Siddharth Banka

Siddharth Banka, MBBS MRCPCH PhD

Prof, MBBS, MRCPCH, CCT (Clinical Genetics), PhD

 https://orcid.org/0000-0002-8527-2210
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  • 2024

    Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

    Deciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, 1 Feb 2024, In: Genetics in medicine : official journal of the American College of Medical Genetics. 26, 2, 18 p., 101023.

    Research output: Contribution to journal › Article › peer-review

  • Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

    SYNAPS Study Group, 4 Jan 2024, In: American Journal of Human Genetics. 111, 1, p. 200-210 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

    Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H. & Kuechler, A. & 69 others, Elffers, B., van Beeck Calkoen, R., Hofman, S., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S.-M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1605-1625 21 p.

    Research output: Contribution to journal › Article › peer-review

  • Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

    Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Donker Kaat, L., Douzgou Houge, S., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Louie, R. J. & Motazacker, M. M. & 14 others, Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., 1 May 2024, In: Genetics in medicine : official journal of the American College of Medical Genetics. 26, 5, p. 101075 17 p., 101075.

    Research output: Contribution to journal › Article › peer-review

  • Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

    Haghshenas, S., Putoux, A., Reilly, J., Levy, M. A., Relator, R., Ghosh, S., Kerkhof, J., McConkey, H., Edery, P., Lesca, G., Besson, A., Coubes, C., Willems, M., Ruiz-Pallares, N., Barat-Houari, M., Tizzano, E. F., Valenzuela, I., Sabbagh, Q., Clayton-Smith, J. & Jackson, A. & 5 others, O'Sullivan, J., Bromley, R., Banka, S., Genevieve, D. & Sadikovic, B., 29 Jul 2024, (E-pub ahead of print) In: Genetics in medicine : official journal of the American College of Medical Genetics. p. 101226

    Research output: Contribution to journal › Article › peer-review

  • DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

    Trajkova, S., Kerkhof, J., Sebastiano, M. R., Pavinato, L., Ferrero, E., Giovenino, C., Carli, D., Di Gregorio, E., Marinoni, R., Mandrile, G., Palermo, F., Carestiato, S., Cardaropoli, S., Pullano, V., Rinninella, A., Giorgio, E., Pippucci, T., Dimartino, P., Rzasa, J. & Rooney, K. & 12 others, McConkey, H., Petlichkovski, A., Pasini, B., Sukarova-Angelovska, E., Campbell, C. M., Metcalfe, K., Jenkinson, S., Banka, S., Mussa, A., Ferrero, G. B., Sadikovic, B. & Brusco, A., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, 100309.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Heterozygous loss-of-function SMC3 variants are associated with variable 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. & 36 others, Korenke, G. C., 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., Dortenzio, V., Kliesch, S., Singer-Berk, M., Groopman, E., DiTroia, S., Ballal, S., Srivastava, S., Rothfelder, K., Biskup, S., Rzasa, J., Kerkhof, J., McConkey, H., Sadikovic, B., Hilton, S., Banka, S., Tüttelmann, F., Conrad, D., O'Donnell-Luria, A., Talkowski, M. E., FitzPatrick, D. R. & Boone, P. M., 11 Apr 2024, In: Human Genetics and Genomics Advances. 5, 2, 18 p., 100273.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    MKHK Research Consortium, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, 100287.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

    Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S.-M., Jewell, R., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M., Ockeloen, C. W. & Diets, I. J. & 81 others, Nizon, M., Vincent, M., Cogné, B., Besnard, T., Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C., Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M., Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E., Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E., Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B., Guimier, A., Marijon, P., Vries, B. B. A. D., Motter, C. S., Mendelsohn, B. A., Coffino, S., Gerkes, E. H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E., Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H., Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S., Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H., Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey, I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman, A., Roifman, M., Amorós Rodríguez, M. I., Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R. & Banka, S., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1626-1642 17 p.

