Pauline Monin
Lyon College
7 Papers
2 Citations
Pauline Monin is an academic researcher from Lyon College. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 3, co-authored 3 publications.
Chat about Author
Papers
Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
Ash Zawerton,Cyril Mignot,Ashley N. Sigafoos,Patrick R. Blackburn,Abdul Haseeb,Kirsty McWalter,Shoji Ichikawa,Caroline Nava,Boris Keren,Perrine Charles,Isabelle Marey,Anne-Claude Tabet,Jonathan Levy,Laurence Perrin,Andreas Hartmann,Gaetan Lesca,Caroline Schluth-Bolard,Pauline Monin,Sophie Dupuis-Girod,Maria J. Guillen Sacoto,Rhonda E. Schnur,Zehua Zhu,Alice Poisson,Salima El Chehadeh,Yves Alembik,Ange-Line Bruel,Daphné Lehalle,Sophie Nambot,Sebastien Moutton,Sylvie Odent,Sylvie Jaillard,Christèle Dubourg,Yvonne Hilhorst-Hofstee,Tina Barbaro-Dieber,Lucia Ortega,Elizabeth J. Bhoj,Diane Masser-Frye,Lynne M. Bird,Lynne M. Bird,Kristin Lindstrom,Keri Ramsey,Vinodh Narayanan,Emily Fassi,Marcia C. Willing,Trevor Cole,Claire G. Salter,Rhoda Akilapa,Anthony Vandersteen,Natalie Canham,Patrick Rump,Erica H. Gerkes,Jolien S. Klein Wassink-Ruiter,Emilia K. Bijlsma,Mariëtte J.V. Hoffer,Marcelo Vargas,Antonina Wojcik,Florian Cherik,Christine Francannet,Jill A. Rosenfeld,Keren Machol,Daryl A. Scott,Carlos A. Bacino,Xia Wang,Gary D. Clark,Marta Bertoli,Simon Zwolinski,Rhys H. Thomas,Rhys H. Thomas,Ela Akay,Richard Chang,Rebekah Bressi,Rossana Sanchez Russo,Myriam Srour,Laura Russell,Anne-Marie E. Goyette,Lucie Dupuis,Roberto Mendoza-Londono,Catherine Karimov,Maries Joseph,Mathilde Nizon,Benjamin Cogné,Alma Kuechler,Amélie Piton,Eric W. Klee,Véronique Lefebvre,Karl J. Clark,Christel Depienne,Christel Depienne,Christel Depienne +88 more
TL;DR: Evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features is consolidated and extended the clinical and genetic spectrum associated with LAMSHF.
29
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Nicolas Chatron,Gaetan Lesca,Audrey Labalme,Pierre-Antoine Rollat-Farnier,Pauline Monin,E. Pichot,Patrick Edery,Damien Sanlaville,Massimiliano Rossi +8 more
TL;DR: The molecular characterization by whole genome sequencing (WGS) of a two-generation family harboring a novel SFRP4 mutation is reported, confirming the causative role of this gene in Pyle’s disease.
15
DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik,Jack Reilly,Jennifer Kerkhof,Michael D. Levy,H. McConkey,Mouna Barat-Houari,Kameryn M. Butler,Christine Coubes,Jennifer A. Lee,Gwenaël Le Guyader,Raymond J. Louie,Wesley G. Patterson,Matt Tedder,Mads Bak,Trine Bjørg Hammer,William J. Craigen,Florence Demurger,Christèle Dubourg,Mélanie Fradin,Rachel Franciskovich,Eirik Frengen,Jennifer F. Friedman,Nathalie Ruiz Palares,Maria Iascone,Doriana Misceo,Pauline Monin,Sylvie Odent,Christophe Philippe,Flavien Rouxel,Veronica Saletti,Petter Strømme,Perla Thulin,Bekim Sadikovic,David Geneviève +33 more
TL;DR: In this article , the authors performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant of Gabriele-de Vries syndrome (GADEVS) to refine the phenotype and better understand the molecular basis of the syndrome.
9
Genetic causes of rare and common epilepsies: What should the epileptologist know?
Gaetan Lesca,Tobias Baumgartner,Pauline Monin,Angela De Dominicis,Wolfram S. Kunz,Nicola Specchio +5 more
TL;DR: In this article , the authors review the genetic basis of rare and common epilepsies, the current strategies used for molecular diagnosis, including their limitations, and some pitfalls for data interpretation, in the context of etiological diagnosis and genetic counseling.
4