V. Laugel

A possible cranio-oro-facial phenotype in

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013 .

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

A. Bloch-Zupan, O. Poch, H. Dollfus, 2011, American journal of human genetics.

Genetic Inactivation of Prokineticin Receptor-1 Leads to Heart and Kidney Disorders

P. Dollé, L. Zimmer, N. Messaddeq, 2011, Arteriosclerosis, thrombosis, and vascular biology.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

A possible cranio-oro-facial phenotype in Cockayne syndrome

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013, Orphanet Journal of Rare Diseases.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

C. Béroud, J. Desvignes, M. Krahn, 2019, Journal of Human Genetics.