    Research output: Contribution to journal › Article › peer-review

  • Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Demidov, G., Laurie, S., Torella, A., Piluso, G., Scala, M., Morleo, M., Nigro, V., Graessner, H., Banka, S., Macaya, A., Pérez-Dueñas, B., Jackson, A., Stevanin, G., Agathe, J.-M. D. S., Havlovicová, M., Horvath, R., Pinelli, M., Os, N. J. H. V., Warrenburg, B. P. C. V. D. & Denommé-Pichon, A.-S. & 22 others, Savarese, M., Johari, M., Dallapiccola, B., Tartaglia, M., Pauly, M. G., Sommer, A. K., Haack, T. B., Töpf, A., Didier, L., Fallerini, C., Renieri, A., Chinnery, P. F., Benito, D.N.-D., Nascimento, A., Trimouille, A., Munell, F., Marcé-Grau, A., Rabah, B. Y., Bonne, G., Vondel, L. V. D., Lohmann, K. & Ossowski, S., 1 Aug 2024, In: European Journal of Human Genetics. 32, 8, p. 998-1004 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Systematic reanalysis 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., 11 Apr 2024, In: Journal of Medical Genetics. p. jmg-2023-109559 109559.

    Research output: Contribution to journal › Article › peer-review

  • The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    Pagnamenta, A. T., Walker, S., Noble, A. J., Lord, J., Dutta, P., Hashim, M., Camps, C., Green, H., Devaiah, S., Nashef, L., Parr, J., Fratter, C., Ibnouf Hussein, R., Lalloo, F., Waite, A., Evans, J., Allen, Z., Perez-Becerril, C., Hart, R. & Taylor, J. & 38 others, Bedenham, T., Clement, E., Blair, E., Hay, E., Forzano, F., Canham, N., Majumdar, A., McEntagart, M., Lahiri, N., Stewart, H., Calpena, E., Jackson, A., Banka, S., Titheradge, H., McGowan, R., Rankin, J., Shaw-Smith, C., Evans, D. G., Burghel, G. J., Smith, M. J., Anderson, E., Madhu, R., Firth, H., Ellard, S., Brennan, P., Taupin, D., Rogers, M. T., Cook, J. A., Durkie, M., East, J. E., Fowler, D., Wilson, L., Igbokwe, R., Gardham, A., Tomlinson, I., Baralle, D., Uhlig, H. H. & Taylor, J. C., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1140-1164 25 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

    Genomics England Research Consortium, 7 Mar 2024, In: American Journal of Human Genetics. 111, 3, p. 487-508 22 p.

    Research output: Contribution to journal › Article › peer-review

  • 2023

    AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

    AMFR consortium, Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G. & Lütjohann, D. & 31 others, Jacobs, E. H., Houlden, H., Pagnamenta, A. T., Metcalfe, K., Jackson, A., Banka, S., De Simone, L., Schwaede, A., Kuntz, N., Palculict, T. B., Abbas, S., Umair, M., AlMuhaizea, M., Colak, D., AlQudairy, H., Alsagob, M., Pereira, C., Trunzo, R., Karageorgou, V., Bertoli-Avella, A. M., Bauer, P., Bouman, A., Hoefsloot, L. H., van Ham, T. J., Issa, M., Zaki, M. S., Gleeson, J. G., Willemsen, R., Kaya, N., Arold, S. T. & Maroofian, R., 1 Aug 2023, In: Acta Neuropathologica. 146, 2, p. 353-368 16 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

    Sitaram, S., Banka, H. C., Vassallo, G., Pavaine, J., Fairclough, A., Wright, R., Fairbanks, L., Bierau, J., Bowden, L., Schwahn, B., Horman, A. & Banka, S., 1 Jan 2023, In: American Journal of Medical Genetics. Part A. 191, 1, p. 234-237 4 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

    Solve-RD DITF-ITHACA, Solve-RD SNV-indel working group, Solve-RD Consortia, Orphanomix Group, Denommé-Pichon, A.-S., Matalonga, L., de Boer, E., Jackson, A., Benetti, E., Banka, S., Bruel, A.-L., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., Duffourd, Y., Ellwanger, K., Fallerini, C., Gilissen, C., Graessner, H. & Haack, T. B. & 30 others, Havlovicova, M., Hoischen, A., Jean-Marçais, N., Kleefstra, T., López-Martín, E., Macek, M., Mencarelli, M. A., Moutton, S., Pfundt, R., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Safraou, H., Tartaglia, M., Thauvin-Robinet, C., Thevenon, J., Mau-Them, F. T., Trimouille, A., Votypka, P., de Vries, B. B. A., Willemsen, M. H., Zurek, B., Verloes, A., Philippe, C., Vitobello, A., Vissers, L. E. L. M. & Faivre, L., 1 Apr 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 4, 15 p., 100018.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases

    Ciucă, A., Banka, S., Newman, W. G., Moldovan, R. & Kirkham, J. J., 1 Sept 2023, In: Journal of Clinical Epidemiology. 161, p. 84-93 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

    Genomics England Res Consortium, 1 Apr 2023, In: Brain : a journal of neurology. 146, 4, p. 1357-1372 16 p., awac330.

