Siddharth Banka, MBBS MRCPCH PhD

Search results

• 2024

  Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

  Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K., Li, Y., Wollnik, B. & Yigit, G., Jan 2024, In: European Journal of Human Genetics. 32, p. 520-520 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

  Genomics England Res Consortium, Jan 2024, In: European Journal of Human Genetics. 32, p. 74-74 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• EP09.039 KMT2C pathogenic variants result in a neurodevelopmental disorder with distinct clinical and DNA methylation features

  Rots, D., Choufani, S., Faundes, V., Dingemans, A., Vissers, L., Kleefstra, T., Banka, S. & Weksberg, R., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 188 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P09.039.C Refining pathogenic RAC1 switch II variants

  Althebaiti, H., Banka, S. & Millard, T., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 467 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy

  Harkness, R., McDermott, J., Metcalfe, K., Macken, W., Sabir, A., Santra, S., Urquhart, J., Demain, L., Maroofian, R., Zamani, M., Record, C., Yue, W., Byers, H., Pitceathly, R., Taylor, R., Banka, S., Reilly, M., O'Keefe, R. & Newman, W., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 483 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P11.010.B Zebrafish models of complex hereditary spastic paraplegia caused by variants in the Kennedy pathway gene, PCYT2

  Yarwood, R., Lowe, M., Nicolaou, A. & Banka, S., 8 Jan 2024, In: European Journal of Human Genetics. 32, p. 516 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P21.005.A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance

  Godfrey, M., Levy, M., Leonardi, E., Campbell, C., Demain, L., Jenkinson, S., Hilton, S., Castillo, B., Balasubramanian, M., Bijlsma, E., Burkitt-Wright, E., Cappuccio, G., Chandler, K., Devriendt, K., Haanpää, M., Hörnig, C., Jones, E., Kocagil, S., Koillinen, H. & Narayanan, D. & 14 others, Madhu, R., Majethia, P., Murgia, A., Rosser, E., Schülke-Gerstenfeld, M., Shukla, A., Soengas-Gonda, E., Sznajer, Y., Venancio, M., Wright, T., Gokhale, D., Sadikovic, B., Houge, S. & Banka, S., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 721 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P21.006.B Cell organization and organ development defects in Kabuki-KMT2D mutant stem cells

  Cuvertino, S., Martirosian, E., Garner, T., Donaldson, I., Stevens, A., Sharrocks, A., Kimber, S. & Banka, S., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 721-722 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access

• P21.011.C Hypernetwork analysis: A novel approach for epigenome analysis, with Kabuki syndrome as an exemplar

  Martirosian, E., Cuvertino, S., Garner, T., Walusimbi, B., Kimber, S., Banka, S. & Stevens, A., 8 Jan 2024, In: European Journal of Human Genetics. 32, Supplement 1, p. 723-724 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

  Open Access
• 2023

  748.1 Characterizing the ATP6V0C epilepsy phenotype: a new gene associated with genetic epilepsy with febrile seizures plus spectrum

  Morcos, R., Macias-Sedas, P., Obrocki, R., Beltráan-Corbellini, A., Garcíia-Morales, I., Toledano, R., Gil-Nagel, A., Breckpot, J., McCann, E., Morleo, M., Kharbanda, M., Hoi-Hansen, C., Hammer, T., Banka, S., Campeau, P., Mattison, K., Escayg, A., Moller, R. & Aledo-Serrano, A., Nov 2023, In: Epilepsia. 64, S2, p. 387-387 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• C04.2 Genetic and mechanistic dissection of non-muscle actinopathies caused by ACTB or ACTG1 variants

  Di Donato, N., Thom, A., Nma Consortium, Seifert, M., Greve, J., Kreimer, I., Kropp, M., Niehaus, I., König, M., Taft, M., Heide, M., Krause, K., Schrock, E., Cuvertino, S., Zeef, L., Meinhardt, A., Santos-Simarro, F., Costales, M., Cadiñanos, J. & Cabanillas, R. & 10 others, Wollnik, B., Hoffjan, S., Tezcan, K., Fry, A., Pilz, D., Mancini, G., Verloes, A., Rump, A., Manstein, D. & Banka, S., 11 May 2023, In: European Journal of Human Genetics. 31, p. 16-17 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• C08.1 Activating RAC1 variants in the switch II region cause a novel developmental syndrome and alter neuronal morphology that can be rescued by targeting CYFIP

