Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

O. Alibeu · SciRah

Researcher profile · Semantic Scholar

O. Alibeu

Share profile

O. Alibeu — researcher profile on SciRah

h-index: 16
Works: 25
Citations: 1,079

Most-cited papers

Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements.
Annalisa Lattanzi, Vasco Meneghini, Giulia Pavani, F. Amor +11 more
2019Molecular Therapy111 citations Open access
Semantic Scholar
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Marion Failler, H. Gee, P. Krug, Kwangsic Joo +22 more
2014American Journal of Human Genetics107 citations Open access
Semantic Scholar
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
L. Heidet, V. Moriniére, Charline Henry, L. De Tomasi +21 more
2017Journal of the American Society of Nephrology105 citations Open access
Semantic Scholar
Early Acute Microvascular Kidney Transplant Rejection in the Absence of Anti-HLA Antibodies Is Associated with Preformed IgG Antibodies against Diverse Glomerular Endothelial Cell Antigens.
Marianne Delville, B. Lamarthée, S. Pagie, S. See +31 more
2019Journal of the American Society of Nephrology102 citations Open access
Semantic Scholar
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Dennis Mircsof, Maéva Langouët, M. Rio, S. Moutton +25 more
2015Nature Neuroscience94 citations Open access
Semantic Scholar
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study
F. Charbit-Henrion, M. Parlato, S. Hanein, R. Duclaux-Loras +65 more
2018Journal of Crohn's & Colitis86 citations Open access
Semantic Scholar
Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders
L. Nguyen, Julien Fregeac, C. Bôle-Feysot, N. Cagnard +6 more
2018Molecular Autism80 citations Open access
Semantic Scholar
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
C. Besnard, E. Levy, N. Aladjidi, M. Stolzenberg +19 more
2018Clinical Immunology72 citations
Semantic Scholar
Somatic genetic rescue of a germline ribosome assembly defect
Shengjiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +33 more
2021Nature Communications65 citations Open access
Semantic Scholar
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome
Séverine Bacrot, M. Doyard, C. Huber, O. Alibeu +9 more
2015Human Mutation50 citations Open access
Semantic Scholar
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
C. le Goff, Curtis R Rogers, W. Le Goff, G. Pinto +7 more
2016American Journal of Human Genetics43 citations Open access
Semantic Scholar
Loss of ARHGEF1 causes a human primary antibody deficiency
Amine Bouafia, S. Lofek, J. Bruneau, Loïc Chentout +16 more
2019Journal of Clinical Investigation38 citations Open access
Semantic Scholar
CE-SSCP and CE-FLA, simple and high-throughput alternatives for fungal diversity studies.
L. Zinger, J. Gury, O. Alibeu, D. Rioux +4 more
2008Journal of Microbiological Methods38 citations
Semantic Scholar
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
J. Alessandri, C. Gordon, M. Jacquemont, N. Gruchy +22 more
2018European Journal of Human Genetics31 citations Open access
Semantic Scholar
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Séverine Bacrot, C. Mechler, N. Talhi, D. Martin-Coignard +10 more
2018Birth Defects Research18 citations
Semantic Scholar
APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.
O. Gribouval, O. Boyer, B. Knebelmann, A. Karras +8 more
2018Nephrology, Dialysis and Transplantation18 citations
Semantic Scholar
MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence
C. Gordon, M. Chopra, M. Oufadem, O. Alibeu +7 more
2018American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Phylogenetic analysis of the Aspergillus niger aggregate in relation to feruloyl esterase activity.
F. Giraud, J. Dupont, M. Haon, Ourdia Bouzid +6 more
2007Research in Microbiology7 citations Open access
Semantic Scholar
Corrigendum to “CE-SSCP and CE-FLA, simple and high-throughput alternatives for fungal diversity studies” [Journal of Microbiological Methods 72 (2008) 42–53]
L. Zinger, J. Gury, O. Alibeu, D. Rioux +4 more
20083 citations
Semantic Scholar
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
F. Charbit-Henrion, M. Parlato, S. Hanein, R. Duclaux-Loras +65 more
2020Journal of Crohn's & Colitis1 citations Open access
Semantic Scholar
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect
Sheng-Jiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +33 more
2022Nature Communications0 citations Open access
Semantic Scholar
Somatic genetic rescue of a germline ribosome assembly defect 2
Sheng-Jiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +35 more
20210 citations
Semantic Scholar
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
J. Alessandri, C. Gordon, M. Jacquemont, N. Gruchy +22 more
2018European Journal of Human Genetics0 citations Open access
Semantic Scholar
Cakutome, a high-throughput tool for molecular diagnosis and identification of novel causative genes for CAKUT patients
L. Heidet, V. Moriniére, Charline Henry, L. De Tomasi +16 more
20170 citations
Semantic Scholar
892 CLAUDIN-1 GENE VARIANTS AND SUSCEPTIBILITY TO HEPATITIS C INFECTION IN HIV-1 INFECTED INTRAVENOUS DRUG USERS (AN ANRS CASE-CONTROL STUDY)
J. Ghosn, O. Alibeu, S. Sahali, Y. Quertainmont +5 more
20120 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

P. Nitschké×12
Invite
P. Nitschké — researcher profile on SciRah
C. Bôle-Feysot×9
Invite
C. Bôle-Feysot — researcher profile on SciRah
C. Masson×5
Invite
C. Masson — researcher profile on SciRah
C. Fourrage×5
Invite
C. Fourrage — researcher profile on SciRah

×5

Invite

C. Picard — researcher profile on SciRah

Invite

C. Antignac — researcher profile on SciRah

Invite

F. Tores — researcher profile on SciRah

Invite

J. Amiel — researcher profile on SciRah

Invite

A. Fischer — researcher profile on SciRah

Invite

R. Novo — researcher profile on SciRah

C. Pietrement×3

Invite

C. Pietrement — researcher profile on SciRah

Invite

R. Salomon — researcher profile on SciRah