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Genetics
France
2024

D-Index & Metrics

Genetics

D-Index
78
Citations
45245
World Ranking
1660
National Ranking
70

Research.com Recognitions

  • 2024 - Research.com Genetics in France Leader Award

Overview

Jocelyn Laporte is affiliated with the Institute of Genetics and Molecular and Cellular Biology in France. Their research spans multiple fields with a primary focus on Biochemistry, Genetics, and Molecular Biology. They have contributed extensively to Medicine as well, producing a substantial body of work that encompasses both foundational and applied aspects of molecular biology and genetics.

The main subfields in which Jocelyn Laporte has conducted research include Molecular Biology, Cell Biology, Genetics, Cardiology and Cardiovascular Medicine, and Cellular and Molecular Neuroscience. This broad range of expertise underpins their study of various biological and medical topics.

Their research addresses significant topics such as:

  • Muscle Physiology and Disorders
  • Cellular transport and secretion
  • Cardiomyopathy and Myosin Studies
  • Neurogenetic and Muscular Disorders Research
  • Genetic Neurodegenerative Diseases
  • Microtubule and mitosis dynamics
  • Nuclear Structure and Function

Jocelyn Laporte has collaborated frequently with a number of co-authors, notably including Johann Böhm, Roberto Silva-Rojas, Xavière Lornage, David J. Reiss, and Belinda S. Cowling. These collaborations have contributed to a diverse and rich publication portfolio.

The scientist has published primarily in several venues known for their focus on neuromuscular and molecular biology research. Frequent publication outlets include:

  • Neuromuscular Disorders
  • bioRxiv (Cold Spring Harbor Laboratory)
  • JCI Insight
  • Disease Models & Mechanisms
  • Acta Neuropathologica Communications

Notable recent papers authored or co-authored by Jocelyn Laporte include:

  • STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases (2020, Frontiers in Physiology)
  • MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants (2020, PLoS ONE)
  • Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances (2021, International Journal of Molecular Sciences)
  • Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores (2020, The American Journal of Human Genetics)
  • Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy (2022, Nature Communications)

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

    Jocelyn Laporte;Ling Jia Hu;Christine Kretz;Jean-Louis Mandel

  • Mutations in dynamin 2 cause dominant centronuclear myopathy.

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

  • Mutations in amphiphysin 2 ( BIN1 ) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

    Anne-Sophie Nicot;Anne Toussaint;Valérie Tosch;Christine Kretz

  • Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

    H. Azzedine;A. Bolino;T. Taïeb;N. Birouk

  • Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

    Charlotte Fugier;Arnaud F Klein;Caroline Hammer;Stéphane Vassilopoulos

  • Centronuclear (myotubular) myopathy

    Heinz Jungbluth;Heinz Jungbluth;Carina Wallgren-Pettersson;Jocelyn Laporte

  • Control of autophagy initiation by phosphoinositide 3-phosphatase jumpy

    Isabelle Vergne;Esteban Roberts;Rasha A Elmaoued;Valérie Tosch

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

    François Blondeau;Jocelyn Laporte;Stephane Bodin;Giulio Superti-Furga

  • MTM1 mutations in X-linked myotubular myopathy

    Jocelyn Laporte;Valérie Biancalana;Stephan M. Tanner;Wolfram Kress

  • The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

    Anna Buj-Bello;Vincent Laugel;Nadia Messaddeq;Hala Zahreddine

  • Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

    Ozge Ceyhan-Birsoy;Pankaj B. Agrawal;Carlos Hidalgo;Klaus Schmitz-Abe

  • A phosphoinositide conversion mechanism for exit from endosomes

    Katharina Ketel;Michael Krauss;Anne Sophie Nicot;Dmytro Puchkov

  • Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

    Jocelyn Laporte;Florence Bedez;Alessandra Bolino;Jean Louis Mandel

  • T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

    Lama Al-Qusairi;Norbert Weiss;Anne Toussaint;Céline Berbey

  • Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

    Johann Böhm;Frédéric Chevessier;André Maues De Paula;André Maues De Paula;Catherine Koch

Frequent Co-Authors

Jean-Louis Mandel
Jean-Louis Mandel Institute of Genetics and Molecular and Cellular Biology
Bruno Eymard
Bruno Eymard Université Paris Cité
Jean-François Deleuze
Jean-François Deleuze University of Paris-Saclay
Anne Boland
Anne Boland University of Paris-Saclay
Alan H. Beggs
Alan H. Beggs Harvard Medical School
Carina Wallgren-Pettersson
Carina Wallgren-Pettersson University of Helsinki
Ichizo Nishino
Ichizo Nishino Tokyo Medical University
Michel Fardeau
Michel Fardeau Grenoble Alpes University
Anders Oldfors
Anders Oldfors University of Gothenburg

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