P. Goussard

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

Éric Pasmant, Béatrice Parfait, Armelle Luscan et al. · European Journal of Human Genetics · 2014 · 119 citations · Full text

Large Gene, Molecular Diagnosis, Mendelian Disorder +13

<i>SPRED1</i> germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Éric Pasmant, Audrey Sabbagh, Nadine Hanna et al. · Journal of Medical Genetics · 2009 · 118 citations · Full text

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

Éric Pasmant, P. Goussard, Laetitia Baranes et al. · European Journal of Human Genetics · 2011 · 54 citations · Full text

First Description, Genetics, Pathology +3

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

Éric Pasmant, Brigitte Gilbert‐Dussardier, Arnaud Petit et al. · Oncogene · 2014 · 53 citations

Hematological Malignancy, Mixed-phenotype Acute Leukemia, Malignant Blood Disorder +11

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

Armelle Luscan, P-A. Just, Audrey Briand et al. · British Journal of Ophthalmology · 2014 · 35 citations