Department of Genetics

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  • 2025

    De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

    Anderson, E. N., Drukewitz, S., Kour, S., Chimata, A. V., Rajan, D. S., Schönnagel, S., Stals, K. L., Donnelly, D., O'Sullivan, S., Mantovani, J. F., Tan, T. Y., Stark, Z., Zacher, P., Chatron, N., Monin, P., Drunat, S., Vial, Y., Latypova, X., Levy, J. & Verloes, A. & 31 others, Carter, J. N., Bonner, D. E., Shankar, S. P., Bernstein, J. A., Cohen, J. S., Comi, A., Alexis Carere, D., Dyer, L. M., Mullegama, S. V., Sanchez-Lara, P. A., Grand, K., Kim, H.-G., Ben-Mahmoud, A., Gospe, S. M., Belles, R. S., Bellus, G., Lichtenbelt, K. D., Oegema, R., Rauch, A., Ivanovski, I., Tran Mau-Them, F., Garde, A., Rabin, R., Pappas, J., Bley, A. E., Bredow, J., Wagner, T., Decker, E., Bergmann, C., Domenach, L. & Undiagnosed Diseases Network, 1 Apr 2025, medRxiv, 51 p.

    Research output: Working paper › Preprint › Academic

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  • 2024

    Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar

    Eichstaedt, C. A., Maldonado-Velez, G., Machado, R. D., Balachandar, S., Coulet, F., Day, K., Dooijes, D., Eyries, M., Gräf, S., Macaya, D., Shaukat, M., Southgate, L., Tenorio-Castano, J., Chung, W. K., Welch, C. L. & Aldred, M. A., 26 Nov 2024, medRxiv, 29 p.

    Research output: Working paper › Preprint › Academic

  • Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

    Nicastro, M., Vermeer, A. M. C., Postema, P. G., Tadros, R., Bowling, F. Z., Aegisdottir, H. M., Tragante, V., Mach, L., Postma, A. V., Lodder, E. M., van Duijvenboden, K., Zwart, R., Beekman, L., Wu, L., van der Zwaag, P. A., Alders, M., Allouba, M., Aguib, Y., Santomel, J. L. & de Una, D. & 50 others, Monserrat, L., Miranda, A. M. A., Kanemaru, K., Cranley, J., van Zeggeren, I. E., Aronica, E. M. A., Ripolone, M., Zanotti, S., Sveinbjornsson, G., Ivarsdottir, E. V., Hólm, H., Guðbjartsson, D. F., Skúladóttir, Á. T., Stefánsson, K., Nadauld, L., Knowlton, K. U., Ostrowski, S. R., Sørensen, E., Vesterager Pedersen, O. B., Ghouse, J., Rand, S., Bundgaard, H., Ullum, H., Erikstrup, C., Aagaard, B., Bruun, M. T., Christiansen, M., Jensen, H. K., Carere, D. A., Cummings, C. T., Fishler, K., Tøring, P. M., Brusgaard, K., Juul, T. M., Saaby, L., Winkel, B. G., Mogensen, J., Fortunato, F., Comi, G. P., Ronchi, D., van Tintelen, J. P., Noseda, M., Airola, M. V., Christiaans, I., Wilde, A. A. M., Wilders, R., Clur, S.-A., Verkerk, A. O., Bezzina, C. R. & Lahrouchi, N., 5 Jul 2024, medRxiv, 49 p. (medRxiv).

    Research output: Working paper › Preprint › Academic

  • GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    Lesmann, H., Hustinx, A., Moosa, S., Klinkhammer, H., Marchi, E., Caro, P., Abdelrazek, I. M., Pantel, J. T., Hagen, M. T., Thong, M.-K., Binti Mazlan, R. A., Tae, S. K., Kamphans, T., Meiswinkel, W., Li, J.-M., Javanmardi, B., Knaus, A., Uwineza, A., Knopp, C. & Tkemaladze, T. & 31 others, Elbracht, M., Mattern, L., Jamra, R. A., Velmans, C., Strehlow, V., Jacob, M., Peron, A., Dias, C., Nunes, B. C., Vilella, T., Pinheiro, I. F., Kim, C. A., Melaragno, M. I., Weiland, H., Kaptain, S., Chwiałkowska, K., Kwasniewski, M., Saad, R., Wiethoff, S., Goel, H., Tang, C., Hau, A., Barakat, T. S., Panek, P., Nabil, A., Suh, J., Braun, F., Gomy, I., Averdunk, L., Oegema, R. & Hellen Lesmann, 10 Jun 2024, Research Square, 51 p. (Research square).

    Research output: Working paper › Preprint › Academic

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  • Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension

    Gomez-Arroyo, J., Houweling, A. C., Bogaard, H. J., Aman, J., Kitzmiller, J. A., Porollo, A., Dooijes, D., Meijboom, L. J., Hale, P., Pauciulo, M. W., Hong, J., Zhu, N., Welch, C., Shen, Y., Zacharias, W. J., McCormack, F. X., Aldred, M. A., Weirauch, M. T., Graf, S. & Rhodes, C. & 5 others, Chung, W. K., Whitsett, J. A., Martin, L. J., Kalinichenko, V. V. & Nichols, W. C., 22 Sept 2024, BioRxiv.

