Author

Amitav Parida

Birmingham Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Pathology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexander J. M. BlakesiD· 2 shared Cas SimonsiD· 2 shared Christel DepienneiD· 2 shared Nicola WhiffiniD· 2 shared Rocío RiusiD· 2 shared Siddharth BankaiD· 2 shared Abhijit DixitiD· 1 shared Adam JacksoniD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Alexander J. M. BlakesORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad, Olivia J. Henry, Angelica Maria Delgado-Vega, Elizabeth Wall, Ola Abdelhadi, Shakti Agrawal, Khadijah Bakur, Edward Blair, Angela F. Brady, Helen K. Brittain, Kate Chandler, Natasha Clarke, Miriana Danelli, , Siddharth Banka

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

Roberta Castelli, Carla Marini, Alessandro Porro, Anna Castellini, Greta Fontana, Andrea Saponaro, Gianpiero L. Cavalleri, Susanna Rizzi, Carlo Fusco, Amitav Parida, Richard C. Caswell, Charlotte Sherlaw, Dario Pruna, Christopher A. Reid, Lauren E. Bleakley, , Anna Moroni

This study functionally classifies HCN1 variants in patients with neurodevelopmental disorders, finding genotype-phenotype correlations and potential therapeutic targets.

bioRxiv · Mar 20, 2026 · PreprintPathology

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard, Christina Anne Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V. Balton, Giulia Barcia, Jonathan Adam Bernstein, Pierre Blanc, Daniel Buchzik, Daniel G. Calame, , Nicola Whiffin

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

medRxiv · Aug 13, 2025 · PreprintGenetic & Genomic Medicine