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Zweier, Christiane Gertrud

{"headers":{"title":"Title","year":"Year","type":"Type"},"rows":[{"title":"Altay, M. F., Gregor, A., Braun, D., Rieubland, C., Perret Hoign\u00e9, E., Gautschi, M., Schiller, R., Keren, B., Afenjar, A., Martinez-Agosto, J. A., Rosenfeld, J. A., \u0026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/222109\u0022\u003EHeterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Braun, D., Amylidi-Mohr, S., Ahrens, O., Trippel, M., Schiller, R., \u0026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/217203\u0022\u003EA fetal case of St\u00fcve-Wiedemann syndrome due to a novel homozygous truncating variant in IL6ST\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Medical Genetics\u003C\/i\u003E, \u003Ci\u003E77\u003C\/i\u003E, 105040.","year":2025,"type":"Journal Article (Further Contribution)"},{"title":"Elbracht, M., Zweier, C., \u0026 Krey-Grauert, I. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/213493\u0022\u003EEditorial - Patient perspectives on new therapies for genetic diseases\u003C\/a\u003E. \u003Ci\u003EMedizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V\u003C\/i\u003E, \u003Ci\u003E37\u003C\/i\u003E(3), 163-167.","year":2025,"type":"Journal Article (Further Contribution)"},{"title":"Schmid, C. M., Gregor, A., Ruiz, A., Manso Baz\u00fas, C., Herman, I., Ammouri, F., Kotzaeridou, U., McNiven, V., Dupuis, L., Steindl, K., Begemann, A., Rauch, A., Suter, A.-A., Isidor, B., Mercier, S., Nizon, M., Cogn\u00e9, B., Deb, W., Besnard, T., \u2026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/194495\u0022\u003EFurther delineation of the SCAF4-associated neurodevelopmental disorder\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E33\u003C\/i\u003E(5), 588-594.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Braun, D., Gregor, A., Haubitz, M., Baerlocher, G. M., Kraus, C., Rieubland, C., \u0026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/210247\u0022\u003EDe Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Medical Genetics. Part A\u003C\/i\u003E, e64097.","year":2025,"type":"Journal Article (Further Contribution)"},{"title":"Gregor, A., Distel, L., Ekici, A. B., Kirchner, P., Uebe, S., Krumbiegel, M., Turan, S., Winner, B., \u0026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/207671\u0022\u003EProteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency\u003C\/a\u003E. \u003Ci\u003EHGG Advances\u003C\/i\u003E, \u003Ci\u003E6\u003C\/i\u003E(2), 100425.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Langhammer, F., Gregor, A., Ntamati, N. R., Ekici, A. B., Winner, B., Nevian, T., \u0026 Zweier, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/203452\u0022\u003EDeregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy\u003C\/a\u003E. \u003Ci\u003EHuman Molecular Genetics\u003C\/i\u003E, \u003Ci\u003E34\u003C\/i\u003E(7), 639-650.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Peron, A., D\u2019Arco, F., Aldinger, K. A., Smith-Hicks, C., Zweier, C., Gradek, G. A., Bradbury, K., Accogli, A., Andersen, E. F., Au, P. Y. B., Battini, R., Beleford, D., Bird, L. M., Bouman, A., Bruel, A.-L., Busk, \u00d8. L., Campeau, P. M., Capra, V., Carlston, C., \u2026 Dias, C. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/189470\u0022\u003EBCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E33\u003C\/i\u003E(3), 312-324.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Andreoti, T.-A. A., Maiolo, M., Tuleja, A., D\u00f6ring, Y., Schaller, A., Vassella, E., Boon, L. M., Baumgartner, I., Bernhard, S. M., Zweier, C., Vikkula, M., \u0026 R\u00f6ssler, J. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/194989\u0022\u003ENon-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations\u003C\/a\u003E. \u003Ci\u003EThe American Journal of Medical Genetics - Part A\u003C\/i\u003E, \u003Ci\u003E197\u003C\/i\u003E(2), e63883.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Andreoti, T.-A. A., Maiolo, M., Tuleja, A., D\u00f6ring, Y., Schaller, A., Vassella, E., Boon, L. M., Baumgartner, I., Bernhard, S. M., Zweier, C., Vikkula, M., \u0026 R\u00f6ssler, J. