Author details

Full Name

ValÃ©rie Race

Affiliation

ORCID

Career Start Year

2000

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37014748	Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.	Hematology	2023
37601858	Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.	EJHaem	2023
35253968	Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation.	European Journal of Neurology	2022
35819088	Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.	J Clin Lab Anal	2022
35405024	DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.	J Clin Lab Anal	2022
36116698	Molecular genetic characterization of Congolese patients with oculocutaneous albinism.	European Journal of Medical Genetics	2022
36525434	Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.	PLoS One	2022
34469621	RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.	European Journal of Neurology	2022
34869787	Parkinson's Disease with a Homozygous Mutation and Clinical Onset at the Age of 5â¿¿Years.	Movement Disorders Clinical Practice	2021
33728255	SLC37A4-CDG: Second patient.	JIMD Rep	2021
33340551	Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.	J Pediatr	2021
32893083	Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.	Neuromuscular Disorders	2020
32058062	Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.	Eur J Med Genet	2020
32043524	Challenges in molecular diagnosis of X-linked Intellectual disability.	British Medical Bulletin	2020
32732387	Diagnostic yield of testing for repeat expansions in patients with unexplained adult-onset cerebellar ataxia.	Journal of Neurology, Neurosurgery and Psychiatry	2020
31197268	Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.	Genetics in Medicine	2019
29974402	Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.	Journal of Community Genetics	2019
31036665	Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype.	Proc Natl Acad Sci U S A	2019
30919029	An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.	Acta Neuropathologica	2019
31336229	Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.	European Journal of Obstetrics, Gynecology and Reproductive Biology	2019
28276593	Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the Î±<sup>3.7</sup> triplication in congolese patients than in worldwide series.	J Clin Lab Anal	2018
28332727	Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.	J Clin Lab Anal	2018
29868108	Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.	Front Genet	2018
30088852	A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.	Am J Med Genet A	2018
27883256	Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.	Hum Mutat	2017
28679690	<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegia.	Cold Spring Harb Mol Case Stud	2017
27628564	Guidelines for diagnostic next-generation sequencing.	Eur J Hum Genet	2016
26931382	ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.	Hum Mutat	2016
26508566	Guidelines for diagnostic next-generation sequencing.	Eur J Hum Genet	2016
25946088	Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.	PLoS One	2015
25609749	Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.	Glycobiology	2015
24105373	Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.	Eur J Hum Genet	2014
24348268	MAN1B1 deficiency: an unexpected CDG-II.	PLoS Genet	2013
22983704	Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.	Glycoconj J	2013
23870417	Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study.	Neurobiol Aging	2013
22240719	SRD5A3-CDG: a patient with a novel mutation.	Eur J Paediatr Neurol	2012
22306853	Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.	Eur J Med Genet	2012
22343411	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.	Hum Mol Genet	2012
22683087	TMEM165 deficiency causes a congenital disorder of glycosylation.	Am J Hum Genet	2012
23109149	DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.	Ann Neurol	2012
23228021	COG5-CDG: expanding the clinical spectrum.	Orphanet J Rare Dis	2012
19922450	The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS.	Eur J Neurol	2010
19228676	TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.	J Neurol Neurosurg Psychiatry	2009
19041959	Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.	Eur J Med Genet	2009
17436247	Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.	Am J Hum Genet	2007
17534187	Novel TBX5 mutations in patients with Holt-Oram syndrome.	Clinical Orthopaedics and Related Research	2007
15571234	Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s).	Nucleosides, Nucleotides and Nucleic Acids	2004
15571259	New evidences for a regulation of deoxycytidine kinase activity by reversible phosphorylation.	Nucleosides, Nucleotides and Nucleic Acids	2004
12016589	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.	American Journal of Human Genetics	2002
10958654	Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.	Human Molecular Genetics	2000