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Natacha Martin

Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC
1999 · C. Gallou, D. Joly, et al. · Human Mutation · 147
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Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
2004 · Catherine Gallou, Dominique Chauveau, et al. · Human Mutation · 88
Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier
2010 · Alexandre Hinzpeter, Abdel Aissat, et al. · PLoS Genetics · 78
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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons
2018 · Iwona Pranke, Laure Bidou, et al. · ERJ Open Research · 54
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Cisvariants identified in F508del complex alleles modulate CFTR channel rescue by small molecules
2017 · Nesrine Baatallah, Sara Bitam, et al. · Human Mutation · 47
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Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma
2001 · Catherine Gallou, Sandrine Longuemaux, et al. · Pharmacogenetics · 34
Combined Computational-Experimental Analyses ofCFTRExon Strength Uncover Predictability of Exon-Skipping Level
2013 · Abdel Aissat, Alix de Becdelièvre, et al. · Human Mutation · 32
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Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies
2012 · Alexandre Hinzpeter, Abdel Aissat, et al. · Human Mutation · 13
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Exon identity influences splicing induced by exonic variants and in silico prediction efficacy
2020 · Natacha Martin, Anne Bergougnoux, et al. · Journal of Cystic Fibrosis · 10
Genetic characterization of Plasmodium falciparum allelic variants infecting mothers at delivery and their children during their first plasmodial infections
2013 · Célia Dechavanne, Charlotte Pierrat, et al. · Infection Genetics and Evolution · 7
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
2004 · Catherine Gallou, Dominique Chauveau, et al. · Human Mutation · 6
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The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
2017 · Alexandre Hinzpeter, Marie‐Pierre Reboul, et al. · Clinical Case Reports · 5
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Identification of a Novel 5′ AlternativeCFTRmRNA Isoform in a Patient with Nasal Polyposis andCFTRMutations
2014 · Alexandre Hinzpeter, Alix de Becdelièvre, et al. · Human Mutation · 4
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Chronic hemolytic anemia due to novel -globin chain variants: critical location of the mutation within the gene sequence for a dominant effect
2009 · C. Prehu, K. Moradkhani, et al. · Haematologica · 4
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A rare G6PD variant (c.383T > G; p.128Leu > Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val > Met, 126Asn > Asp)
2009 · Kamran Moradkhani, Michel Bahuau, et al. · Blood Cells Molecules and Diseases · 3
8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible
2016 · A. Hinzpeter, M.-P. Reboul, et al. · Journal of Cystic Fibrosis · 1
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Distribution of mutations in breast/ovarian cancer susceptibility genes in the north-east of Spain
2012 · Mar Infante, Eva Esteban Cardeñosa, et al. · DIGITAL.CSIC (Spanish National Research Council (CSIC))
Variant Mutation Gender RBC Hb Ht MCV MCH Reticulocytes HbA2
2009 · Kamran Moradkhani, J. Riou, et al.
Works count: 18
Citation count: 533
H-index: 9
I10-index: 9
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