Y. Mathieu

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation

A. Munnich, S. Lyonnet, C. Goridis, 2009, Human Mutation.

Identification of novel genes involved in the commitment of endodermal cells to the thymic epithelial cell fate

Y. Mathieu, 2006 .

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2013, PloS one.

Regulation of human telomerase activity: repression by normal chromosome 3 abolishes nuclear telomerase reverse transcriptase transcripts but does not affect c-Myc activity.

A. Ducrest, M. Amacker, J. Lingner, 2001, Cancer research.

Transcriptase Transcripts but Does Not Affect c-Myc Activity ReverseNormal Chromosome 3 Abolishes Nuclear Telomerase Regulation of Human Telomerase Activity : Repression by Updated Version

A. Ducrest, M. Amacker, J. Lingner, 2001 .

Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

A. Munnich, S. Lyonnet, C. Goridis, 2008, Human mutation.

Defective prolactin signaling impairs pancreatic β-cell development during the perinatal period.

M. Lombès, M. Freemark, N. Binart, 2013, American journal of physiology. Endocrinology and metabolism.