, Laurence Hubert, et al. · Human Mutation · 43
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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
2019 · Arnold Munnich, Caroline Demily, et al. · Molecular Autism · 40
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The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism
2006 · Irina Giurgea, Christine Sempoux, et al. · The Journal of Clinical Endocrinology & Metabolism · 38
Works count: 66
Citation count: 2,827
H-index: 31
I10-index: 46
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