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/189050\u0022\u003ENon-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations\u003C\/a\u003E. \u003Ci\u003EThe American Journal of Medical Genetics - Part A\u003C\/i\u003E, \u003Ci\u003E197\u003C\/i\u003E(2).","year":2025,"type":"Journal Article (Original Article)"},{"title":"Sabeh, P., Dumas, S. A., Maios, C., Daghar, H., Korzeniowski, M., Rousseau, J., Lines, M., Guerin, A., Millichap, J. J., Landsverk, M., Grebe, T., Lindstrom, K., Strober, J., Ait Mouhoub, T., Zweier, C., Steinraths, M., Hebebrand, M., Callewaert, B., Abou Jamra, R., \u2026 Campeau, P. M. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/195033\u0022\u003EHeterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E112\u003C\/i\u003E(1), 75-86.","year":2025,"type":"Journal Article (Original Article)"},{"title":"De Hayr, L., Blok, L. E. R., Dias, K.-R., Long, J., Begemann, A., Moir, R. D., Willis, I. M., Mocera, M., Siegel, G., Steindl, K., Evans, C.-A., Zhu, Y., Zhang, F., Field, M., Ma, A., Ad\u00e8s, L., Josephi-Taylor, S., Pfundt, R., Zaki, M. S., \u2026 Harvey, R. J. (2025). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/194314\u0022\u003EBiallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability\u003C\/a\u003E. \u003Ci\u003EGenetics in Medicine\u003C\/i\u003E, \u003Ci\u003E27\u003C\/i\u003E(1), 101253.","year":2025,"type":"Journal Article (Original Article)"},{"title":"Gong, M., Li, J., Qin, Z., Machado Bressan Wilke, M. V., Liu, Y., Li, Q., Liu, H., Liang, C., Morales-Rosado, J. A., Cohen, A. S. A., Hughes, S. S., Sullivan, B. R., Waddell, V., van den Boogaard, M.-J. H., van Jaarsveld, R. H., van Binsbergen, E., van Gassen, K. L., Wang, T., Hiatt, S. M., \u2026 Chen, X. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/189357\u0022\u003EMARK2 variants cause autism spectrum disorder via the downregulation of WNT\/\u03b2-catenin signaling pathway\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E111\u003C\/i\u003E(11), 2392-2410.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Kartal-Kaess, M., Karow, A., Bacher, V. U., Pabst, T. N., Joncourt, R., Zweier, C. G., K\u00fchni, C., Porret, N., \u0026 R\u00f6ssler, J. K. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/178020\u0022\u003EClonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation\u003C\/a\u003E. \u003Ci\u003EPediatric Hematology and Oncology\u003C\/i\u003E, \u003Ci\u003E41\u003C\/i\u003E(7), 530-539.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., Piard, J., Coubes, C., Lam, W., Lynch, S. A., Groeschel, S., Ramond, F., Fluss, J., Fagerberg, C., Brasch Andersen, C., Varvagiannis, K., Kleefstra, T., \u2026 Ruaud, L. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/211397\u0022\u003EExpansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E32\u003C\/i\u003E(9), 1144-1149.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., Piard, J., Coubes, C., Lam, W., Lynch, S. A., Groeschel, S., Ramond, F., Fluss, J., Fagerberg, C., Brasch Andersen, C., Varvagiannis, K., Kleefstra, T., \u2026 Ruaud, L. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/176449\u0022\u003ECorrection: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E32\u003C\/i\u003E(9), 1191.","year":2024,"type":"Journal Article (Further Contribution)"},{"title":"Layo-Carris, D. E., Lubin, E. E., Sangree, A. K., Clark, K. J., Durham, E. L., Gonzalez, E. M., Smith, S., Angireddy, R., Wang, X. M., Weiss, E., Toutain, A., Mendoza-Londono, R., Dupuis, L., Damseh, N., Velasco, D., Valenzuela, I., Codina-Sol\u00e0, M., Ziats, C., Have, J., \u2026 Bryant, L. M. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/179444\u0022\u003ECorrection: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E32\u003C\/i\u003E(8), 1032.","year":2024,"type":"Journal Article (Further Contribution)"},{"title":"Layo-Carris, D. E., Lubin, E. E., Sangree, A. K., Clark, K. J., Durham, E. L., Gonzalez, E. M., Smith, S., Angireddy, R., Wang, X. M., Weiss, E., Mendoza-Londono, R., Dupuis, L., Damseh, N., Velasco, D., Valenzuela, I., Codina-Sol\u00e0, M., Ziats, C., Have, J., Clarkson, K., \u2026 Bryant, L. M. