Dr Anirban Majumdar
Current positions
Honorary Lecturer
Bristol Medical School (PHS)
Contact
Press and media
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Publications
Recent publications
09/09/2025Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing
Case Reports in Pediatrics
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model
Clinical Genetics
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Neuromuscular Disorders
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Nature Genetics
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Journal of neuromuscular diseases
Related people
Professor Kathreena Kurian
Professor of Neuropathology
Bristol Medical School (PHS)
Dr Lucy Jenkins
Lecturer
Bristol Medical School (PHS)
Dr Edgar Buhl
Senior Research Fellow
School of Physiology, Pharmacology & Neuroscience
Emeritus Professor Seth Love
Emeritus Professor
Bristol Medical School (THS)
Dr Robert Spaull
Honorary Senior Research Associate
Bristol Medical School (THS)