Publications 2024
Alidousty, C., Becker, A., Binot, E., Hillmer, A.M., Merkelbach-Bruse, S., Budde, B., Bassmann, I., Rappl, G., Wolf, J., Eich, M.L., Noh, K.W., Buettner, R., and Schultheis, A.M. (2024). Frequency and functional characterization of fusion genes in squamous cell carcinoma of the lung. Gene 895, 148018. https://www.ncbi.nlm.nih.gov/pubmed/37981082.
Asif, M., Khayyat, A.I.A., Alawbathani, S., Abdullah, U., Sanner, A., Georgomanolis, T., Haasters, J., Becker, K., Budde, B., Becker, C., Thiele, H., Baig, S.M., Isidoro-Garcia, M., Winter, D., Pogoda, H.M., Muhammad, S., Hammerschmidt, M., Kraft, F., Kurth, I., Martin, H.G., Wagner, M., Nurnberg, P., and Hussain, M.S. (2024). Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. Genetics in medicine : official journal of the American College of Medical Genetics 26, 101143. https://www.ncbi.nlm.nih.gov/pubmed/38641995.
Asif, M., Khayyat, A.I.A., Pogoda, H.M., Alawbethani, S., Sanner, A., Georgomanolis, T., Haasters, J., Budde, B., Becker, C., Thiele, H., Winter, D., Martin, H.G., Hammerschmidt, M., Wagner, M., Nürnberg, P., and Hussain, M.S. (2024). ZFTRAF1 deficiency causes syndromic microcephaly in humans and gross defects in zebrafish. European Journal of Human Genetics 32, 38-38. <Go to ISI>://WOS:001147414900084.
Aslam, K., Saeed, A., Jamil, I., Saeed, H.I., Khan, R., Hassan, S., Rafiq, S., Asif, M., Makhdoom, E.U.H., Bashir, R., Hussain, M.S., Baig, S.M., and Anjum, I. (2024). Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family. Mol Biol Rep 51, 104. https://www.ncbi.nlm.nih.gov/pubmed/38224417.
Aslam, K., Saeed, A., Saeed, H.I., Bashir, R., Abid, H., Akhtar, R., Habib, N., Khan, R., Asif, R., Rafiq, S., Asif, M., Makhdoom, E.U.H., Hussain, M.S., Baig, S.M., and Anjum, I. (2024). Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly. Mol Biol Rep 51, 783. https://www.ncbi.nlm.nih.gov/pubmed/38926176.
Bosselmann, C.M., Ivaniuk, A., St John, M., Taylor, S.C., Krishnaswamy, G., Milinovich, A., Leu, C., Gupta, A., Pestana-Knight, E.M., Najm, I., and Lal, D. (2024). Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records. Brain Commun 6, fcae090. https://www.ncbi.nlm.nih.gov/pubmed/38524155.
Gallagher, D., Perez-Palma, E., Bruenger, T., Ghanty, I., Brilstra, E., Ceulemans, B., Chemaly, N., de Lange, I., Depienne, C., Guerrini, R., Mei, D., Moller, R.S., Nabbout, R., Regan, B.M., Schneider, A.L., Scheffer, I.E., Schoonjans, A.S., Symonds, J.D., Weckhuysen, S., Zuberi, S.M., Lal, D., and Brunklaus, A. (2024). Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia 65, 1046-1059. https://www.ncbi.nlm.nih.gov/pubmed/38410936.
