P. Goussard

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

H. Blanché, E. Pasmant, A. Sabbagh, 2015, Journal of Human Genetics.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

E. Pasmant, M. Vidaud, O. Farges, 2011, European Journal of Human Genetics.

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

C. Deswarte, E. Pasmant, I. Laurendeau, 2014, Oncogene.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

E. Pasmant, A. Sabbagh, M. Vidaud, 2009, Journal of Medical Genetics.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

E. Pasmant, M. Vidaud, I. Laurendeau, 2014, European Journal of Human Genetics.

Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes

M. Vidaud, P. Nitschké, C. Burin des Roziers, 2014, British Journal of Ophthalmology.

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

E. Pasmant, M. Vidaud, O. Farges, 2011, European Journal of Human Genetics.