skip to content

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.

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.

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.

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.

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.

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.

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.

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.

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.