A5044254335- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- RNA modifications and cancer
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Amyotrophic Lateral Sclerosis Research
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Cancer-related molecular mechanisms research
- Kruppel-like factors research
- Lysosomal Storage Disorders Research
- RNA and protein synthesis mechanisms
- Machine Learning in Healthcare
- Genetic diversity and population structure
- Genomics and Phylogenetic Studies
- Data-Driven Disease Surveillance
- Protease and Inhibitor Mechanisms
- Gene expression and cancer classification
- Angiogenesis and VEGF in Cancer
- Thyroid Cancer Diagnosis and Treatment
- Ginkgo biloba and Cashew Applications
- Banana Cultivation and Research
Université Paris Cité
2015-2025
NeuroDiderot
2019-2025
Inserm
2015-2025
Délégation Paris 7
2013-2024
Sorbonne Paris Cité
2012-2024
Hôpital Robert-Debré
2024
Institute of Genetics and Biophysics
2022
Istituto Neurologico Mediterraneo
2022
Human Genetic of Infectious Diseases
2009-2019
Fondation Jean Dausset-CEPH
2010-2015
Mutation in a small nuclear RNA hinders splicing of pre–messenger RNAs and causes the severe malformations Taybi-Linder syndrome.
Abstract Mutations in LRRK2 were recently identified autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with PD, mostly from France and North Africa. Surprisingly, frequency African families (7/17, 41%) was greater than those Europe (5/174, 2.9%). The clinical features 21 patients, 1 a homozygous mutation, of typical lower Mini‐Mental State Examination scores. There also 15 unaffected mutation carriers, aged 32 to...
Abstract The 1000 Genomes Project provides a unique source of whole genome sequencing data for studies human population genetics and diseases. last release this project includes more than 2,500 sequenced individuals from 26 populations. Although relationships among have been investigated in some the populations, inbreeding has never studied. In article, we estimated genomic coefficient each individual found an unexpected high level data: nearly quarter were inbred around 4% them had...
Vascular Endothelial Growth Factor (VEGF) is the main player in angiogenesis. Because of its crucial role this process, study genetic factors controlling VEGF variability may be particular interest for many angiogenesis-associated diseases. Although some polymorphisms gene have been associated with a susceptibility to several disorders, no genome-wide search on serum levels has reported so far. We carried out linkage analysis three isolated populations and we detected strong between 6p21.1...
Abstract Background Recessive mutations in the F‐box protein 7 gene ( FBXO7 ; PARK15) have been identified as a cause of parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings Turkish family with novel mutations. Methods Whole exome targeted Sanger sequencing were performed for analysis two members affected by Parkinson's disease (PD). All underwent detailed clinical, mental, neurological examination. Results The new p.L34R (c.101 T>G) mutation was detected...
ABSTRACT Objective Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. alloimmune thrombocytopenia pathogenic variations in COL4A1/A2 genes are well‐recognized causes of FICH. However, identified only 20% fetuses referred for FICH after excluding other known causes, leaving the majority unexplained making genetic counseling difficult. Our main aim was to identify novel associated with Method Exome sequencing performed on 113 unrelated (35 trios, 3 families...
Patient stratification is the cornerstone of numerous health investigations, serving to enhance estimation treatment efficacy and facilitating patient matching. To stratify patients, similarity measures between patients can be computed from clinical variables contained in medical records. These have both values labels structured ontologies or other classification systems. The relevance considering variable label relationships computation has been poorly studied. We adapt evaluate several...
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified families with autosomal dominant Parkinson's disease (PD) and sporadic cases; G2019S mutation is single most frequent. Intriguingly, frequency of this PD patients varies greatly among ethnic groups geographic origins: it present at <0.1% East Asia, ∼2% European-descent can reach frequencies up to 15–40% Ashkenazi Jews North African Arabs. To ascertain evolutionary dynamics different populations, we genotyped 74...
If the parents of an individual are related, it is possible for to have received at 1 locus 2 identical-by-descent alleles that copies a single allele carried by parents' common ancestor. The inbreeding coefficient measures probability this event and increases with increasing relatedness between parents. It traditionally computed from observed loops in genealogies its accuracy thus depends on depth reliability genealogies. With availability genome-wide genetic data, has become compute...
In the human genome, about 750 genes contain one intron excised by minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes. These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- post-natal growth retardation, microcephaly, skeletal...
Importance Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening known CSVD genes. Objective To identify novel genes and mechanisms associated with CSVD. Design, Setting, Participants This 2-stage study involved linkage analysis a case-control study; whole exome genome sequencing were used to candidate gene variants in 2 large families (9 patients CSVD). Then, was conducted on 246 unrelated probands,...
Background: Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation exon 41, have been detected familial and sporadic Parkinson disease (PD) cases.Objectives: To assess frequency of LRRK2 41 mutations a series PD cases from Europe to determine clinical features carriers.Design: We analyzed European for presence mutations.These were screened by denaturing high-performance liquid chromatography, abnormal chromatograph traces investigated direct sequencing exact...
Abstract Summary: FSuite is a user-friendly pipeline developed for exploiting inbreeding information derived from human genomic data. It can make use of single nucleotide polymorphism chip or exome Compared with other software, the advantage that it provides complete suite scripts to describe and information. includes module detect inbred individuals estimate their coefficient, proportion different mating types in population individual probability be offspring useful genetic studies. also...
Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations RNU4ATAC , transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformation disorders named Taybi–Linder (TALS/MOPD1), Roifman (RFMN), Lowry–Wood (LWS) syndromes, which associate numerous overlapping signs of varying severity. Although RNA-seq experiments have been conducted on few RFMN patient cells, none performed...
Background and Purpose— Cerebral cavernous malformations (CCMs) are vascular of the brain that lead to cerebral hemorrhages. A pharmacological treatment is needed especially for patients with nonoperable deep-seated lesions. We others obtained CCM mouse models were useful mechanistic studies rapid trials testing preventive effects candidate drugs. The shortened lifespan acute hampered evaluation compounds would not only prevent lesion appearance but also cure preexisting...