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/177046\u0022\u003EExpanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E32\u003C\/i\u003E(8), 928-937.","year":2024,"type":"Journal Article (Original Article)"},{"title":"van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, \u00d6., Zweier, C. G., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., \u2026 Menke, L. A. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/176514\u0022\u003EDNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants\u003C\/a\u003E. \u003Ci\u003EHGG Advances\u003C\/i\u003E, \u003Ci\u003E5\u003C\/i\u003E(3), 100289.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Karayol, R., Borroto, M. C., Haghshenas, S., Namasivayam, A., Reilly, J., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Shvedunova, M., Petersen, A. K., Magnussen, K., Zweier, C. G., Vasileiou, G., Reis, A., Savatt, J. M., Mulligan, M. R., Bicknell, L. S., Poke, G., \u2026 Campeau, P. M. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/177810\u0022\u003EMSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E111\u003C\/i\u003E(7), 1330-1351.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Ha, T., Morgan, A., Bartos, M. N., Beatty, K., Cogn\u00e9, B., Braun, D., Gerber, C. B., Gaspar, H., Kopps, A., Rieubland, C., Hurst, A. C. E., Amor, D. J., Nizon, M., Pasquier, L., Pfundt, R., Reis, A., Siu, V. M., Tessarech, M., Thompson, M. L., \u2026 Slavotinek, A. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/175047\u0022\u003EDe novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Medical Genetics. Part A\u003C\/i\u003E, \u003Ci\u003E194\u003C\/i\u003E(7), e63559.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Kraemer, D., Terumalai, D., Famiglietti, M. L., Filges, I., Joset, P., Koller, S., Maurer, F., Meier, S., Nouspikel, T., Sanz, J., Zweier, C. G., Abramowicz, M., Berger, W., Cichon, S., Schaller, A., Superti-Furga, A., Barbi\u00e9, V., \u0026 Rauch, A. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/178482\u0022\u003ESwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland\u003C\/a\u003E. \u003Ci\u003EJournal of Personalized Medicine\u003C\/i\u003E, \u003Ci\u003E14\u003C\/i\u003E(6).","year":2024,"type":"Journal Article (Original Article)"},{"title":"Gregor, A., \u0026 Zweier, C. G. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/178084\u0022\u003EModelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems\u003C\/a\u003E. \u003Ci\u003EMedizinische Genetik\u003C\/i\u003E, \u003Ci\u003E36\u003C\/i\u003E(2), 121-131.","year":2024,"type":"Journal Article (Original Article)"},{"title":"de Masfrand, S., Cogn\u00e9, B., Nizon, M., Deb, W., Goldenberg, A., Lecoquierre, F., Nicolas, G., Bournez, M., Vitobello, A., Mau-Them, F. T., le Guyader, G., Bilan, F., Bauer, P., Zweier, C. G., Piard, J., Pasquier, L., B\u00e9zieau, S., Gerard, B., Faivre, L., \u2026 Isidor, B. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/175347\u0022\u003EPenetrance, variable expressivity and monogenic neurodevelopmental disorders\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Medical Genetics\u003C\/i\u003E, \u003Ci\u003E69\u003C\/i\u003E, 104932.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Bernhard, S. M., Tuleja, A. B., D\u00f6ring, Y., Vassella, E., Amstutz, U., Zweier, C. G., R\u00f6ssler, J. K., Boon, L. M., Vikkula, M., Haupt, F., Hamvas, G. V., Kammer, R. F., \u0026 Baumgartner, I. (2024, May 9). \u003Ci\u003E\u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/177907\u0022\u003EOncogene targeted next-generation-sequencing in extracranial arteriovenous malformations\u003C\/a\u003E\u003C\/i\u003E. Word ISSVA Congress 2024, Madrid, Spain. BORIS Portal.","year":2024,"type":"Conference Paper (Speech)"},{"title":"Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J.-H., Ge, Y.-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., \u2026 Kristensen, A. S. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/171976\u0022\u003EGain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes\u003C\/a\u003E. \u003Ci\u003EBrain : A Journal of Neurology\u003C\/i\u003E, \u003Ci\u003E147\u003C\/i\u003E(5), 1837-1855.