Petra Zwijnenburg

19992020

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  • An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Ferdinandusse, S., McWalter, K., te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E. & 312 others, Perlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L. A., Alejandro, M. E., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H. T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Lalani, S. R., Lee, B. H., Lewis, R. A., Marom, R., Moretti, P., Murdock, D. R., Nicholas, S. K., Orengo, J. P., Posey, J. E., Potocki, L., Rosenfeld, J. A., Samson, S. L., Scott, D. A., Tran, A. A., Vogel, T. P., Wangler, M. F., Yamamoto, S., Eng, C. M., Liu, P., Ward, P. A., Behrens, E., Deardorff, M., Falk, M., Hassey, K., Sullivan, K., Vanderver, A., Goldstein, D. B., Cope, H., McConkie-Rosell, A., Schoch, K., Shashi, V., Smith, E. C., Spillmann, R. C., Sullivan, J. A., Tan, Q. K. G., Walley, N. M., Agrawal, P. B., Beggs, A. H., Berry, G. T., Briere, L. C., Cobban, L. A., Coggins, M., Cooper, C. M., Fieg, E. L., High, F., Holm, I. A., Korrick, S., Krier, J. B., Lincoln, S. A., Loscalzo, J., Maas, R. L., MacRae, C. A., Pallais, J. C., Rao, D. A., Rodan, L. H., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Walker, M., Walsh, C. A., Esteves, C., Kelley, E. G., Kohane, I. S., LeBlanc, K., McCray, A. T., Nagy, A., Dasari, S., Lanpher, B. C., Lanza, I. R., Morava, E., Oglesbee, D., Bademci, G., Barbouth, D., Bivona, S., Carrasquillo, O., Chang, T. C. P., Forghani, I., Grajewski, A., Isasi, R., Lam, B., Levitt, R., Liu, X. Z., McCauley, J., Sacco, R., Saporta, M., Schaechter, J., Tekin, M., Telischi, F., Thorson, W., Zuchner, S., Colley, H. A., Dayal, J. G., Eckstein, D. J., Findley, L. C., Krasnewich, D. M., Mamounas, L. A., Manolio, T. A., Mulvihill, J. J., LaMoure, G. L., Goldrich, M. P., Urv, T. K., Doss, A. L., Acosta, M. T., Bonnenmann, C., D’Souza, P., Draper, D. D., Ferreira, C., Godfrey, R. A., Groden, C. A., Macnamara, E. F., Maduro, V. V., Markello, T. C., Nath, A., Novacic, D., Pusey, B. N., Toro, C., Wahl, C. E., Baker, E., Burke, E. A., Adams, D. R., Gahl, W. A., Malicdan, M. C. V., Tifft, C. J., Wolfe, L. A., Yang, J., Power, B., Gochuico, B., Huryn, L., Latham, L., Davis, J., Mosbrook-Davis, D., Rossignol, F., Solomon, B., MacDowall, J., Thurm, A., Zein, W., Yousef, M., Adam, M., Amendola, L., Bamshad, M., Beck, A., Bennett, J., Berg-Rood, B., Blue, E., Boyd, B., Byers, P., Chanprasert, S., Cunningham, M., Dipple, K., Doherty, D., Earl, D., Glass, I., Golden-Grant, K., Hahn, S., Hing, A., Hisama, F. M., Horike-Pyne, M., Jarvik, G. P., Jarvik, J., Jayadev, S., Lam, C., Maravilla, K., Mefford, H., Merritt, J. L., Mirzaa, G., Nickerson, D., Raskind, W., Rosenwasser, N., Scott, C. R., Sun, A., Sybert, V., Wallace, S., Wener, M., Wenger, T., Ashley, E. A., Bejerano, G., Bernstein, J. A., Bonner, D., Coakley, T. R., Fernandez, L., Fisher, P. G., Fresard, L., Hom, J., Huang, Y., Kohler, J. N., Kravets, E., Majcherska, M. M., Martin, B. A., Marwaha, S., McCormack, C. E., Raja, A. N., Reuter, C. M., Ruzhnikov, M., Sampson, J. B., Smith, K. S., Sutton, S., Tabor, H. K., Tucker, B. M., Wheeler, M. T., Zastrow, D. B., Zhao, C., Byrd, W. E., Crouse, A. B., Might, M., Nakano-Okuno, M., Whitlock, J., Brown, G., Butte, M. J., Dell’Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Mak, B. C., Martin, M. G., Martínez-Agosto, J. A., McGee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Signer, R. H., Sinsheimer, J. S., Wan, J., Wang, L. K., Perry, K. W., Woods, J. D., Alvey, J., Andrews, A., Bale, J., Bohnsack, J., Botto, L., Carey, J., Pace, L., Longo, N., Marth, G., Moretti, P., Quinlan, A., Velinder, M., Viskochil, D., Bayrak-Toydemir, P., Mao, R., Westerfield, M., Bican, A., Brokamp, E., Duncan, L., Hamid, R., Kennedy, J., Kozuira, M., Newman, J. H., Phillips, J. A., Rives, L., Robertson, A. K., Solem, E., Cogan, J. D., Cole, F. S., Hayes, N., Kiley, D., Sisco, K., Wambach, J., Wegner, D., Baldridge, D., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L., Waisfisz, Q., Zwijnenburg, P. J. G., Ziegler, A., Barth, M., Smith, R., Ellingwood, S., Gaebler-Spira, D., Bakhtiari, S., Kruer, M. C., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., Cassiman, D., Vaz, F. M. & Undiagnosed Diseases Network, 2020, (Accepted/In press) In: Genetics in Medicine.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

