Laëtitia Gouas

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

Vincent Probst, Arthur A.M. Wilde, Julien Barc et al. · Circulation Cardiovascular Genetics · 2009 · 315 citations · Full text

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira et al. · Prenatal Diagnosis · 2015 · 303 citations

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy et al. · npj Genomic Medicine · 2017 · 79 citations · Full text

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Céline Pebrel‐Richard, Anne Debost‐Legrand, Éléonore Eymard-Pierre et al. · European Journal of Human Genetics · 2013 · 56 citations · Full text

Gene Deletion Data, Genetic Disorder, Genetics +7

New KCNQ1 mutations leading to haploinsufficiency in a general population1Defective trafficking of a KvLQT1 mutant

Laëtitia Gouas, Chloé Bellocq, Myriam Berthet et al. · Cardiovascular Research · 2004 · 55 citations · Full text