    Research output: Contribution to journal › Article › peer-review

    Open Access
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  • Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

    Jackson, A., Moss, C., Chandler, K. E., Balboa, P. L., Bageta, M. L., Petrof, G., Martinez, A. E., Liu, L., Guy, A., Mellerio, J. E., Lee, J. Y. W., Ogboli, M., Ryan, G., Genomics England Research Consortium, McGrath, J. A. & Banka, S., 23 Jan 2023, In: The British journal of dermatology. 188, 1, p. 75-83 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

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

    Genomics England Research Consortium, Jackson, A., Lin, S.-J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K. & Varshney, G. K. & 1 others, Banka, S., 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, p. 100186 100186.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

    Nayak, S. S., Harkness, R., Shukla, A., Banka, S., Newman, W. G. & Girisha, K. M., Mar 2023, In: American Journal of Medical Genetics. Part A. 191, 3, p. 730-741 12 p.

    Research output: Contribution to journal › Article › peer-review

  • Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

    Queen Square Genomics, Genomics England Research Consortium, Morsy, H., Benkirane, M., Cali, E., Rocca, C., Zhelcheska, K., Cipriani, V., Galanaki, E., Maroofian, R., Efthymiou, S., O'Driscoll, M., Suri, M., Banka, S., Clayton-Smith, J., Redman, M., Bassetti, J. A., Nizon, M., Cogne, B. & Jamra, R. A. & 30 others, Bartolomaeus, T., Heruth, M., Krey, I., Gburek-Augustat, J., Wieczorek, D., Gattermann, F., Mcentagart, M., Goldenberg, A., Guyant-Marechal, L., Garcia-Moreno, H., Giunti, P., Chabrol, B., Bacrot, S., Buissonnière, R., Magry, V., Gowda, V. K., Srinivasan, V. M., Melegh, B., Szabó, A., Sümegi, K., Cossée, M., Ziff, M., Butterfield, R., Hunt, D., Bird-Lieberman, G., Hanna, M., Koenig, M., Stankewich, M., Vandrovcova, J. & Houlden, H., 1 Jan 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 1, p. 76-89 14 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

    CLCN4 concortium, Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A. & Ceulemans, B. & 78 others, Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C. S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T. B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L. J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Fleming, E., El Chehadeh, S., Spitz, M.-A., Piton, A., Gerard, B., Warde, M.-T. A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J. M., Sands, T. T., Wilson, G. N., Silvertooth, E. J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M. T., Rohena, L., Willemsen, M. H., Ockeloen, C. W., Pfundt, R., Kroft, S. D., Field, M., Laranjeira, F. E. R., Fortuna, A. M., Soares, A. R., Michaud, V., Naudion, S., Golla, S., Weaver, D., Bird, L. M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P. M., Blazo, M., Bijlsma, E. K., Rosenfeld, J. A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S. S., Armstrong, R. & Kalscheuer, V. M., 1 Feb 2023, In: Molecular psychiatry. 28, 2, p. 668-697 30 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

    Genomic England Research Consortium, 11 Jul 2023, In: Nature Communications. 14, 1, 4109.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

    Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M. & Gillentine, M. A. & 17 others, Goodloe, D. H., Haack, T. B., Jain, M., Krantz, I., Luu, S. M., McPheron, M., Muss, C. L., Raible, S. E., Robin, N. H., Sweetser, D. A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y. & van Esbroeck, A. C. M., 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1414-1435 22 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

    Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G. S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K. M., Li, Y., Wollnik, B. & Yigit, G., 1 Apr 2023, In: Human Genetics. 142, 4, p. 543-552 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

