Siddharth Banka

2024

Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome

Cuvertino, S., Garner, T., Martirosian, E., Walusimbi, B., Kimber, S. J., Banka, S. & Stevens, A., 13 Mar 2024, Cold Spring Harbor Laboratory Press, (bioRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

DDD Study, 21 Aug 2024, Cold Spring Harbor Laboratory Press, (medRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder

Maroni, M. J., Barton, M., Lynch, K., Deshwar, A. R., Campbell, P., Millard, J., Lee, R., Cohen, A., Paranjapye, A., Faundes, V., Repetto, G. M., McKenna, C., Shillington, A. L., Phornphutkul, C., Mancini, G. M., Schot, R., Barakat, T. S., Richmond, C. M., Lauzon, J. & Elsayed Ibrahim, A. I. & 22 others, Benito, D.N.-D., Ortez, C., Estevez-Arias, B., Lecoquierre, F., Cassinari, K., Guerrot, A.-M., Levy, J., Latypova, X., Verloes, A., Innes, A. M., Banka, S., Vill, K., Jacob, M., Kruer, M., Skidmore, P., Galaz-Montoya, C. I., Bakhtiari, S., Mester, J. L., Granato, M., Armache, K.-J., Costain, G. & Korb, E., 2 Nov 2024, Cold Spring Harbor Laboratory Press, (medRxiv).

Research output: Preprint/Working paper › Preprint

2023

A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE

Burghel, G. J., Ellingford, J. M., Wright, R., Bradford, L., Miller, J., Watt, C., Edgerley, J., Naeem, F. & Banka, S., 19 Jul 2023, Cold Spring Harbor Laboratory Press, (medRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Ansari, M., Faour, K. N. W., Shimamura, A., Grimes, G., Kao, E. M., Denhoff, E. R., Blatnik, A., Ben-Isvy, D., Wang, L., Helm, B. M., Firth, H., Breman, A. M., Bijlsma, E. K., Iwata-Otsubo, A., de Ravel, T. J. L., Fusaro, V., Fryer, A., Nykamp, K., Stühn, L. G. & Haack, T. B. & 35 others, Christoph Korenke, G., Constantinou, P., Bujakowska, K. M., Low, K. J., Place, E., Humberson, J., Napier, M. P., Hoffman, J., Juusola, J., Deardorff, M. A., Shao, W., Rockowitz, S., Krantz, I., Kaur, M., Raible, S., Kliesch, S., Singer-Berk, M., Groopman, E., DiTroia, S., Ballal, S., Srivastava, S., Rothfelder, K., Biskup, S., Rzasa, J., Kerkhof, J., McConkey, H., O'Donnell-Luria, A., Sadikovic, B., Hilton, S., Banka, S., Tüttelmann, F., Conrad, D., Talkowski, M. E., FitzPatrick, D. R. & Boone, P. M., 28 Sept 2023, Cold Spring Harbor Laboratory Press, (medRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

Martin-Geary, A. C., Blakes, A. J. M., Dawes, R., Findlay, S. D., Lord, J., Walker, S., Talbot-Martin, J., Wieder, N., D'Souza, E. N., Fernandes, M., Hilton, S., Lahiri, N., Campbell, C., Jenkinson, S., DeGoede, C. G. E. L., Anderson, E. R., Burge, C. B., Sanders, S. J., Ellingford, J. & Baralle, D. & 2 others, Banka, S. & Whiffin, N., 12 Sept 2023, Cold Spring Harbor Laboratory Press, (medRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

2020

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

den Hoed, J., de Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H. & study, T. D. & 78 others, Délot, E. C., Démurger, F., Denommé-Pichon, A.-S., Depienne, C., Donnai, D., Dyment, D. A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Abedi, Y. H., Hanebeck, J., Hehir-Kwa, J. Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K. L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A. A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M. A., Miyatake, S., Mizuguchi, T., Moey, L. H., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T. B., Parker, M., Petersen, A. K., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J. A., Santiago-Sim, T., Schwager, C., Sinnema, M., Blok, L. S., Spillmann, R. C., Stegmann, A. P. A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J. H., Schrier Vergano, S. A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M. C., Zuccarelli, B. D., Kini, U., Newbury, D. F., Kleefstra, T., Reymond, A., Fisher, S. E. & Vissers, L. E. L. M., 24 Oct 2020, bioRxiv, p. 1-24, 24 p.

Research output: Preprint/Working paper › Preprint

Open Access

2019

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Deciphering Developmental Disorders (DDD) Study, 5 Mar 2019, Cold Spring Harbor Laboratory Press, (BioRxiv).

Research output: Preprint/Working paper › Preprint

Open Access

Siddharth Banka, MBBS MRCPCH PhD

Research output

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