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Valérie Serre

Observed names: Serre, V., Serre, Valérie, V Serre, V. Serre, Valerie Serre
Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Tel Aviv University, Hebrew University of Jerusalem, Université Paris Cité, Hadassah Medical Center, Rabin Medical Center, Institut Necker Enfants Malades, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Schneider Children's Medical Center, Laboratoire de Biochimie, Institut Jacques Monod, Institut des Maladies Génétiques Imagine, Université Paris Diderot, Université Paris Descartes, Université Pierre-et-Marie-Curie
ORCID: 0000-0001-5277-1120
Observed ORCID: 0000-0001-5277-1120
OpenAlex ID: A5064608643
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
2011 · Slaheddine Marrakchi, Philippe Guigue, et al. · New England Journal of Medicine · 999
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
2007 · Alice Bourdon, Limor Minai, et al. · Nature Genetics · 531
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
2014 · Sylvie Bannwarth, Samira Ait-El-Mkadem, et al. · Brain · 488
CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures
2008 · Julie Mollet, Agnès Delahodde, et al. · The American Journal of Human Genetics · 292
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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
2009 · Nathalie Dagoneau, Marie Goulet, et al. · The American Journal of Human Genetics · 255
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Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
2007 · Emmanuelle Sarzi, Steffi Goffart, et al. · Annals of Neurology · 175
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
2011 · Carine Le Goff, Clémentine Mahaut, et al. · Nature Genetics · 161
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
2011 · Louise Galmiche, Valérie Serre, et al. · Human Mutation · 149
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
2012 · Isabelle Perrault, Sylvain Hanein, et al. · Nature Genetics · 147
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation
2012 · Marie Marduel, Khadija Ouguerram, et al. · Human Mutation · 133
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
2010 · Mike Gerards, Bianca J. C. van den Bosch, et al. · Brain · 132
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
2014 · Annabelle Chaussenot, Isabelle Le Ber, et al. · Neurobiology of Aging · 115
Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
2012 · Vanessa Vedrenne, Ali Gowher, et al. · The American Journal of Human Genetics · 109
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
2009 · Sylvain Hanein, Isabelle Perrault, et al. · The American Journal of Human Genetics · 105
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ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
2013 · Lucas Fares-Taie, Sylvie Gerber, et al. · The American Journal of Human Genetics · 102
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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation
2018 · Anthony Drecourt, Joël Babdor, et al. · The American Journal of Human Genetics · 98
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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency
2013 · Valérie Serre, Agata Rozanska, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 95
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
2016 · Samira Ait-El-Mkadem, Manal Dayem-Quere, et al. · The American Journal of Human Genetics · 93
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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
2013 · Céline Huber, Sulin Wu, et al. · The American Journal of Human Genetics · 86
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Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
2008 · David Geneviève, Valérie Proulle, et al. · Nature Genetics · 83
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
2017 · Cécile Rouzier, David Moore, et al. · Human Molecular Genetics · 75
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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy
2016 · Sylvie Gerber, Martina G Ding, et al. · Journal of Medical Genetics · 58
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
2014 · Sophie Thomas, Vincent Cantagrel, et al. · European Journal of Human Genetics · 56
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
2010 · C Rouzier, S Le Guédard-Méreuze, et al. · Journal of Medical Genetics · 55
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
2017 · Cécile Rouzier, David Moore, et al. · Human Molecular Genetics · 52
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Works count: 78
Citation count: 5,335
H-index: 32
I10-index: 52
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