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Author

Valérie Race

Observed names: Race, Valerie, V Race, V. Race, VALERIE RACE, Valerie Race, Valérie Racé
Institution: KU Leuven
ORCID: 0000-0002-0012-0219
Observed ORCID: 0000-0002-0012-0219
OpenAlex ID: A5086207052
Guidelines for diagnostic next-generation sequencing
2015 · Gert Matthijs, Erika Souche, et al. · European Journal of Human Genetics · 516
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Erratum: Guidelines for diagnostic next-generation sequencing
2016 · Gert Matthijs, Erika Souche, et al. · European Journal of Human Genetics · 430
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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
2012 · François Foulquier, Mustapha Amyere, et al. · The American Journal of Human Genetics · 216
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DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
2012 · Rita Barone, Chiara Aiello, et al. · Annals of Neurology · 149
Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway
2007 · Claire E. Hart, Valerie Race, et al. · The American Journal of Human Genetics · 122
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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
2019 · Eline Blommaert, Romain Péanne, et al. · Proceedings of the National Academy of Sciences · 97
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MAN1B1 Deficiency: An Unexpected CDG-II
2013 · Daisy Rymen, Romain Peanne, et al. · PLoS Genetics · 91
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Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency
2000 · V. Race · Human Molecular Genetics · 63
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
2016 · Bobby G. Ng, Sergey A. Shiryaev, et al. · Human Mutation · 59
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TDP-43 M311V mutation in familial amyotrophic lateral sclerosis
2009 · R Lemmens, V Race, et al. · Journal of Neurology Neurosurgery & Psychiatry · 56
COG5-CDG: expanding the clinical spectrum
2012 · Daisy Rymen, Liesbeth Keldermans, et al. · Orphanet Journal of Rare Diseases · 46
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Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG
2015 · R. Bammens, N. Mehta, et al. · Glycobiology · 44
The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS
2009 · P. Van Damme, A. Goris, et al. · European Journal of Neurology · 44
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study
2013 · Sarah Debray, Valérie Race, et al. · Neurobiology of Aging · 42
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing
2016 · Simon Ardui, Valerie Race, et al. · Human Mutation · 41
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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
2013 · Hui Zhao, Valérie Race, et al. · European Journal of Human Genetics · 40
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients
2015 · Tite Minga Mikobi, Prosper Lukusa Tshilobo, et al. · PLoS ONE · 34
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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
2012 · Sarah Herdewyn, Hui Zhao, et al. · Human Molecular Genetics · 34
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Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency
2002 · S. Marie, V. Race, et al. · The American Journal of Human Genetics · 34
SRD5A3-CDG: A patient with a novel mutation
2012 · C.S. Kasapkara, L. Tümer, et al. · European Journal of Paediatric Neurology · 33
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
2018 · Simon Ardui, Valerie Race, et al. · Frontiers in Genetics · 31
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Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
2019 · Nathalie Brison, Jazz Storms, et al. · Genetics in Medicine · 30
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Novel TBX5 Mutations in Patients with Holt-Oram Syndrome
2007 · Philippe Debeer, Valerie Race, et al. · Clinical Orthopaedics and Related Research · 29
Challenges in molecular diagnosis of X-linked Intellectual disability
2019 · Chiara De Luca, Valérie Race, et al. · British Medical Bulletin · 24
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Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
2020 · Berardo Rinaldi, Valerie Race, et al. · European Journal of Medical Genetics · 22
Works count: 82
Citation count: 2,594
H-index: 24
I10-index: 37
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