S. Chantot

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

S. Amselem, B. Copin, G. Montantin, 2020, Human mutation.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

S. Amselem, A. Loyens, A. Schmitt, 2019, American journal of human genetics.

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

J. Siffroi, M. Portnoï, W. Carpentier, 2009, European journal of medical genetics.

Simultaneous Hyper‐ and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

A. Barlier, Stéphanie Maupetit-Méhouas, C. Reynès, 2013, Human mutation.

CMV-IGG avidity and CMV-IGM concentration in both immunocompromised and immunocompetent patients.

S. Chantot, E. Dussaix, M. Harzic, 1996, Pathologie-biologie.

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis

F. Denoyelle, H. Ducou le Pointe, J. Siffroi, 2010, American journal of medical genetics. Part A.

Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.

A. Dumaine, H. Rouba, K. McElreavey, 2006, Molecular human reproduction.