Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Elkhateeb, N., Crookes, R., Spiller, M., Pavinato, L., Palermo, F., Brusco, A., Parker, M., Park, S. M., Mendes, A. C., Saraiva, J. M., Hammer, T. B., Nazaryan-Petersen, L., Barakat, T. S., Wilke, M., Bhoj, E., Ahrens-Nicklas, R. C., Li, D., Nomakuchi, T., Brilstra, E. H. & Hunt, D. & 51 others, Johnson, D., Mansour, S., Oprych, K., Mehta, S. G., Platzer, K., Schnabel, F., Kiep, H., Faust, H., Prinzing, G., Wiltrout, K., Radley, J. A., Serrano Russi, A. H., Atallah, I., Campos-Xavier, B., Amor, D. J., Morgan, A. T., Fagerberg, C., Andersen, U. A., Andersen, C. B., Bijlsma, E. K., Bird, L. M., Mullegama, S. V., Green, A., Isidor, B., Cogné, B., Kenny, J., Lynch, S. A., Quin, S., Low, K., Herget, T., Kortüm, F., Levy, R. J., Morrison, J. L., Wheeler, P. G., Narumanch, T. C., Peron, K., Matthews, N., Uhlman, J., Bell, L., Pang, L., Scurr, I., Belles, R. S., Salbert, B. A., Schaefer, G. B., Green, S., Ros, A., Rodríguez-Palmero, A., Višnjar, T., Writzl, K., Vasudevan, P. C. & Balasubramanian, M., 2025, In: Genetics in Medicine. 27, 3, 17 p., 101348.

Research output: Contribution to journal › Journal article › Research › peer-review

A novel DOCK2 variant in siblings with severe combined immunodeficiency

Bruusgaard-Mouritsen, M. A., Masmas, T., Borgwardt, L., Nazaryan-Petersen, L., Heilmann, C., Madsen, H. O. & Vibeke Marquart, H., 2023, In: Scandinavian Journal of Immunology. 97, 3, 4 p., e13243.

Research output: Contribution to journal › Comment/debate › Research › peer-review

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Undiagnosed Diseases Network, 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2022, In: Scientific Reports. 12, 14959.

Research output: Contribution to journal › Journal article › Research › peer-review

Chromothripsis and DNA Repair Disorders

Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tuemer, Z., 2020, In: Journal of Clinical Medicine. 9, 3, 9 p., 613.

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

Haploinsufficiency of ARHGAP42 is associated with hypertension

Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C. & Tommerup, N., 2019, In: Human Mutation. 40, 8, p. 1057-1062

Research output: Contribution to journal › Journal article › Research › peer-review

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas, N. E., Xumerle, L., Leonardelli, L., Delledonne, M., Brusco, A., Chrzanowska, K., Schinzel, A., Larizza, D., Guerneri, S., Natacci, F., Bonaglia, M. C., Reho, P., Manolakos, E., Mattina, T., Soli, F., Provenzano, A., Al-Rikabi, A. H., Errichiello, E., Nazaryan-Petersen, L. & Giglio, S. & 3 others, Tommerup, N., Liehr, T. & Zuffardi, O., 2019, In: Human Mutation. 401, 2, p. 193-200

Research output: Contribution to journal › Journal article › Research › peer-review