    Schneeberger, P. E., von Elsner, L., Barker, E. L., Meinecke, P., Marquardt, I., Alawi, M., Steindl, K., Joset, P., Rauch, A., Zwijnenburg, P. J. G., Weiss, M. M., Merry, C. L. R. & Kutsche, K., 3 Dec 2020, In: American journal of human genetics. 107, 6, p. 1044-1061 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics

    Groot, A. L. W., Kuijten, M. M. P., Remmers, J., Gilani, A., Mourits, D. L., Kraal-Biezen, E., de Graaf, P., Zwijnenburg, P. J., Moll, A. C., Tan, S., Saeed, P. & Hartong, D. T., 1 Aug 2020, In: Acta Ophthalmologica. 98, 5, p. 514-520 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., van Allen, M., Grønborg, S., Mercier, S., Küry, S. B. & 42 others, Bézieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Billette de Villemeur, T., Keren, B., Désir, J., van Maldergem, L., Marangoni, M., Dikow, N., Koolen, D. A., VanHasselt, P. M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C. F., López-Otín, C., Santiago-Fernández, O., Fernández-Jaén, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Undiagnosed Diseases Network, Davids, M., Sullivan, J. A., Au, M., Pérez-Jurado, L. A., Kleefstra, T., Penzes, P., Wood, S. A., Burne, T., Pierson, T., Piper, M., Gecz, J. & Jolly, L. A., 15 Jan 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Ragge, N., Isidor, B., Bitoun, P., Odent, S., Giurgea, I., Cogné, B., Deb, W., Vincent, M., Le Gall, J., Morton, J., Lim, D., Le Meur, G., Zazo Seco, C., Zafeiropoulou, D., Bax, D., Zwijnenburg, P., Arteche, A., Swafiri, S. T., Cleaver, R., McEntagart, M. & 9 others, Kini, U., Newman, W., Ayuso, C., Corton, M., Herenger, Y., Jeanne, M., Calvas, P., Chassaing, N. & DDD Study, 11 Sep 2019, In: Human Genetics. 138, 8-9, p. 1051-1069

    Research output: Contribution to journalArticleAcademicpeer-review

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