George, J., Maas, L., Abedpour, N., Cartolano, M., Kaiser, L., Fischer, R.N., Scheel, A.H., Weber, J.P., Hellmich, M., Bosco, G., Volz, C., Mueller, C., Dahmen, I., John, F., Alves, C.P., Werr, L., Panse, J.P., Kirschner, M., Engel-Riedel, W., Jurgens, J., Stoelben, E., Brockmann, M., Grau, S., Sebastian, M., Stratmann, J.A., Kern, J., Hummel, H.D., Hegedus, B., Schuler, M., Plones, T., Aigner, C., Elter, T., Toepelt, K., Ko, Y.D., Kurz, S., Grohe, C., Serke, M., Hopker, K., Hagmeyer, L., Doerr, F., Hekmath, K., Strapatsas, J., Kambartel, K.O., Chakupurakal, G., Busch, A., Bauernfeind, F.G., Griesinger, F., Luers, A., Dirks, W., Wiewrodt, R., Luecke, A., Rodermann, E., Diel, A., Hagen, V., Severin, K., Ullrich, R.T., Reinhardt, H.C., Quaas, A., Bogus, M., Courts, C., Nurnberg, P., Becker, K., Achter, V., Buttner, R., Wolf, J., Peifer, M., and Thomas, R.K. (2024). Evolutionary trajectories of small cell lung cancer under therapy. Nature 627, 880-889. https://www.ncbi.nlm.nih.gov/pubmed/38480884.
Heger, J.M., d'Hargues, Y., Kleinert, F., Mattlener, J., Weiss, J., Franzen, F., Becker, C., Becker, K., Godel, P., Schmiel, M., Meinel, J., Flumann, R., Simon, F., Reinhardt, H.C., Borchmann, P., Borchmann, S., Balke-Want, H., Knittel, G., and von Tresckow, B. (2024). Noninvasive minimal residual disease assessment in relapsed/refractory large B-cell lymphoma using digital droplet PCR. Eur J Haematol 112, 957-963. https://www.ncbi.nlm.nih.gov/pubmed/38369814.
Heger, J.M., Mattlener, J., Schneider, J., Godel, P., Sieg, N., Ullrich, F., Lewis, R., Bucaciuc-Mracica, T., Schwarz, R.F., Ruess, D., Ruge, M.I., Montesinos-Rongen, M., Deckert, M., Blau, T., Kutsch, N., Balke-Want, H., Weiss, J., Becker, K., Reinhardt, H.C., Hallek, M., Borchmann, P., von Tresckow, B., and Borchmann, S. (2024). Entirely noninvasive outcome prediction in central nervous system lymphomas using circulating tumor DNA. Blood 143, 522-534. https://www.ncbi.nlm.nih.gov/pubmed/37946299.
Hofmann, S., Rodder, D., Andermann, T., Matschiner, M., Riedel, J., Baniya, C.B., Flecks, M., Yang, J., Jiang, K., Jianping, J., Litvinchuk, S.N., Martin, S., Masroor, R., Nothnagel, M., Vershinin, V., Zheng, Y., Jablonski, D., Schmidt, J., and Podsiadlowski, L. (2024). Exploring Paleogene Tibet's warm temperate environments through target enrichment and phylogenetic niche modelling of Himalayan spiny frogs (Paini, Dicroglossidae). Mol Ecol, e17446. https://www.ncbi.nlm.nih.gov/pubmed/38946613.
Jamil, M.A., Al-Rifai, R., Nuesgen, N., Altmuller, J., Oldenburg, J., and El-Maarri, O. (2024). The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression. Frontiers in genetics 15, 1302685. https://www.ncbi.nlm.nih.gov/pubmed/38440189.
Kalanithy, J., Thiele, H., Waffenschmidt, L., Schneider, S., Stegmann, J.D., Reutter, H., Merz, W., and Dworschak, G. (2024). Reverse phenotyping of novel COL4A1 variants in fetuses with brain malformations expands the phenotypic spectrum. European Journal of Human Genetics 32, 511-511. <Go to ISI>://WOS:001147414902428.
Kalanithy, J.C., Thiele, H., Waffenschmidt, L., Stegmann, J.D., Schneider, S., Reutter, H., Merz, W., and Dworschak, G. (2024). Prenatal diagnostic exome sequencing analysis in 207 fetuses with congenital CNS anomalies. European Journal of Human Genetics 32, 502-502. <Go to ISI>://WOS:001147414902404.
Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmuller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E.A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nurnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., Elsayed, L.E.O., and Lerche, H. (2024). Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy. European journal of human genetics : EJHG. https://www.ncbi.nlm.nih.gov/pubmed/38316952.
Makhdoom, E.U., Asif, M., Abu Bakar, M., Sheraz, K., Alawbethani, S., Hoehne, W., Anjum, I., Fatima, A., Baig, J., Georgomanolis, T., Budde, B., Irshad, S., Zastrow, D., Kohler, J., Wheeler, M., Bernstein, J., Cirak, S., Nürnberg, P., Baig, S.M., Latif, F., Hussain, M.S., Batool, T., Hussain, G., and Anwar, H. (2024). Biallelic variants in POLR3A encoding catalytic subunit of human RNA polymerase III cause primary microcephaly through perturbation of the mTOR signaling pathway. European Journal of Human Genetics 32, 504-505. <Go to ISI>://WOS:001147414902410.
Martin, C.A., Sarlos, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmuller, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-Garcia, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Mundi Dhahrabi, H.A., Elcioglu, N.H., Gosgene, Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nurnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., Hickson, I.D., and Jackson, A.P. (2024). Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet 111, 996. https://www.ncbi.nlm.nih.gov/pubmed/38701747.
Montanucci, L., Brunger, T., and Lal, D. (2024). Reply: Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach. Brain 147, e41-e42. https://www.ncbi.nlm.nih.gov/pubmed/38207091.
Riesmeijer, S.A., Kamali, Z., Ng, M., Drichel, D., Piersma, B., Becker, K., Layton, T.B., Nanchahal, J., Nothnagel, M., Vaez, A., Hennies, H.C., Werker, P.M.N., Furniss, D., and Nolte, I.M. (2024). A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease. Nature communications 15, 199. https://www.ncbi.nlm.nih.gov/pubmed/38172110.
Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S.L., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K., Li, Y., Wollnik, B., and Yigit, G. (2024). Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. European Journal of Human Genetics 32, 520-520. <Go to ISI>://WOS:001147414902452.
Schouten, P.C., Schmidt, S., Becker, K., Thiele, H., Nurnberg, P., Richters, L., Ernst, C., Treilleux, I., Medioni, J., Heitz, F., Pisano, C., Garcia, Y., Petru, E., Hietanen, S., Colombo, N., Vergote, I., Nagao, S., Linn, S.C., Pujade-Lauraine, E., Ray-Coquard, I., Harter, P., Hahnen, E., and Schmutzler, R.K. (2024). Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations. Jama Netw Open 7, e245552. https://www.ncbi.nlm.nih.gov/pubmed/38592722.
Siribbal, S.M., Jurewicz, A., Hassan, M., Iqbal, S., Hu, Z.J., Uvdal, K., Hussain, M.S., Mathur, S., and Ilyas, S. (2024). Biocompatible Hollow Gadolinium Oxide Nanocarriers for the Transport of Bioactive Molecules to Cells. ACS Appl Nano Mater 7, 12408-12419. <Go to ISI>://WOS:001230353800001.
Stoneley, R., Franco, P.G., Süssmuth, K., Oji, V., Traupe, H., Eckl, K., and Hennies, H.C. (2024). A functional analysis of pathogenic variants in NIPAL4 in patients with congenital ichthyosis. European Journal of Human Genetics 32, 409-409. <Go to ISI>://WOS:001147414902165.
Whitchurch, J.B., Schneider, S., Hilger, A.C., Kollges, R., Stegmann, J.D., Waffenschmidt, L., Dyer, L., Thiele, H., Dhabhai, B., Dakal, T.C., Muller, A., Norris, D.P., and Reutter, H.M. (2024). PKD1L1 Is Involved in Congenital Chylothorax. Cells 13. https://www.ncbi.nlm.nih.gov/pubmed/38247840.