  Banka, S., Bennington, A., Rijckmans, E., Clemente, G., Ansor, N., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Jansen, A., Krantz, I., Rieubland, C., Rudy, N., Sanz, J., Stouffs, K., Malliri, A. & Kazanietz, M., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 27 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• C19.3 Clinical, genetic, epidemiologic and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14

  Jackson, A., Jones, E., Haider, Z., Stewart, H., Donnelly, D., Lovell, S., Drosou, K., Petree, C., Loveless, M., Varshney, G. & Banka, S., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 54-55 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• C20.1The impact of germline inversions in the rare-disease arm of the 100,000 Genomes Project

  Pagnamenta, A., Wafik, M., Hay, E., Bockenhauer, D., Clement, E., Lahiri, N., McEntagart, M., Majumdar, A., Devaiah, S., Risby, P., Van Dijk, F., Banka, S., Blair, E. & Javaid, K., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 56-57 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• EP20.009 Population genomics and evolutionary gene order preservation elucidate major differences between cytoplasmic actin isoforms on genomic level

  Rump, A., Banka, S. & Di Donato, N., 11 May 2023, In: European Journal of Human Genetics. 31, p. 310-311 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Mouse in vivo and in vitro models to understand neural pathobiology associated with ACTB loss of function

  Thom, A., Lopes, F., Zeef, L., Lawrence, C., Roberts, N., Woolf, A. & Banka, S., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 516-517 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• P09.010.B Comparison of methylation epi-signatures in KMT2B and KMT2D-related human disorders

  Lee, S., Ochoa, E., Barwick, K., Cif, L., Rodger, F., Docquier, F., Perez, B., Banka, S., Kurian, M. & Maher, E., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 447-448 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• P09.031.C Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis

  Rots, D., Yamada, A., Mccon-Key, H., Kerkhof, J., Alders, M., Maystadt, I., Balasubramanian, M., Merla, G., San-ten, G., Belonis, A., Bouman, A., Kummeling, J., Heijligers, M., van Haelst, M., Metcalfe, K., Geneviève, D., Chatron, N., Putoux, A., Pasquier, L. & Dubourg, C. & 25 others, Strobl-Wildemann, G., Plomp, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Cappuccio, G., Brunetti-Pierri, N., Van Hagen, A., Bijlsma, E., Firth, H., Forzano, F., Kalsner, L., Hol, J., Courage, C., Vanhoutte, E., Banka, S., Venselaar, H., Kasri, N., van Bokhoven, H., Brunner, H., Vissers, L., Shinkai, Y., Sadikovic, B. & Kleefstra, T., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 456-457 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• P13.087.A Germline intergenic duplications at Xq26.1 cause an inherited basal cell carcinoma susceptibility syndrome

  Banka, S., Hardman, J., Pye, D., Torrelo, A., Beaman, G., Kazanietz, M., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Miedzybrodzka, Z., Abuzahra, F., Ruebben, A., Cuvertino, S., Ellingford, J., Evans, D., Weppner-Parren, L., van Steensel, M., Mangham, D. & Lear, J. & 3 others, Paus, R., Frank, J. & Newman, W., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 555-555 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• P21.024.D Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

  Levy, M., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Haghshenas, S., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Mannens, M., Roscioli, T., Siu, V., Amor, D., Baynam, G., Bend, E., Boycott, K., Brunetti-Pierri, N. & Campeau, P. & 20 others, Christodoulou, J., Dyment, D., Esber, N., Fahrner, J., Genèvieve, D., Kerrnohan, K., McNeill, A., Menke, L., Faivre, L., Merla, G., Prontera, P., Rockman, C., Schwartz, C., Skinner, S., DuPont, B., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. & Sadikovic, B., 11 May 2023, In: European Journal of Human Genetics. 31, S1, p. 657-658 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review
• 2022

