A. de becdelievre

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

R. Epaud, R. Borie, E. Bosdure, 2017, Respiratory medicine.

New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes

L. Defebvre, A. Destée, M. Lemaître, 2006, Movement disorders : official journal of the Movement Disorder Society.

COMMD1 modulates noxious inflammation in cystic fibrosis.

S. Moutéreau, A. Hinzpeter, S. le Gouvello, 2013, The international journal of biochemistry & cell biology.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Alternative Splicing of In‐Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

L. Galietta, E. Girodon, E. Bieth, 2013, Human mutation.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.