    Accogli, A., Zaki, M. S., Al-Owain, M., Otaif, M. Y., Jackson, A., Argilli, E., Chandler, K. E., De Goede, C. G. E. L., Cora, T., Alvi, J. R., Eslahi, A., Asl Mohajeri, M. S., Ashtiani, S., Au, P. Y. B., Scocchia, A., Alakurtti, K., Pagnamenta, A. T., Toosi, M. B., Karimiani, E. G. & Mojarrad, M. & 26 others, Arab, F., Duymuş, F., Scantlebury, M. H., Yeşil, G., Rosenfeld, J. A., Türkyılmaz, A., Sağer, S. G., Sultan, T., Ashrafzadeh, F., Zahra, T., Rahman, F., Maqbool, S., Abdel-Hamid, M. S., Issa, M. Y., Efthymiou, S., Bauer, P., Zifarelli, G., Salpietro, V., Al-Hassnan, Z., Banka, S., Sherr, E. H., Gleeson, J. G., Striano, P., Houlden, H., Severino, M. & Maroofian, R., 17 Aug 2023, In: Brain Communications. 5, 5, fcad222.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

    Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D. & March, M. & 97 others, Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z. X., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Au, M., Faivre, L., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Dredge, D., Pier, D., Wortmann, S., Kamsteeg, E.-J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.-S., Weber, S., Pérez de la Fuente, R., Sánchez Del Pozo, J., Lezana Rosales, J. M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk, Ø. L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J. & Stessman, H. A. F., 10 Mar 2023, In: Science Advances. 9, 10, eade1463.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

    Guo, L., Salian, S., Xue, J.-Y., Rath, N., Rousseau, J., Kim, H., Ehresmann, S., Moosa, S., Nakagawa, N., Kuroda, H., Clayton-Smith, J., Wang, J., Banka, S., Jackson, A., Wei, Z.-J., Hüning, I., Brunet, T., Ohashi, H., Thomas, M. F. & Bupp, C. & 17 others, Miyake, N., Matsumoto, N., Mendoza-Londono, R., Costain, G., Hahn, G., Di Donato, N., Yigit, G., Yamada, T., Nishimura, G., Ansel, K. M., Wollnik, B., Hrabě de Angelis, M., Mégarbané, A., Rosenfeld, J. A., Heissmeyer, V., Ikegawa, S. & Campeau, P. M., 6 Jul 2023, In: American Journal of Human Genetics. 110, 7, p. 1068-1085 18 p.

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  • PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing

    Cikes, D., Elsayad, K., Sezgin, E., Koitai, E., Ferenc, T., Orthofer, M., Yarwood, R., Heinz, L. X., Sedlyarov, V., Miranda, N. D., Taylor, A., Grapentine, S., Al-Murshedi, F., Abot, A., Weidinger, A., Kutchukian, C., Sanchez, C., Cronin, S. J. F., Novatchkova, M. & Kavirayani, A. & 18 others, Schuetz, T., Haubner, B., Haas, L., Hagelkruys, A., Jackowski, S., Kozlov, A., Jacquemond, V., Knauf, C., Superti-Furga, G., Rullman, E., Gustafsson, T., McDermot, J., Lowe, M., Radak, Z., Chamberlain, J. S., Bakovic, M., Banka, S. & Penninger, J. M., 20 Mar 2023, In: Nature Metabolism.

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  • Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

    Undiagnosed Disease Network, Nil, Z., Deshwar, A. R., Barish, S., Zhang, X., Choufani, S., Le Quesne Stabej, P., Hayes, I., Yap, P., Haldeman-Englert, C., Wilson, C., Prescott, T., Tveten, K., Vøllo, A., Haynes, D., Wheeler, P. G., Zon, J., Cytrynbaum, C., Jobling, R. & Blyth, M. & 15 others, Banka, S., Afenjar, A., Mignot, C., Robin-Renaldo, F., Keren, B., Kanca, O., Mao, X., Wegner, D. J., Sisco, K., Shinawi, M., Wangler, M. F., Weksberg, R., Yamamoto, S., Costain, G. & Bellen, H. J., 2 Nov 2023, In: American Journal of Human Genetics. 110, 11, p. 1919-1937 19 p.

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  • Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

