Irina Zaharieva
6PUBLICATIONS
95CO-AUTHORS
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Publications (6)
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|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Jul 23, 2022
GGPS1-associated muscular dystrophy with and without hearing loss.Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca
|May 18, 2022
Response of plasma microRNAs to nusinersen treatment in patients with SMA.Irina T Zaharieva, Mariacristina Scoto, Karolina Aragon-Gawinska
|Feb 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Steven Laurie, Davide Piscia, Leslie Matalonga
|Jan 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung
|Sep 01, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.Irina T Zaharieva, Anna Sarkozy, Pinki Munot
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Frequent Collaborators
2 joint publications
Sergi Beltran
2 joint publications
Steven Laurie
2 joint publications
Hanns Lochmüller
2 joint publications
Leslie Matalonga
2 joint publications
Rita Horvath
1 joint publications
Alexander Hoischen
1 joint publications
Lynn Pais
1 joint publications
John Christodoulou
1 joint publications
Karolina Aragon-Gawinska
1 joint publications
Laurent Servais
