Irina T Zaharieva (Irina Zaharieva)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 6

Top Topics

Myasthenia Gravis

Autism Spectrum Disorder

Ejection Fraction

Top Venues

Annals of clinical and translational neurology

medRxiv : the preprint server for health sciences

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

Publications

Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung, Irina T Zaharieva, Adnan Manzur, Stephanie P DiTroia, Silvio Alessandro Di Gioia, Lynn S Pais, Veronica Pini, Brenda J Barry, Wai-Man Chan, James E Elder, John Chrisodoulou, Eleanor Hay, Eleina M England, Pinki Munot, David G Hunter, Lucy Feng, Danielle Ledoux, Anne H O'Donnell-Luria, Rahul Phadke, Elizabeth C Engle, Anna Sarkozy, Francesco Muntoni
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human mutation 43 (4) (2022)
Rauan Kaiyrzhanov, Luke Daniel Perry, Clarissa Rocca, Maha S Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina T Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier-Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian
GGPS1-associated muscular dystrophy with and without hearing loss. Annals of clinical and translational neurology 9 (9) (2022)
Irina T Zaharieva, Mariacristina Scoto, Karolina Aragon-Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou
Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of clinical and translational neurology 9 (7) (2022)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Irina T Zaharieva, Anna Sarkozy, Pinki Munot, Adnan Manzur, Gina O'Grady, John Rendu, Eduardo Malfatti, Helge Amthor, Laurent Servais, J Andoni Urtizberea, Osorio Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A Reghan Foley, Chris Holmes, Glyn Williams, Muriel Holder, Sabrina Yum, Livija Medne, Susana Quijano-Roy, Norma B Romero, Julien Fauré, Lucy Feng, Laila Bastaki, Mark R Davis, Rahul Phadke, Caroline A Sewry, Carsten G Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, Francesco Muntoni
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation 39 (12) (2018)