    Genomics England Research Consortium, 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 120-145 26 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Pagnamenta, A. T., Camps, C., Giacopuzzi, E., Hashim, M., Calpena, E., Kaisaki, P. J., Hashimoto, A., Sanders, E., Schwessinger, R., Hughes, J. R., Lunter, G., Dreau, H., Ferla, M., Lange, L., Kesim, Y., Ragoussis, V., Vavoulis, D. V., Allroggen, H., Ansorge, O. & Babbs, C. & 71 others, Banka, S., Baños-Piñero, B., Beeson, D., Ben-Ami, T., Bento, C., Blair, E., Brasch-Andersen, C., Bull, K. R., Cario, H., Cilliers, D., Conti, V., Davies, E. G., Dhalla, F., Dacal, B. D., Dong, Y., Dunford, J. E., Guerrini, R., Harris, A. L., Hartley, J., Hollander, G., Javaid, K., Kane, M., Kelly, D., Knight, S. J. L., Kreins, A. Y., Kvikstad, E. M., Langman, C. B., Lester, T., Lines, K. E., Lord, S. R., Lu, X., Mansour, S., Manzur, A., Maroofian, R., Marsden, B., Mason, J., McGowan, S. J., Mei, D., Mlcochova, H., Murakami, Y., Okoli, S., Ormondroyd, E., Ousager, L. B., Palace, J., Patel, S. Y., Pentony, M. M., Pugh, C., Rad, A., Ramesh, A., Riva, S. G., Roberts, I., Roy, N., Salminen, O., Schilling, K. D., Scott, C., Sen, A., Smith, C., Stevenson, M., Thakker, R. V., Twigg, S. R. F., Uhlig, H. H., van Wijk, R., Vona, B., Wall, S., Watkins, H., Zak, J., Schuh, A. H., Kini, U., Wilkie, A. O. M., Popitsch, N. & Taylor, J. C., 9 Nov 2023, In: Genome Medicine. 15, 1, 94.

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    Open Access

  • Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond

    Barili, V., Ambrosini, E., Uliana, V., Bellini, M., Vitetta, G., Martorana, D., Cannizzaro, I. R., Taiani, A., De Sensi, E., Caggiati, P., Hilton, S., Banka, S. & Percesepe, A., 10 Jun 2023, In: Genes. 14, 6, 1241.

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    Open Access

  • The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    Genomics England Research Consortium, Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B. B. A., van Jaarsveld, R. H., Hopman, S. M. J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J. M., Andersen, C. B. & Kibæk, M. & 31 others, Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Simões, M. J., Isidor, B., Deb, W., Schmanski, A. A., Abdul-Rahman, O., Philippe, C., Bruel, A.-L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L. & Douzgou, S., 1 Jun 2023, In: American Journal of Human Genetics. 110, 6, p. 963-978 16 p.

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  • Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

    Yaldiz, B., Kucuk, E., Hampstead, J., Hofste, T., Pfundt, R., Corominas Galbany, J., Rinne, T., Yntema, H. G., Hoischen, A., Nelen, M., Gilissen, C., Solve-RD consortium, Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G. & Sturm, M. & 32 others, Schulze-Hentrich, J. M., Schüle, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschütz, A., Schöls, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., Hoen, P. A. C. ’., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Kamsteeg, E. J., van de Warrenburg, B., van Os, N., te Paske, I., Janssen, E., Clayton-Smith, J., Banka, S., Jackson, A. & et al., Dec 2023, In: Human Genomics. 17, 1, 39.

