Bernard Grandchamp

Prevalence and characteristics of <i>TERT</i> and <i>TERC</i> mutations in suspected genetic pulmonary fibrosis

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer

Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

<i>PARKIN</i>Inactivation Links Parkinson’s Disease to Melanoma

Genes involved in the <scp>WNT</scp> and vesicular trafficking pathways are associated with melanoma predisposition

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

A New Human NHERF1 Mutation Decreases Renal Phosphate Transporter NPT2a Expression by a PTH-Independent Mechanism

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C