Sandra Mercier

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 7

Top Topics

Duchenne Muscular Dystrophy

Extracorporeal Membrane Oxygenation

Top Venues

Neurology. Clinical practice

Medecine sciences : M/S

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, L Allach El Khattabi, Ingrid M B H van de Laar, Rafik Tadros, Connie R Bezzina, Marjon van Slegtenhorst, Janneke A E Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddhartha Banka, Anke van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J Lockhart, Myla Ashfaq, Elizabeth McCready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandarà, Francesca Mari, Flavia Privitera, Ilaria Longo, Aurora Currò, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Beneteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa Lese Martin, Katrin Mannik, Alexandre Reymond, Laurence Olivier-Faivre, Erik A Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh D Girirajan
Genetic modifiers and ascertainment drive variable expressivity of complex disorders. medRxiv : the preprint server for health sciences (2024)
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bérénice Toutain, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]. Medecine sciences : M/S 40 (2) (2024)
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, Sandra Mercier, Virginie Vignard, Bérénice Toutain, Bertrand Isidor, Sébastien Küry, Frédéric Ebstein
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]. Medecine sciences : M/S 40 (2) (2024)
Julia Guillou, Alice de Pellegars, Florence Porcheret, Véronique Frémeaux- Bacchi, Emma Allain-Launay, Camille Debord, Manon Denis, Yann Péréon, Christine Barnérias, Isabelle Desguerre, Gwenaëlle Roussey, Sandra Mercier
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy. Blood advances 6 (14) (2022)
Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Geneviève Gourdon, Stéphanie Tomé
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1. International journal of molecular sciences 22 (5) (2021)