    Research output: Working paper › Preprint › Academic

    Open Access

  • Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

    Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F., Möller, S., Florenceau, L., Cuinat, S. & Marsac, S. & 111 others, Wentzensen, I., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., Bonneau, D., Torti, E., Begtrup, A., Monaghan, K. G., Mullegama, S. V., Volker-Touw, C. M. L. N., van Gassen, K. L. I., Oegema, R., de Pagter, M., Steindl, K., Rauch, A., Ivanovski, I., McDonald, K., Boothe, E., Dauber, A., Baker, J., Fabie, N. A. V., Bernier, R. A., Turner, T. N., Srivastava, S., Dies, K. A., Swanson, L., Costin, C., Jobling, R. K., Pappas, J., Rabin, R., Niyazov, D., Tsai, A.C.-H., Kovak, K., Beck, D. B., Malicdan, M., Adams, D. R., Wolfe, L., Ganetzky, R. D., Muraresku, C., Babikyan, D., Sedláček, Z., Hančárová, M., Timberlake, A. T., Al Saif, H., Nestler, B., King, K., Hajianpour, M. J., Costain, G., Prendergast, D., Li, C., Geneviève, D., Vitobello, A., Sorlin, A., Philippe, C., Harel, T., Toker, O., Sabir, A., Lim, D., Hamilton, M., Bryson, L., Cleary, E., Weber, S., Hoffman, T. L., Cueto-González, A. M., Tizzano, E. F., Gómez-Andrés, D., Codina-Solà, M., Ververi, A., Pavlidou, E., Lambropoulos, A., Garganis, K., Rio, M., Levy, J., Jurgensmeyer, S., McRae, A. M., Lessard, M. K., D'Agostino, M. D., De Bie, I., Wegler, M., Jamra, R. A., Kamphausen, S. B., Bothe, V., Busch, L. M., Völker, U., Hammer, E., Wende, K., Cogné, B., Isidor, B., Meiler, J., Bosc-Rosati, A., Marcoux, J., Bousquet, M.-P., Poschmann, J., Laumonnier, F., Hildebrand, P. W., Eichler, E. E., McWalter, K., Krawitz, P. M., Droit, A., Elgersma, Y., Grabrucker, A. M., Bolduc, F. V., Bézieau, S., Ebstein, F. & Krüger, E., 26 Jan 2024, medRxiv.

    Research output: Working paper › Preprint › Academic

  • 2023

    Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

    Josephs, K. S., Roberts, A. M., Theotokis, P., Walsh, R., Ostrowski, P. J., Edwards, M., Fleming, A., Thaxton, C., Roberts, J. D., Care, M., Zareba, W., Adler, A., Sturm, A. C., Tadros, R., Novelli, V., Owens, E., Bronicki, L., Jarinova, O., Callewaert, B. & Peters, S. & 15 others, Lumbers, T., Jordan, E., Asatryan, B., Krishnan, N., Hershberger, R. E., Chahal, C. A. A., Landstrom, A. P., James, C., McNally, E. M., Judge, D. P., van Tintelen, P., Wilde, A., Gollob, M., Ingles, J. & Ware, J. S., 3 Apr 2023, medRxiv.

    Research output: Working paper › Preprint › Academic

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    3 Downloads (Pure)

  • Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

    Picketts, D., Mirzaa, G., Yan, K., Relator, R., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K., Sacoto, M. G., Dobyns, W., Park, K., Fernández-Mayoralas, D., Fernández-Jaén, A., Jayakar, P. & Brusco, A. & 42 others, Antona, V., Giorgio, E., Kvarnung, M., Isidor, B., Conrad, S., Cogné, B., Deb, W., Stuurman, K. E., Sterbova, K., Smal, N., Weckhuysen, S., Oegema, R., Innes, M., Latsko, M., Ben-Omran, T., Yeh, R., Kruer, M., Bakhtiari, S., Papavasiliou, A., Moutton, S., Nambot, S., Chanprasert, S., Paolucci, S., Miller, K., Burton, B., Kim, K., O'Heir, E., Bruwer, Z., Donald, K., Kleefstra, T., Goldstein, A., Angle, B., Bontempo, K., Miny, P., Joset, P., Demurger, F., Hobson, E., Pang, L., Carpenter, L., Li, D., Bonneau, D. & Sadikovic, B., 29 Sept 2023, Research Square, 32 p. (Research square).

    Research output: Working paper › Preprint › Academic

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    5 Downloads (Pure)

  • Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

    Cipriani, V., Vestito, L., Magavern, E. F., Jacobsen, J. O., Arno, G., Behr, E. R., Benson, K. A., Bertoli, M., Bockenhauer, D., Bowl, M. R., Burley, K., Chan, L. F., Chinnery, P., Conlon, P., Costa, M., Davidson, A. E., Dawson, S. J., Elhassan, E., Flanagan, S. E. & Futema, M. & 41 others, Gale, D. P., García-Ruiz, S., Corcia, C. G., Griffin, H. R., Hambleton, S., Hicks, A. R., Houlden, H., Houlston, R. S., Howles, S. A., Kleta, R., Lekkerkerker, I., Lin, S., Liskova, P., Mitchison, H., Morsy, H., Mumford, A. D., Newman, W. G., Neatu, R., O'Toole, E. A., Ong, A. C., Pagnamenta, A. T., Rahman, S., Rajan, N., Robinson, P. N., Ryten, M., Sadeghi-Alavijeh, O., Sayer, J. A., Shovlin, C. L., Taylor, J. C., Teltsh, O., Tomlinson, I., Tucci, A., Turnbull, C., van Eerde, A. M., Ware, J. S., Watts, L. M., Webster, A. R., Westbury, S. K., Zheng, S. L., Caulfield, M. & Smedley, D., 21 Dec 2023, medRxiv, 42 p. (medRxiv).

    Research output: Working paper › Preprint › Academic