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Oestreich, M.-A. H., Keller, F., Bovermann, X. U., Braun, D., Schiller, R., Raio, L., Zweier, C. G., Casaulta, C., Usemann, J., Kidszun, A., \u0026 Popa-Todirenchi, M.-H. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/173412\u0022\u003EA Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation\u003C\/a\u003E. \u003Ci\u003EKlinische P\u00e4diatrie\u003C\/i\u003E, \u003Ci\u003E236\u003C\/i\u003E(2), 145-147.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Mammadova, D., Kraus, C., Leis, T., Popp, B., Zweier, C., Reis, A., \u0026 Trollmann, R. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/189298\u0022\u003EIntrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A\u003C\/a\u003E. \u003Ci\u003EFrontiers in Neurology\u003C\/i\u003E, \u003Ci\u003E15\u003C\/i\u003E, 1458109.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Enzmann, C., Steiner, L., Pospieszny, K., Zweier, C. G., Plattner, K., Baumann, D., Henzi, B., Galiart, E., Fink, M., Jacquier, D., Stettner, G. M., Ripellino, P., Fluss, J., \u0026 Klein, A. (2024). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/44710\u0022\u003EA Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy\u003C\/a\u003E. \u003Ci\u003EJournal of Neuromuscular Diseases\u003C\/i\u003E, \u003Ci\u003E11\u003C\/i\u003E(5), 1021-1033.","year":2024,"type":"Journal Article (Original Article)"},{"title":"Themis-Areti A, A., Tuleja, A. B., D\u00f6ring, Y., Maiolo, M. V., Schaller, A., Vassella, E., Zweier, C. G., Boon, L. M., Vikkula, M., R\u00f6ssler, J. K., Bernhard, S. M., \u0026 Baumgartner, I. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/171655\u0022\u003EParkes Weber Syndrome: Contribution of the Genotype to the Diagnosis\u003C\/a\u003E. \u003Ci\u003EJournal of Vascular Anomalies\u003C\/i\u003E, \u003Ci\u003E4\u003C\/i\u003E(4), e076.","year":2023,"type":"Journal Article (Original Article)"},{"title":"Rieder, M., Zweier, C. G., \u0026 Odening, K. E. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/167895\u0022\u003ENovel Insights Into the Prevalence of TNNI3K-Mediated Dilated Cardiomyopathy and Putative Disease Mechanisms\u003C\/a\u003E. \u003Ci\u003ECirculation. Genomic and Precision Medicine\u003C\/i\u003E, \u003Ci\u003E16\u003C\/i\u003E(4), 337-339.","year":2023,"type":"Journal Article (Further Contribution)"},{"title":"Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kort\u00fcm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., \u2026 Zweier, C. G. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/167070\u0022\u003EGenotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders\u003C\/a\u003E. \u003Ci\u003EGenetics in Medicine\u003C\/i\u003E, \u003Ci\u003E25\u003C\/i\u003E(8), 100885.","year":2023,"type":"Journal Article (Original Article)"},{"title":"Schmid, C. M., Gregor, A., Costain, G., Morel, C. F., Massingham, L., Schwab, J., Qu\u00e9lin, C., Faoucher, M., Kaplan, J., Procopio, R., Saunders, C. J., Cohen, A. S. A., Lemire, G., Sacharow, S., O\u2019Donnell-Luria, A., Segal, R. J., Shamshoni, J. K., Schweitzer, D., Ebrahimi-Fakhari, D., \u2026 Zweier, C. G. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/166470\u0022\u003ELHX2 haploinsufficiency causes a variable neurodevelopmental disorder\u003C\/a\u003E. \u003Ci\u003EGenetics in Medicine\u003C\/i\u003E, \u003Ci\u003E25\u003C\/i\u003E(7), 100839.","year":2023,"type":"Journal Article (Original Article)"},{"title":"Morison, L. D., Meffert, E., Stampfer, M., Steiner-Wilke, I., Vollmer, B., Schulze, K., Briggs, T., Braden, R., Vogel, A., Thompson-Lake, D., Patel, C., Blair, E., Goel, H., Turner, S., Moog, U., Riess, A., Liegeois, F., Koolen, D. A., Amor, D. J., \u2026 Morgan, A. T. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/88655\u0022\u003EIn-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2\u003C\/a\u003E. \u003Ci\u003EJournal of Medical Genetics\u003C\/i\u003E, \u003Ci\u003E60\u003C\/i\u003E(6), 597-607.","year":2023,"type":"Journal Article (Original Article)"},{"title":"Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P., L\u00f3pez-Mart\u00edn, E., Bermejo-S\u00e1nchez, E., Mart\u00ednez-Delgado, B., Zweier, C. G., Kraus, C., Popp, B., Strehlow, V., Gr\u00e4fe, D., Knerr, I., Jones, E. R., Zamuner, S., \u2026 Gennarino, V. A. