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C. Bole · SciRah

Researcher profile · Semantic Scholar

C. Bole

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C. Bole — researcher profile on SciRah

h-index: 13
Works: 30
Citations: 827

Most-cited papers

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
S. Gerber, K. Alzayady, L. Burglen, D. Bremond-Gignac +26 more
2016American Journal of Human Genetics137 citations Open access
Semantic Scholar
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
B. Neven, E. Mamessier, J. Bruneau, S. Kaltenbach +24 more
2012Blood134 citations Open access
Semantic Scholar
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
L. Fares-Taie, S. Gerber, N. Chassaing, J. Clayton-Smith +17 more
2013American Journal of Human Genetics104 citations Open access
Semantic Scholar
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
C. Alby, Kevin Piquand, C. Huber, A. Mégarbané +26 more
2015American Journal of Human Genetics85 citations Open access
Semantic Scholar
BAFF and CD4+ T cells are major survival factors for long-lived splenic plasma cells in a B-cell-depletion context.
L. Thai, S. Le Gallou, Ailsa Robbins, É. Crickx +8 more
2018Blood77 citations Open access
Semantic Scholar
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.
C. Barbieux, Mathilde Bonnet Des Claustres, M. Fahrner, E. Petrova +10 more
2021Journal of Allergy and Clinical Immunology60 citations Open access
Semantic Scholar
RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability
J. Thevenon, C. Michot, C. Bole, P. Nitschké +7 more
2015American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
M. Cavallin, M. Rujano, N. Bednarek, Daniel Medina-Cano +30 more
2017Brain : a journal of neurology32 citations Open access
Semantic Scholar
Comprehensive Identification of Meningococcal Genes and Small Noncoding RNAs Required for Host Cell Colonization
Elena Capel, A. Zomer, T. Nussbaumer, C. Bole +12 more
2016mBio31 citations Open access
Semantic Scholar
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
M. Fusaro, J. Rosain, Virginie Grandin, N. Lambert +41 more
2020Journal of Allergy and Clinical Immunology24 citations Open access
Semantic Scholar
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
C. Alby, L. Boutaud, B. Bessières, V. Serre +20 more
2018American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla
A. Tessier, Nathalie Roux, L. Boutaud, E. Lunel +12 more
2023Acta Neuropathologica Communications15 citations Open access
Semantic Scholar
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
M. Cavallin, Amandine Bery, Camille Maillard, L. Salomon +5 more
2018European Journal of Medical Genetics15 citations
Semantic Scholar
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
J. Picard, G. Morin, M. Devouassoux-Shisheboran, J. J. van der Smagt +6 more
2022Human Reproduction13 citations
Semantic Scholar
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Pauline Marzin, G. Baujat, D. Gensburger, C. Huber +5 more
2020European Journal of Medical Genetics11 citations Open access
Semantic Scholar
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature
L. Ruaud, N. Roux, L. Boutaud, B. Bessières +8 more
2022Birth Defects Research9 citations Open access
Semantic Scholar
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
Z. Sbihi, K. Tanita, C. Bachelet, C. Bole +20 more
2022Journal of Clinical Immunology8 citations
Semantic Scholar
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1
M. Chopra, R. Caswell, G. Barcia, S. Rondeau +11 more
2022European Journal of Human Genetics6 citations Open access
Semantic Scholar
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells
J. Steffann, Aurore Pouliet, Houda Adjal, C. Bole +7 more
2017Journal of Medical Genetics6 citations
Semantic Scholar
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
K. Chatzovoulou, A. Mayeur, N. Cagnard, M. Zarhrate +8 more
2023Human Reproduction3 citations Open access
Semantic Scholar
Expanding PIGM‐related disorders to coding mutations
R. Nicolle, Laura N. Russell, Véronique Abadie, P. Nitschké +11 more
2025Journal of the European Academy of Dermatology and Venereology1 citations Open access
Semantic Scholar
Erratum: Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome (American Journal of Human Genetics (2015) 97 (311-318))
C. Alby, Kevin Piquand, C. Huber, A. Mégarbané +26 more
20151 citations Open access
Semantic Scholar
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease
Matthieu Mantecon, C. Chhuon, Kévin Roger, I. Guerrera +7 more
2026HGG advances0 citations Open access
Semantic Scholar
No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases
M. Marchais, Alessandra Pennisi, Alexandre Pierga, A. Lepelley +8 more
2026European Journal of Immunology0 citations Open access
Semantic Scholar
A 22q13.1 duplication in mosaicism including SOX10
William Bertani-Torres, M. Serey-Gaut, Judite de Oliveira, C. Bole +9 more
2023American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY
J. Bohlen, Marine Michelet, F. Barzaghi, Francesco Saettini +45 more
2023EJC Paediatric Oncology0 citations Open access
Semantic Scholar
P-250 A shared gene expression signature in human blastocyst embryos affected by a mitochondrial disorder
K. Chatzovoulou, A. Mayeur, N. Cagnard, Z. Mohammed +9 more
2022Human Reproduction0 citations
Semantic Scholar
Ciliome resequencing: A lifeline for molecular diagnosis in LCA
I. Perrault, S. Hanein, M. Nicouleau, S. Saunier +7 more
2015Cilia0 citations Open access
Semantic Scholar
Comprehensive molecular diagnosis of 160 Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy by targeted next generation sequencing.
I. Perrault, S. Hanein, C. Bole, P. Nitschké +5 more
20150 citations
Semantic Scholar
deficiency A Mendelian predisposition to B-cell lymphoma caused by IL-10R
F. Ruemmele, A. Fischer, N. Brousse, F. Davi +17 more
20130 citations
Semantic Scholar

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