  <i>SPEN</i> haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

  Radio, F., Ciolfi, A., Levy, M., Pedace, L., de Boer, E., Stellacci, E., Lo Cicero, S., Dentici, M., McWalter, K., Sanchez-Lara, P., Lindstrom, K., Madan-Khetarpal, S., MacKenzie, J., Monteleone, B., Sawyer, S., Monteiro, F., Macke, E., Iascone, M., Selicorni, A. & Tenconi, R. & 22 others, Amor, D., Stals, K., Cabet, S., Steindl, K., Weiss, K., Castle, A., Kalsner, L., Sheehan, W., Shinde, D., Goodloe, D., Bluske, K., Faletra, F., Kurtz-Nelson, E., Anderlid, B., Barakat, T., Faivre, L., Banka, S., Priolo, M., Dallapiccola, B., Vissers, L., Sadikovic, B. & Tartaglia, M., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 25-26 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Clinical delineation, sex differences and genotype-phenotype correlation in pathogenic <i>KDM6A</i> variants causing X-linked Kabuki syndrome Type 2

  Faundes, V., Akilapa, R., Bezuidenhout, H., Bjornsson, H., Brady, A., Brischoux-Boucher, E., Brunner, H., Bulk, S., Canham, N., Cody, D., Dentici, M., Digilio, M., Elmslie, F., Fry, A., Gill, H., Julia, S., Lachlan, K., Lebel, R., Byler, M. & Gershon, E. & 18 others, Lemire, E., Gnazzo, M., Lepri, F., Marchese, A., McEntagart, M., McGaughran, J., Mizuno, S., Rieubland, C., Sasaki, E., Scalais, E., Scurr, I., Suri, M., van der Burgt, I., Matsumoto, N., Miyake, N., Benoit, V., Lederer, D. & Banka, S., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 24-25 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Haploinsuffiency of <i>ARFGEF1</i> is associated with developmental delay, intellectual disability and epilepsy with variable expressivity

  Thomas, Q., Gauthier, T., Marafi, D., Bernard, T., Willems, M., Moutton, S., Isidor, B., Cogné, B., Conrad, S., Tenconi, R., Iascone, M., Sorlin, A., Masurel, A., Dabir, T., Banka, S., Delanne, J., Lupski, J., Saadi, N., Alkuraya, F. & Al Zahrani, F. & 17 others, Posey, J., Burglen, L., Rodriguez, D., Chevarin, M., Mau-Them, F., Duffourd, Y., Garret, P., Bruel, A., Callier, P., Marle, N., Denomme-Pichon, A., Duplomb, L., Philippe, C., Thauvin-Robinet, C., Govin, J., Faivre, L. & Vitobello, A., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 229-230 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Impaired eIF5A function causes a novel developmental syndrome partially rescued in model systems by spermidine

  Faundes, V., Crilly, S., Legraie, S., Cuvertino, S., Fry, A., Harrison, V., Amiel, J., Lehalle, D., Newman, W., Newkirk, P., Splitt, M., Ranells, J., Cross, L., Sullivan, B., Granadillo, J., Kasher, P., Pavitt, G. & Banka, S., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 23-23 1 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in <i>GSN</i> causing novel cutaneous-visceral organ Gelsolin amyloidosis

  Genomics England Res Consortium, Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 155-156 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review

• Solve-RD: the ITHACA perspective

  Denommé-Pichon, A., de Boer, E., Benetti, E., Banka, S., Casari, G., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Ellwanger, K., Faivre, L., Gilissen, C., Graessner, H., Haack, T., Hammarsjö, A., Havlovicova, M., Hoischen, A., Hugon, A., Kleefstra, T., Lindstrand, A. & López-Martín, E. & 23 others, Macek, M., Matalonga, L., Morleo, M., Nigro, V., Nordgren, A., Pettersson, M., Pinelli, M., Pizzi, S., Posada, M., Radio, F., Renieri, A., Rooryck, C., Ryba, L., Tartaglia, M., Thauvin, C., Torella, A., Trimouille, A., Votypka, P., Vyshka, K., Zurek, B., Verloes, A., Vitobello, A. & Vissers, L., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 236-237 2 p.

  Research output: Contribution to journal › Meeting Abstract › peer-review