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/171883\u0022\u003ECERT1 mutations perturb human development by disrupting sphingolipid homeostasis\u003C\/a\u003E. \u003Ci\u003EThe Journal of Clinical Investigation\u003C\/i\u003E, \u003Ci\u003E133\u003C\/i\u003E(10).","year":2023,"type":"Journal Article (Original Article)"},{"title":"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., \u2026 Stessman, H. A. F. (2023). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/165006\u0022\u003EMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice\u003C\/a\u003E. \u003Ci\u003EScience Advances\u003C\/i\u003E, \u003Ci\u003E9\u003C\/i\u003E(10), eade1463.","year":2023,"type":"Journal Article (Original Article)"},{"title":"Popp, B., Bienvenu, T., Giurgea, I., Metreau, J., Kraus, C., Reis, A., Fischer, J., Bralo, M. P., Castano, J. T., Lapunzina, P., Almoguera, B., Lopez-Grondona, F., Sticht, H., \u0026 Zweier, C. G. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/86450\u0022\u003EThe recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome\u003C\/a\u003E. \u003Ci\u003EClinical Genetics\u003C\/i\u003E, \u003Ci\u003E102\u003C\/i\u003E(6), 517-523.","year":2022,"type":"Journal Article (Original Article)"},{"title":"Gerber, C. B., Fliedner, A., Bartsch, O., Berland, S., Dewenter, M., Haug, M., Hayes, I., Marin-Reina, P., Mark, P. R., Martinez-Castellano, F., Maystadt, I., Karadurmus, D., Steindl, K., Wiesener, A., Zweier, M., Sticht, H., \u0026 Zweier, C. G. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/85446\u0022\u003EFurther characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6\u003C\/a\u003E. \u003Ci\u003EClinical Genetics\u003C\/i\u003E, \u003Ci\u003E102\u003C\/i\u003E(3), 182-190.","year":2022,"type":"Journal Article (Original Article)"},{"title":"Rieder, M. H., Kreifels, P., Stuplich, J., Ziupa, D., Servatius, H. S., Nicolai, L., Castiglione, A., Zweier, C. G., Asatryan, B., \u0026 Odening, K. E. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/86462\u0022\u003EGenotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome\u003C\/a\u003E. \u003Ci\u003EFrontiers in Cardiovascular Medicine\u003C\/i\u003E, \u003Ci\u003E9\u003C\/i\u003E, 916036.","year":2022,"type":"Journal Article (Original Article)"},{"title":"Al-Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., Reis, L. M., Semina, E. V., Lachlan, K., Chandler, K., Wright, T., Clayton-Smith, J., Hug, F. P., \u2026 McNeill, A. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/69487\u0022\u003ESOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile\u003C\/a\u003E. \u003Ci\u003EGenetics in Medicine\u003C\/i\u003E, \u003Ci\u003E24\u003C\/i\u003E(6), 1261-1273.","year":2022,"type":"Journal Article (Original Article)"},{"title":"Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., St\u00f6be, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S., \u2026 Zweier, C. G. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58582\u0022\u003EDe novo missense variants in FBXO11 alter its protein expression and subcellular localization\u003C\/a\u003E. \u003Ci\u003EHuman Molecular Genetics\u003C\/i\u003E, \u003Ci\u003E31\u003C\/i\u003E(3), 440-454.","year":2022,"type":"Journal Article (Original Article)"},{"title":"Hetzelt, K. L. M. L., Winterholler, M., Kerling, F., Rauch, C., Ekici, A. B., Winterpacht, A., Vasileiou, G., Uebe, S., Thiel, C. T., Kraus, C., Reis, A., \u0026 Zweier, C. G. (2022). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58581\u0022\u003EManifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)\u003C\/a\u003E. \u003Ci\u003EAmerican Journal of Medical Genetics. Part A\u003C\/i\u003E, \u003Ci\u003E188\u003C\/i\u003E(1), 292-297.","year":2022,"type":"Journal Article (Further Contribution)"},{"title":"Liu, S., Aldinger, K. A., Cheng, C. V., Kiyama, T., Dave, M., McNamara, H. K., Zhao, W., Stafford, J. M., Descostes, N., Lee, P., Caraffi, S. G., Ivanovski, I., Errichiello, E., Zweier, C. G., Zuffardi, O., Schneider, M., Papavasiliou, A. S., Perry, M. S., Humberson, J., \u2026 Reinberg, D. