Pascale Guicheney

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Genotype-Phenotype Correlation in the Long-QT Syndrome Gene-Specific Triggers for Life-Threatening Arrhythmias

  Peter J. Schwartz;Silvia G Priori;Carla Spazzolini;Arthur J Moss

  2168
  Citations

• Genotype-Phenotype Correlation in the Long-QT Syndrome

  Peter J. Schwartz;Silvia G. Priori;Carla Spazzolini;Arthur J. Moss

  1555
  Citations

• A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

  Patrick Vicart;Patrick Vicart;Anne Caron;Pascale Guicheney;Zhenlin Li;Zhenlin Li

  1283
  Citations

• A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

  Nathalie Neyroud;Frédérique Tesson;Isabelle Denjoy;Michel Leibovici

  1055
  Citations

• An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

  Jamie D. Kapplinger;David J. Tester;Marielle Alders;Begoña Benito

  809
  Citations

• Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

  A Helbling-Leclerc;X Zhang;H Topaloglu;C Cruaud

  744
  Citations

• Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

  Meiso Hayashi;Isabelle Denjoy;Fabrice Extramiana;Alice Maltret

  681
  Citations

• Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

  Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown

  674
  Citations

• Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

  Connie R Bezzina;Julien Barc;Yuka Mizusawa;Carol Ann Remme

  550
  Citations

• KVLQT1 C-Terminal Missense Mutation Causes a Forme Fruste Long-QT Syndrome

  Claire Donger;Isabelle Denjoy;Myriam Berthet;Nathalie Neyroud

  500
  Citations

• Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

  Alex V. Postma;Isabelle Denjoy;Theo M. Hoorntje;Jean-Marc Lupoglazoff

  487
  Citations

• Mutations in dynamin 2 cause dominant centronuclear myopathy.

  Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène

  485
  Citations

• Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

  Ana Ferreiro;Susana Quijano-Roy;Claire Pichereau;Behzad Moghadaszadeh

  440
  Citations

• Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

  Behzad Moghadaszadeh;Nathalie Petit;Céline Jaillard;Martin Brockington

  389
  Citations

• Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

  A. V. Postma;I. Denjoy;J. Kamblock;M. Alders

  345
  Citations

• Properties of KvLQT1 K+ channel mutations in Romano–Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

  Christophe Chouabe;Nathalie Neyroud;Pascale Guicheney;Michel Lazdunski

  341
  Citations

• Hydroquinidine therapy in Brugada syndrome.

  Jean-Sylvain Hermida;Isabelle Denjoy;Jérôme Clerc;Fabrice Extramiana

  330
  Citations

• SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

  Vincent Probst;Arthur A M Wilde;Julien Barc;Frederic Sacher

  329
  Citations

• Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

  Erik Schoenmakers;Maura Agostini;Catherine Mitchell;Nadia Schoenmakers

  316
  Citations

• De Novo LMNA Mutations Cause a New Form of Congenital Muscular Dystrophy

  Susana Quijano-Roy;Blaise Mbieleu;Carsten G. Bönnemann;Pierre Yves Jeannet

  294
  Citations