Prof Siddharth Banka MBBS MRCPCH PhD

Professor of Genomic Medicine and Rare Diseases

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Publications

  1. 2021
  2. Published

    A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy

    Blakes, A. J. M., English, J., Banka, S. & Basu, H., 6 Oct 2021, In: American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

    Genomics England Research Consortium, 3 Aug 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  4. Published

    Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment

    Kar, R. K., Banka, S., Ziegler, A. & Chung, W. K., 17 Jul 2021, In: Amino acids.

    Research output: Contribution to journalReview articlepeer-review

  5. Published

    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    Genomics England Research Consortium, 9 Jul 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  6. Published

    Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

    Thomas, Q., Gautier, T., Marafi, D., Besnard, T., Willems, M., Moutton, S., Isidor, B., Cogné, B., Conrad, S., Tenconi, R., Iascone, M., Sorlin, A., Masurel, A., Dabir, T., Jackson, A., Banka, S., Delanne, J., Lupski, J. R., Saadi, N. W., Alkuraya, F. S. & 22 others, Zahrani, F. A., Agrawal, P. B., England, E., Madden, J. A., Posey, J. E., Burglen, L., Rodriguez, D., Chevarin, M., Nguyen, S., Mau-Them, F. T., Duffourd, Y., Garret, P., Bruel, A-L., Callier, P., Marle, N., Denomme-Pichon, A-S., Duplomb, L., Philippe, C., Thauvin-Robinet, C., Govin, J., Faivre, L. & Vitobello, A., 10 Jun 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  7. Published

    Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

    Genomics England Research Consortium, 3 Jun 2021, In: American Journal of Human Genetics. 108, 6, p. 1083-1094 12 p.

    Research output: Contribution to journalArticlepeer-review

  8. Published

    Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

    Genomics England Research Consortium, 1 Jun 2021, In: American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticlepeer-review

  9. Published

    Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F. & 43 others, Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21 May 2021, In: Genome Medicine. 13, 1, 90.

    Research output: Contribution to journalArticlepeer-review

  10. Published

    Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

    Molina-Ramírez, L. P., Kyle, C., Ellingford, J. M., Wright, R., Taylor, A., Bhaskar, S. S., Campbell, C., Jackson, H., Fairclough, A., Rousseau, A., Burghel, G. J., Dutton, L., Banka, S., Briggs, T. A., Clayton-Smith, J., Douzgou, S., Jones, E. A., Kingston, H. M., Kerr, B., Ealing, J. & 8 others, Somarathi, S., Chandler, K. E., Stuart, H. M., Burkitt-Wright, E. M., Newman, W. G., Bruce, I. A., Black, G. C. & Gokhale, D., 20 Apr 2021, In: Journal of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Faundes, V., Goh, S., Akilapa, R., Bezuidenhout, H., Bjornsson, H. T., Brady, A. F., Brischoux-Boucher, E., Brunner, H., Bulk, S., Canham, N., Cody, D., Dentici, M. L., Digilio, M. C., Elmslie, F., Fry, A. E., Gill, H., Hurst, J., Johnson, D., Julia, S., Lachlan, K. & 22 others, Lebel, R. R., Byler, M., Gershon, E., Lemire, E., Gnazzo, M., Lepri, F. R., Marchese, A., McEntagart, M., McGaughran, J., Mizuno, S., Okamoto, N., Rieubland, C., Sasaki, E., Scalais, E., Scurr, I., Suri, M., van der Burgt, I., Matsumoto, N., Miyake, N., Benoit, V., Lederer, D. & Banka, S., 5 Mar 2021, In: Genetics in Medicine.

    Research output: Contribution to journalArticlepeer-review

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