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58579\u0022\u003ENRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain\u003C\/a\u003E. \u003Ci\u003EMolecular Cell\u003C\/i\u003E, \u003Ci\u003E81\u003C\/i\u003E(22), 4757.","year":2021,"type":"Journal Article (Further Contribution)"},{"title":"Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., H\u00fcffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., M\u00f8ller, R. S., \u2026 Pal, D. K. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58580\u0022\u003EZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder\u003C\/a\u003E. \u003Ci\u003EClinical Genetics\u003C\/i\u003E, \u003Ci\u003E100\u003C\/i\u003E(4), 412-429.","year":2021,"type":"Journal Article (Original Article)"},{"title":"Bayat, A., Iqbal, S., Borredy, K., Amiel, J., Zweier, C. G., Barcia, G., Kraus, C., Weyhreter, H., Bassuk, A. G., Chopra, M., Rubboli, G., \u0026 M\u00f8ller, R. S. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58584\u0022\u003EPRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Human Genetics\u003C\/i\u003E, \u003Ci\u003E29\u003C\/i\u003E(8), 1235-1244.","year":2021,"type":"Journal Article (Original Article)"},{"title":"Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, \u00d8. L., Chenbhanich, J., Denecke, J., \u2026 Lessel, D. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58585\u0022\u003EGenotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders\u003C\/a\u003E. \u003Ci\u003EGenome Medicine\u003C\/i\u003E, \u003Ci\u003E13\u003C\/i\u003E(1), 90.","year":2021,"type":"Journal Article (Original Article)"},{"title":"H\u00fcffmeier, U., Kraus, C., Reuter, M. S., Uebe, S., Abbott, M.-A., Ahmed, S. A., Rawson, K. L., Barr, E., Li, H., Bruel, A.-L., Faivre, L., Tran Mau-Them, F., Botti, C., Brooks, S., Burns, K., Ward, D. I., Dutra-Clarke, M., Martinez-Agosto, J. A., Lee, H., \u2026 Zweier, C. G. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58586\u0022\u003EEIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum\u003C\/a\u003E. \u003Ci\u003EOrphanet Journal of Rare Diseases\u003C\/i\u003E, \u003Ci\u003E16\u003C\/i\u003E(1), 136.","year":2021,"type":"Journal Article (Original Article)"},{"title":"Koszty\u0142a-Hojna, B., Borys, J., Zdrojkowski, M., Duchnowska, E., Kraszewska, A., Wasilewska, D., Zweier, C. G., \u0026 Midro, A. T. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/58583\u0022\u003EPhoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study\u003C\/a\u003E. \u003Ci\u003EThe Application of Clinical Genetics\u003C\/i\u003E, \u003Ci\u003E14\u003C\/i\u003E, 389-398.","year":2021,"type":"Journal Article (Further Contribution)"},{"title":"Hetzelt, K. L., Kerling, F., Kraus, C., Rauch, C., Thiel, C. T., Winterholler, M., Reis, A., \u0026 Zweier, C. G. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/39246\u0022\u003EEarly-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder\u003C\/a\u003E. \u003Ci\u003EEuropean Journal of Medical Genetics\u003C\/i\u003E, \u003Ci\u003E64\u003C\/i\u003E(1), 104123.","year":2021,"type":"Journal Article (Original Article)"},{"title":"Schalk, A., Cousin, M. A., Dsouza, N. R., Challman, T. D., Wain, K. E., Powis, Z., Minks, K., Trimouille, A., Lasseaux, E., Lacombe, D., Angelini, C., Michaud, V., Van-Gils, J., Spataro, N., Ruiz, A., Gabau, E., Stolerman, E., Washington, C., Louie, R., \u2026 Gerard, B. (2021). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/59492\u0022\u003EDe novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability\u003C\/a\u003E. \u003Ci\u003EJournal of Medical Genetics\u003C\/i\u003E, \u003Ci\u003E59\u003C\/i\u003E(10), 965-975.","year":2021,"type":"Journal Article (Original Article)"},{"title":"Fliedner, A., Gregor, A., Ferrazzi, F., Ekici, A. B., Sticht, H., \u0026 Zweier, C. G. (2020). \u003Ca target=\u0022_blank\u0022 href=\u0022https:\/\/boris-portal.unibe.ch\/handle\/20.500.12422\/39245\u0022\u003ELoss of PHF6 leads to aberrant development of human neuron-like cells\u003C\/a\u003E. \u003Ci\u003EScientific Reports\u003C\/i\u003E, \u003Ci\u003E10\u003C\/i\u003E(1), 19030.","year":2020,"type":"Journal Article (Original Article)"}]}