Publications 2023
Abdel-Salam, G.M.H., Afifi, H.H., Abdel-Hamid, M.S., Ahmed, N.E.B., Taher, M.B., El-Kamah, G., Thiele, H., Nurnberg, P.N., and Bolz, H.J. (2023). Expanding the phenotypic spectrum and clinical severity associated with WLS gene. Journal of human genetics. https://www.ncbi.nlm.nih.gov/pubmed/37106064.
Abo Zed, S.E.D., Hackl, A., Bohl, K., Ebert, L., Kieckhofer, E., Muller, C., Becker, K., Fink, G., Nusken, K.D., Nusken, E., Muller, R.U., Schermer, B., and Weber, L.T. (2023). Mycophenolic acid directly protects podocytes by preserving the actin cytoskeleton and increasing cell survival. Scientific reports 13, 4281. https://www.ncbi.nlm.nih.gov/pubmed/36922538.
Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmuller, J., Korejo, A.A., Nurnberg, G., Thiele, H., Tariq, M., Nurnberg, P., and Erdmann, J. (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. Journal of human genetics 68, 107-109. https://www.ncbi.nlm.nih.gov/pubmed/36217027.
Asif, M., Anayat, M., Tariq, F., Noureen, T., Din, G.N.U., Becker, C., Becker, K., Thiele, H., Makhdoom, E.U.H., Shaiq, P.A., Baig, S.M., Nurnberg, P., Hussain, M.S., Raja, G.K., and Abdullah, U. (2022). Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes (Basel) 14. https://www.ncbi.nlm.nih.gov/pubmed/36672789.
Brunger, T., Perez-Palma, E., Montanucci, L., Nothnagel, M., Moller, R.S., Schorge, S., Zuberi, S., Symonds, J., Lemke, J.R., Brunklaus, A., Traynelis, S.F., May, P., and Lal, D. (2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain 146, 923-934. https://www.ncbi.nlm.nih.gov/pubmed/36036558.
Hoffmann, L., Coras, R., Kobow, K., Lopez-Rivera, J.A., Lal, D., Leu, C., Najm, I., Nurnberg, P., Herms, J., Harter, P.N., Bien, C.G., Kalbhenn, T., Muller, M., Pieper, T., Hartlieb, T., Kudernatsch, M., Hamer, H., Brandner, S., Rossler, K., Blumcke, I., and Jabari, S. (2023). Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica 145, 815-827. https://www.ncbi.nlm.nih.gov/pubmed/36973520.
Iqbal, S., Brunger, T., Perez-Palma, E., Macnee, M., Brunklaus, A., Daly, M.J., Campbell, A.J., Hoksza, D., May, P., and Lal, D. (2023). Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain 146, 519-533. https://www.ncbi.nlm.nih.gov/pubmed/36256779.
Ishorst, N., Henschel, L., Thieme, F., Drichel, D., Sivalingam, S., Mehrem, S.L., Fechtner, A.C., Fazaal, J., Welzenbach, J., Heimbach, A., Maj, C., Borisov, O., Hausen, J., Raff, R., Hoischen, A., Dixon, M., Rada-Iglesias, A., Bartusel, M., Rojas-Martinez, A., Aldhorae, K., Braumann, B., Kruse, T., Kirschneck, C., Spanier, G., Reutter, H., Nowak, S., Golz, L., Knapp, M., Buness, A., Krawitz, P., Nothen, M.M., Nothnagel, M., Becker, T., Ludwig, K.U., and Mangold, E. (2023). Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Molecular genetics & genomic medicine 11, e2109. https://www.ncbi.nlm.nih.gov/pubmed/36468602.
Keil, P., Wulf, A., Kachariya, N., Reuscher, S., Huhn, K., Silbern, I., Altmuller, J., Keller, M., Stehle, R., Zarnack, K., Sattler, M., Urlaub, H., and Strasser, K. (2023). Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA. Nucleic Acids Res 51, 831-851. https://www.ncbi.nlm.nih.gov/pubmed/36583366.
Lopez-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Perez-Palma, E., Hamer, H., Brandner, S., Rossler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmuller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nurnberg, P., Najm, I., Blumcke, I., and Lal, D. (2023). The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain 146, 1342-1356. https://www.ncbi.nlm.nih.gov/pubmed/36226386.
Macnee, M., Perez-Palma, E., Lopez-Rivera, J.A., Ivaniuk, A., May, P., Moller, R.S., and Lal, D. (2023). Data-driven historical characterization of epilepsy-associated genes. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 42, 82-87. https://www.ncbi.nlm.nih.gov/pubmed/36586220.
Mangiante, L., Alcala, N., Sexton-Oates, A., Di Genova, A., Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J., Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S., Cuenin, C., Tabone-Eglinger, S., Damiola, F., Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M., Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R., Meyer, V., Boland-Auge, A., Deleuze, J.F., Altmuller, J., Nuernberg, P., Ibanez-Costa, A., Castano, J.P., Lantuejoul, S., Ghantous, A., Maussion, C., Courtiol, P., Hernandez-Vargas, H., Caux, C., Girard, N., Lopez-Bigas, N., Alexandrov, L.B., Galateau-Salle, F., Foll, M., and Fernandez-Cuesta, L. (2023). Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity. Nat Genet 55, 607-618. https://www.ncbi.nlm.nih.gov/pubmed/36928603.
Noor Ul Ayan, H., Ali, P.S., Korejo, A.A., Thiele, H., Nurnberg, P., Tariq, M., Jamal, S.Z., Erdmann, J., and Ahmad, I. (2023). Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy. Clin Genet. https://www.ncbi.nlm.nih.gov/pubmed/36843528.
Smuk, V., Lopez-Rivera, J.A., Leu, C., and Lal, D. (2023). The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population. European journal of human genetics : EJHG 31, 243-247. https://www.ncbi.nlm.nih.gov/pubmed/36253532.
Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmuller, J., Becker, K., Kohrer, K., Zsurka, G., and Kunz, W.S. (2023). The Fate of Oxidative Strand Breaks in Mitochondrial DNA. Antioxidants (Basel) 12. https://www.ncbi.nlm.nih.gov/pubmed/37237953.
von Brauchitsch, S., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F., Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C.B., Altmuller, J., Strzelczyk, A., Knake, S., Rosenow, F., Chiocchetti, A., and Klein, K.M. (2023). The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing. Epilepsia Open 8, 497-508. https://www.ncbi.nlm.nih.gov/pubmed/36896643.
Zarate, Y.A., Bosanko, K., Kannan, A., Thomason, A., Nutt, B., Kumar, N., Simmons, K., Hiegert, A., Hartzell, L., Johnson, A., Prater, T., Perez-Palma, E., Brunger, T., Stefanski, A., Lal, D., and Caffrey, A.R. (2023). Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome. Human Mutation 2023. <Go to ISI>://WOS:000982654900001.