C. Lemattre

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

J. Thevenon, L. Faivre, Y. Duffourd, 2018, American journal of medical genetics. Part A.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

P. Bénit, F. Rivier, P. Rustin, 2019, European Journal of Human Genetics.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

F. Rivier, P. Rustin, J. Rivière, 2019, European Journal of Human Genetics.