Martina Marangoni

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

G Gambino, Concetta Catalano, Martina Marangoni et al. · Frontiers in Medicine · 2021 · 23 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts

Martina Marangoni, Guillaume Smits, Gilles Ceysens et al. · Genetics in Medicine · 2021 · 20 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

Asma Sassi, Julie Désir, Véronique Janssens et al. · F&S Reports · 2020 · 13 citations · Full text

Medicine, Endocrinology, Genetics +16

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation

Céline De Graer, Martina Marangoni, Stephanie Romnée et al. · European Journal of Medical Genetics · 2019 · 12 citations

Life Sciences, Genetics, Molecular Genetics +17