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  • 2022

    A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations

    Genomics England Research Consortium, 20 May 2022, In: Science Advances. 8, 20, 19 p., eabn2265.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L. & Sanz, J. & 5 others, Stouffs, K., Xu, Z. L., Malliri, A., Kazanietz, M. G. & Millard, T. H., 9 Feb 2022, In: Brain. 145, 12, p. 4232-4245 14 p., awac049.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Lowther, C., Mehrjouy, M. M., Collins, R. L., Bak, M. C., Dudchenko, O., Brand, H., Dong, Z., Rasmussen, M. B., Gu, H., Weisz, D., Nazaryan-Petersen, L., Fjorder, A. S., Mang, Y., Lind-Thomsen, A., Mendez, J. M. M., Calle, X., Chopra, A., Hansen, C., Bugge, M. & Broekema, R. V. & 186 others, Varilo, T., Luukkonen, T., Engelen, J., Vianna-Morgante, A. M., Fonseca, A. C. S., Mazzeu, J. F., Dornelles-Wawruk, H., Abe, K. T., Vermeesch, J. R., Van Den Bogaert, K., Sismani, C., Aristidou, C., Evangelidou, P., Schinzel, A. A., Sanlaville, D., Schluth-Bolard, C., Kalscheuer, V. M., Wenzel, M., Kim, H.-G., Õunap, K., Roht, L., Midyan, S., Bonaglia, M. C., Lindstrand, A., Eisfeldt, J., Ottosson, J., Nilsson, D., Pettersson, M., Bastos, E. F., Rajcan-Separovic, E., Silan, F., Sheth, F. J., Novelli, A., Frengen, E., Fannemel, M., Strømme, P., Vokač, N. K., Daumer-Haas, C., Moretti-Ferreira, D., de Souza, D. H., Ramos-Arroyo, M. A., Igoa, M. M., Angelova, L., Kroisel, P. M., del Rey, G., Vieira, T. A. P., Lewis, S., Hao, W., Drabova, J., Havlovicova, M., Hancarova, M., Sedláček, Z., Vogel, I., Hjortshøj, T. D., Møller, R. S., Tümer, Z., Fagerberg, C., Ousager, L. B., Schönewolf-Greulich, B., Lauridsen, M., Piard, J., Pebrel-Richard, C., Jaillard, S., Ehmke, N., Stefanou, E. G., Marta, C., György, K., Dalal, A., Dutta, U. R., Shukla, R., Lonardo, F., Zuffardi, O., Houge, G., Misceo, D., Baig, S. M., Midro, A., Wawrusiewicz-Kurylonek, N., Carreira, I. M., Melo, J. B., Martinez, L. R., Guitart, M., Lovmar, L., Gullander, J., Hansson, K. B. M., de Almeida Esteves, C., Akkari, Y., Batanian, J. R., Li, X., Lespinasse, J., Silahtaroglu, A., Harding, C. H., Krogh, L. N., Taylor, J., Lehnert, K., Hill, R., Snell, R. G., Samson, C. A., Jacobsen, J. C., Levy, B., Clark, O. A., Toylu, A., Nur, B., Mihci, E., O’Keefe, K., Mohajeri-Stickels, K., Wilch, E. S., Kammin, T., Piña-Aguilar, R. E., Nalbandian, K., Temel, S. G., Sag, S. O., Turkgenc, B., Kamath, A., Ruiz-Herrera, A., Banka, S., Schilit, S. L. P., Currall, B. B., Yachelevich, N., Galloway, S., Chung, W. K., Raskin, S., Maya, I., Orenstein, N., Gilad, N. K., Flamenbaum, K. R., Hay, B. N., Morton, C. C., Liao, E., Choy, K. W., Gusella, J. F., Jacky, P., Aiden, E. L., Bache, I., Talkowski, M. E., Tommerup, N., da Cruz, A. D., Kulikowski, L. D., Novo Filho, G. M., Melaragno, M. I., Vazharova, R. V., Bradinova, I., Chitayat, D., Barisic, I., Mekkawy, M. M., Agnes, G., Pellestor, F., Dupont, C., Lebbar, A., Belaud-Rotureau, M.-A., Philippe, J., Pampanos, A. A., Kitsiou-Tzeli, S., Kardara, K., Kasturirangan, C. G., Kanakavalli, M., Kandukuri, L. R., Oruganti, V. P., Madon, P. F., Faradz, S. M. H., Giardino, D., Larizza, L., Recalcati, M. P., Dalpà, L., Sala, E., Kurahashi, H., Aleksiūnienė, B., Utkus, A., Ankathil, R., Tan, S. C., Kurpisz, M., Sousa, A. B., Travessa, A. M. R., Plaseska-Karanfilska, D., Abdulwahed, O. A., Zagorac, A., Bafalliu-Vidal, J. A., Lopez-Exposito, I., Soler-Sanchez, G., Vera-Carbonell, A., Kristoffersson, U., Filges, I., Charalsawadi, C., Aslanger, A. D., Cingöz, S., Dundar, M. & Wolff, D. J., 2022, In: medRxiv.

    Research output: Contribution to journal › Article › peer-review

  • Bi-allelic FRA10AC1 variants in a multisystem human syndrome

    Banka, S., Shalev, S., Park, S.-M., Wood, K. A., Thomas, H. B., Wright, H. L., Alyahya, M., Bankier, S., Alimi, O., Chervinsky, E., Zeef, L. A. H. & O'Keefe, R. T., 24 Jul 2022, In: Brain : a journal of neurology.

