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T. R. Frio · SciRah

Researcher profile · Semantic Scholar

T. R. Frio

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T. R. Frio — researcher profile on SciRah

h-index: 7
Works: 23
Citations: 923

Most-cited papers

DICER1 mutations in Familial Multi-Nodular Goiter with and without Ovarian Sertoli-Leydig Cell Tumors
T. R. Frio, A. Bahubeshi, Chryssa Kanellopoulou, N. Hamel +21 more
2011Journal of the American Medical Association (JAMA)315 citations Open access
Semantic Scholar
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite
T. Grünewald, V. Bernard, P. Gilardi-Hebenstreit, V. Raynal +28 more
2015Nature Genetics176 citations Open access
Semantic Scholar
Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients
J. Madic, A. Kiialainen, F. Bidard, Fabian Birzele +18 more
2015International Journal of Cancer149 citations
Semantic Scholar
Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
C. Rivolta, Terri L. McGee, T. R. Frio, R. Jensen +2 more
2006Human Mutation114 citations Open access
Semantic Scholar
Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during Aging
Katarzyna Siudeja, S. Nassari, Louis Gervais, P. Skorski +6 more
2015Cell Stem Cell92 citations Open access
Semantic Scholar
Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis
V. Boeva, Stéphanie Jouannet, Romain Daveau, V. Combaret +13 more
2013PLoS ONE49 citations Open access
Semantic Scholar
Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families
T. R. Frio, M. Haanpää, C. Pouchet, K. Pylkäs +4 more
2010Journal of Human Genetics9 citations
Semantic Scholar
A Single-Base Substitution Within an Intronic Repetitive Element in PRPF31 Causes Dominant Retinitis Pigmentosa With Reduced Penetrance
C. Rivolta, Terri L. McGee, N. Wade, C. Iseli +3 more
20096 citations
Semantic Scholar
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa
T. R. Frio, Sylwia Panek, C. Iseli, Silvio Alessandro Di Gioia +3 more
2009Molecular Vision6 citations
Semantic Scholar
Two transacting eQTLs modulate the penetrance of PRPF 31 mutations
T. R. Frio, Natacha Civic, A. Ransijn, J. Beckmann +1 more
20083 citations
Semantic Scholar
Abstract PD3-8: Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients
F. Bidard, J. Madic, A. Kiialainen, Fabian Birzele +16 more
20152 citations
Semantic Scholar
Abstract LB-171: Randomized phase II trial comparing therapy based on tumor molecular profiling versus conventional therapy in patients with refractory cancer: Preliminary results of the feasibility of the SHIVA trial.:
C. Tourneau, S. Scholl, E. Mitry, N. Isambert +16 more
20132 citations
Semantic Scholar
High-Throughput Technologies: DNA and RNA Sequencing Strategies and Potential
T. R. Frio
20151 citations
Semantic Scholar
Late diagnosis of RAPSN mutation–associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl
Grace. S. Kurian, T. R. Frio, Isabelle Ruchonnet-Métrailler, Joel Fluss
2026BMC Pediatrics0 citations Open access
Semantic Scholar
Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation
Marc Scheen, Grégoire Arnoux, P. K. Van Kien, T. R. Frio +8 more
2025Kidney Medicine0 citations Open access
Semantic Scholar
Abstract 2400: Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for targeted sequencing in a prospective randomized trial for personalized treatment in all tumor type: The SHIVA study
J. Pierga, C. Decraene, V. Bernard, M. Kamal +14 more
20150 citations
Semantic Scholar
Abstract A10: Functional characterization of Ewing's sarcoma susceptibility loci
T. Grunewald, M. Aynaud, F. Tirode, E. Tomazou +10 more
20140 citations
Semantic Scholar
1571PDDE NOVO MUTATION DETECTION FROM CTDNA CORRELATES WITH VARIANTS DETECTED ON METASTASIS OF PATIENTS WITH ANY KIND OF REFRACTORY CANCER FROM THE SHIVA TRIAL.
J. Pierga, C. Decraene, V. Bernard, M. Kamal +8 more
2014Annals of Oncology0 citations Open access
Semantic Scholar
Poster session 7. Clinical Studies – non-phase 1
C. le Tourneau, M. Kamal, O. Trédan, C. Gomez-Roca +23 more
20130 citations Open access
Semantic Scholar
P07.01RANDOMIZED PHASE II TRIAL COMPARING THERAPY BASED ON TUMOR MOLECULAR PROFILING VERSUS CONVENTIONAL THERAPY IN REFRACTORY CANCER PATIENTS: SHIVA DESIGN
C. le Tourneau, M. Kamal, O. Trédan, C. Gomez-Roca +8 more
20130 citations Open access
Semantic Scholar
miRNA expression as a predictor of survival in patients with metastatic colorectal cancer treated with EGFR inhibitors.
S. Imbeaud, G. Manceau, J. Bachet, J. Emile +8 more
20120 citations
Semantic Scholar
Genetic Elements Determining Penetrance of PRPF31 (RP11) Mutations
T. R. Frio, Natacha Civic, C. Rivolta
20070 citations
Semantic Scholar
Mutant Alleles of PRPF31 Linked to Retinitis Pigmentosa and Containing Premature Stop Codons Are Subject to Nonsense-Mediated Decay (NMD)
N. Wade, T. R. Frio, C. Rivolta
20070 citations
Semantic Scholar

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