A. Robréau

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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

J. Deybach, L. Gouya, H. Puy, 2004, Human Genetics.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice

C. Beaumont, J. Deybach, L. Gouya, 2013, Mammalian Genome.

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

C. Beaumont, J. Deybach, L. Gouya, 2007, Gastroenterology.

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.

L. Gouya, H. Puy, N. Pallet, 2017, Journal of the American Society of Nephrology : JASN.

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

J. Deybach, H. Puy, R. Morgan, 1999, American journal of human genetics.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

C. Beaumont, P. Brissot, D. Valla, 2016, Gastroenterology.

Heterozygous Mutations in BMP 6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans Running title : BMP 6 , gene for moderate hemochromatosis

C. Beaumont, P. Brissot, D. Valla, 2016 .

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

J. Deybach, H. Puy, V. Da Silva, 1997, Journal of internal medicine.

Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda

T. Lefèbvre, H. Puy, J. Lamoril, 2012, The British journal of dermatology.

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

J. Thiery, C. Boulard, F. Radvanyi, 2004, British Journal of Cancer.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice

C. Beaumont, J. Deybach, L. Gouya, 2013, Mammalian Genome.

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

J. Deybach, H. Puy, Y. Nordmann, 1998, Human Genetics.

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

J. Deybach, L. Gouya, H. Puy, 1997, American journal of human genetics.

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

C. Beaumont, J. Deybach, L. Gouya, 2006, American journal of human genetics.

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

J. Deybach, L. Gouya, H. Puy, 2002, Nature Genetics.

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

N. Karboul, J. Deybach, L. Gouya, 2018, Human molecular genetics.

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

J. Deybach, H. Puy, Y. Nordmann, 1999, Molecular and cellular probes.

Acute intermittent porphyria: rapid molecular diagnosis.

J. Deybach, H. Puy, Y. Nordmann, 1997, Cellular and molecular biology.

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.

H. Puy, Y. Nordmann, J. Lamoril, 1996, Human heredity.

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

J. Deybach, H. Puy, Y. Nordmann, 1996, Biochemical and biophysical research communications.

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

J. Deybach, H. Puy, B. Grandchamp, 1996, Human molecular genetics.

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

J. Deybach, L. Gouya, H. Puy, 1999, Clinica chimica acta; international journal of clinical chemistry.