Laurence Pacot

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Raphaël Leman, Béatrice Parfait, Dominique Vidaud et al. · Human Mutation · 2022 · 84 citations · Full text

Severe Phenotype in Patients with Large Deletions of NF1

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh et al. · Cancers · 2021 · 38 citations · Full text

Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors

Julia Herrou, Axelle Salcion Picaud, Louis Lassalle et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 27 citations

Should we genotype the sperm of fathers from patients with ‘de novo’ mutations?

Éric Pasmant, Laurence Pacot · European Journal of Endocrinology · 2019 · 17 citations

Genetic Testing, Fertility, Genetics +16

Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in Clinically Amyopathic Dermatomyositis Patients: Report of Two Cases With Distinct Clinical Features

Laurence Pacot, J. Pouchot, Nicolas de Prost et al. · Frontiers in Medicine · 2020 · 16 citations · Full text

Autoimmune Disease, Medicine, Immunodeficiencies +12