    Research output: Contribution to journal › Article › peer-review

  • Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

    Thomas, Q., Motta, M., Gautier, T., Zaki, M. S., Ciolfi, A., Paccaud, J., Girodon, F., Boespflug-Tanguy, O., Besnard, T., Kerkhof, J., McConkey, H., Masson, A., Denommé-Pichon, A.-S., Cogné, B., Trochu, E., Vignard, V., El It, F., Rodan, L. H., Alkhateeb, M. A. & Jamra, R. A. & 42 others, Duplomb, L., Tisserant, E., Duffourd, Y., Bruel, A.-L., Jackson, A., Banka, S., McEntagart, M., Saggar, A., Gleeson, J. G., Sievert, D., Bae, H., Lee, B. H., Kwon, K., Seo, G. H., Lee, H., Saeed, A., Anjum, N., Cheema, H., Alawbathani, S., Pinto-Basto, J., Teoh, J., Wong, J., Sahari, U. B. M., Houlden, H., Zhelcheska, K., Pannetier, M., Awad, M. A., Lesieur-Sebellin, M., Barcia, G., Amiel, J., Delanne, J., Philippe, C., Faivre, L., Odent, S., Bertoli-Avella, A., Thauvin, C., Sadikovic, B., Reversade, B., Maroofian, R., Govin, J., Tartaglia, M. & Vitobello, A., 6 Oct 2022, In: American Journal of Human Genetics. 109, 10, p. 1909-1922 14 p.

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    Open Access

  • Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects

    Genomics England Res Consortium, 1 Jan 2022, In: Clinical Genetics. 101, 1, p. 127-133 7 p.

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  • Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders

    Lee, S., Ochoa, E., Barwick, K., Cif, L., Rodger, F., Docquier, F., Pérez-Dueñas, B., Clark, G., Martin, E., Banka, S., Kurian, M. A. & Maher, E. R., 4 May 2022, In: Epigenomics. 14, 9, p. 537-547 11 p.

    Research output: Contribution to journal › Article › peer-review

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  • Critical role of PCYT2 in muscle health and aging

    Cikes, D., Elsayad, K., Sezgin, E., Koitai, E., Ferenc, T., Orthofer, M., Yarwood, R., Heinz, L. X., Sedlyarov, V., Miranda, N. D., Taylor, A., Grapentine, S., al-Murshedi, F., Abott, A., Weidinger, A., Kutchukian, C., Sanchez, C., Cronin, S. J. F., Novatchkova, M. & Kavirayani, A. & 18 others, Schuetz, T., Haubner, B., Haas, L., Hagelkruys, A., Jackowski, S., Kozlov, A., Jacquemond, V., Knauf, C., Superti-Furga, G., Rullman, E., Gustafsson, T., McDermot, J., Lowe, M., Radak, Z., Chamberlain, J. S., Bakovic, M., Banka, S. & Penninger, J. M., 2022, In: bioRxiv. p. 2022.03.02.482658

    Research output: Contribution to journal › Article › peer-review

  • De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

    Yale Center for Genome Analysis, 2022, In: Human Genetics.

    Research output: Contribution to journal › Article › peer-review

  • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

    Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F. & Foroutan, A. & 71 others, Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 21 Aug 2022, In: Human Mutation.

    Research output: Contribution to journal › Article › peer-review

  • Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

    Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A. & Cuvertino, S. & 12 others, Ellingford, J. M., Smith, M. J., Evans, D. G., Weppner-Parren, L. J. M. T., van Steensel, M. A. M., Chaudhary, I. H., Mangham, D. C., Lear, J. T., Paus, R., Frank, J., Newman, W. G. & Zhang, X., 20 Aug 2022, (E-pub ahead of print) In: British Journal of Dermatology.

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  • Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

    Goudie, D., Verde, A. D., Gardham, A., Ramond, F., Putoux, A., Sarkar, A., Clowes, V., Clayton-Smith, J., Banka, S., Cortazar Galarza, L., Thuret, G., Ubeda Erviti, M., Zurutuza Ibarguren, A., Sáez Villaverde, R., Tamayo Durán, A., Ayuso, C., Bax, D. A., Plaisancie, J., Corton, M. & Chassaing, N. & 2 others, Calvas, P. & Ragge, N. K., 1 Dec 2022, In: Ophthalmic Genetics. 43, 6, p. 809-816 8 p.

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    Open Access

  • Monogenic disorders as mimics of juvenile idiopathic arthritis

    Furness, L., Riley, P., Wright, N., Banka, S., Eyre, S., Jackson, A. & Briggs, T. A., 18 Jun 2022, In: Pediatric Rheumatology Online Journal. 20, 1, p. 44

    Research output: Contribution to journal › Article › peer-review

  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C. & Haghshenas, S. & 66 others, Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075

    Research output: Contribution to journal › Article › peer-review

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