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Dive into the research topics where Anirban Majumdar is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
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Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing
Beatriz Sanchez Marco, S., Pardington, E., Monaghan, M., Spaull, R., Fadilah, A., Kurian, K., Vijayakumar, K., Smithson, S. & Majumdar, A., 9 Sept 2025, (E-pub ahead of print) In: Case Reports in Pediatrics. 6 p., 3604592.Research output: Contribution to journal › Article (Academic Journal) › peer-review
Open Access -
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model
Sanchez Marco, S. B., Buhl, E., Firth, R., Zhu, B., Gainsborough, M., Beleza-Meireles, A., Moore, S., Caswell, R., Stals, K., Ellard, S., Kennedy, C., Hodge, J. J. L. & Majumdar, A., 1 Nov 2022, In: Clinical Genetics. 102, 6, p. 494-502 9 p.Research output: Contribution to journal › Article (Academic Journal) › peer-review
Open AccessFile7 Citations (Scopus)170 Downloads (Pure) -
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Pula, S., Urankar, K., Norman, A., Pierre, G., Langton-Hewer, S., Selby, V., Mason, F., Vijayakumar, K., McFarland, R., Taylor, R. W. & Majumdar, A., Feb 2020, In: Neuromuscular Disorders. 30, 2, p. 159-164 6 p.Research output: Contribution to journal › Article (Academic Journal) › peer-review
9 Citations (Scopus)