C. Costa

N. Saidi-Mehtar, M. Fodil, M. Aberkane, 2014, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling

M. Goossens, E. Girodon-Boulandet, C. Costa, 2009, Journal of thrombosis and haemostasis : JTH.

Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal

C. Rothschild, M. Gadji, S. Diop, 2017, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Role of factor VIII-binding capacity of endogenous von Willebrand factor in the development of factor VIII inhibitors in patients with severe hemophilia A

V. Ramanan, F. Rosendaal, S. Kaveri, 2019, Haematologica.

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

C. Roe, J. Saudubray, P. de Lonlay, 2000, European Journal of Pediatrics.

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

A. Legrand, A. Slama, J. M. Costa, 2003, Molecular genetics and metabolism.

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

A. Legrand, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

A new large CFTR rearrangement illustrates the importance of searching for complex alleles

P. Ruszniewski, E. Girodon, I. Sermet, 2006, Human mutation.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

A. Facchiano, A. Marabotti, D. Cheillan, 2012, Molecular genetics and metabolism.

Simple, rapid nonradioactive method to detect the three most prevalent hereditary fructose intolerance mutations.

J. Deleuze, J. M. Costa, M. Hadchouel, 1998, Clinical chemistry.

Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon‐Skipping Level

E. Girodon, C. Vasseur, M. Goossens, 2013, Human mutation.

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

M. Claustres, E. Girodon, T. Bienvenu, 2011, European Journal of Human Genetics.

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

M. Claustres, R. Epaud, E. Girodon, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Combined polymorphisms of tumour necrosis factor alpha and interleukin-10 genes in patients with alcoholic hepatitis

B. Campillo, P. Bories, J. Richardet, 2006, European journal of gastroenterology & hepatology.

Characterization of four novel molecular changes in the promoter region of the factor VIII gene

C. Négrier, C. Vinciguerra, O. Roualdes, 2014, Haemophilia : the official journal of the World Federation of Hemophilia.

Development of Inhibitory Antibodies to Therapeutic Factor VIII in Severe Hemophilia A Is Associated with Microsatellite Polymorphism in the HMOX1 promoter

S. Kaveri, S. Lacroix-Desmazes, J. Dimitrov, 2012 .

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

Bruno Costes, E. Girodon, M. Goossens, 2010, PLoS genetics.

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

C. Baussan, F. Feillet, P. Labrune, 2008, Molecular genetics and metabolism.

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

J. Albuisson, M. Goossens, M. Tosi, 2005, Haematologica.

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

E. Génin, E. Girodon, M. Goossens, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.

E. Girodon, M. Goossens, Jean‐Marc Costa, 2008, Clinical chemistry.

Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge.

E. Girodon, M. Goossens, C. Costa, 2006, Clinical Chemistry.

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

E. Girodon, M. Goossens, M. Legendre, 2010, European Journal of Human Genetics.