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Cologne Center for Genomics (CCG)

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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. 10.1016/j.gene.2023.148018 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. 10.1016/j.gim.2024.101143 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. 10.1007/s11033-023-09161-2 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. 10.1007/s11033-024-09728-7 https://www.ncbi.nlm.nih.gov/pubmed/38926176.


Bhattarai, N., Montanucci, L., Bruenger, T., Perez-Palma, E., Martin, W., Smith, I.N., Cheng, F.X., Eng, C., Helbig, I., Moller, R.S., Brunklaus, A., Schorge, S., and Lal, D. (2024). Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants. Biophys J 123: 109a-110a. <Go to ISI>://WOS:001194120700523.


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. 10.1093/braincomms/fcae090 https://www.ncbi.nlm.nih.gov/pubmed/38524155.


Busley, A.V., Gutierrez-Gutierrez, O., Hammer, E., Koitka, F., Mirzaiebadizi, A., Steinegger, M., Pape, C., Bohmer, L., Schroeder, H., Kleinsorge, M., Engler, M., Cirstea, I.C., Gremer, L., Willbold, D., Altmuller, J., Marbach, F., Hasenfuss, G., Zimmermann, W.H., Ahmadian, M.R., Wollnik, B., and Cyganek, L. (2024). Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome. Cell Rep 43: 114448. 10.1016/j.celrep.2024.114448 https://www.ncbi.nlm.nih.gov/pubmed/39003740.


Cesarato, N., Schwieger-Briel, A., Gossmann, Y., Henne, S.K., Hillmann, K., Frommherz, L., Wehner, M., Xiong, X., Thiele, H., Oji, V., Milani, D., Tantcheva-Poor, I., Giehl, K., Fölster-Holst, R., Teichler, A., Braeckmans, D., Höger, P., Jones, G., Frank, J., Weibel, L., Blume-Peytavi, U., Hamm, H., Nöthen, M., Geyer, M., Heilmann-Heimbach, S., Basmanav, F.B., and Betz, R.C. (2024). Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss. European Journal of Human Genetics 32: 1366-1366.


Errbii, M., Gadau, J., Becker, K., Schrader, L., and Oettler, J. (2024). Causes and consequences of a complex recombinational landscape in the ant Cardiocondyla obscurior. Genome research 34: 863-876. 10.1101/gr.278392.123 https://www.ncbi.nlm.nih.gov/pubmed/38839375.


Fislage, M., Winzeck, S., Woodrow, R., Lammers-Lietz, F., Stamatakis, E.A., Correia, M.M., Preller, J., Feinkohl, I., Hendrikse, J., Pischon, T., Spies, C.D., Slooter, A.J.C., Winterer, G., Menon, D.K., Zacharias, N., and Consortium, B. (2024). Structural disconnectivity in postoperative delirium: A perioperative two-center cohort study in older patients. Alzheimers Dement 20: 2861-2872. 10.1002/alz.13749 https://www.ncbi.nlm.nih.gov/pubmed/38451782.


Foo, J.C., Volker, M.P., Streit, F., Frank, J., Zacharias, N., Zillich, L., Sirignano, L., Nurnberg, P., Wienker, T.F., Wagner, M., Nothen, M.M., Nothnagel, M., Walter, H., Lenz, B., Spanagel, R., Kiefer, F., Winterer, G., Rietschel, M., and Witt, S.H. (2024). Polygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviour. Drug Alcohol Depend 263: 112415. 10.1016/j.drugalcdep.2024.112415 https://www.ncbi.nlm.nih.gov/pubmed/39197361.


Galer, P.D., Parthasarathy, S., Xian, J., McKee, J.L., Ruggiero, S.M., Ganesan, S., Kaufman, M.C., Cohen, S.R., Haag, S., Chen, C., Ojemann, W.K.S., Kim, D., Wilmarth, O., Vaidiswaran, P., Sederman, C., Ellis, C.A., Gonzalez, A.K., Bosselmann, C.M., Lal, D., Sederman, R., Lewis-Smith, D., Litt, B., and Helbig, I. (2024). Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals. Genetics in medicine : official journal of the American College of Medical Genetics 26: 101211. 10.1016/j.gim.2024.101211 https://www.ncbi.nlm.nih.gov/pubmed/39011766.


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. 10.1111/epi.17882 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., Jürgens, J., Stoelben, E., Brockmann, M., Grau, S., Sebastian, M., Stratmann, J.A., Kern, J., Hummel, H.D., Hegedüs, B., Schuler, M., Plönes, T., Aigner, C., Elter, T., Toepelt, K., Ko, Y.D., Kurz, S., Grohé, C., Serke, M., Höpker, 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., Nürnberg, P., Becker, K., Achter, V., Büttner, R., Wolf, J., Peifer, M., and Thomas, R.K. (2024). Evolutionary trajectories of small cell lung cancer under therapy. Nature 627: 880-889. 10.1038/s41586-024-07177-7 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., Gödel, P., Schmiel, M., Meinel, J., Flümann, 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. 10.1111/ejh.14191 https://www.ncbi.nlm.nih.gov/pubmed/38369814.


Heger, J.M., Mattlener, J., Schneider, J., Goedel, 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. 10.1182/blood.2023022020 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 33: e17446. 10.1111/mec.17446 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. 10.3389/fgene.2024.1302685 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.


Khellaf, L., Ralf, A., Nguyen, K.T., Kayser, M., and Nothnagel, M. (2024). SMapper: Visualising spatial prevalence data while accounting for data sparseness and incompleteness. European Journal of Human Genetics 32: 1633-1633.


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 32: 1338-1342. 10.1038/s41431-024-01541-x https://www.ncbi.nlm.nih.gov/pubmed/38316952.


Landoulsi, Z., Sreelatha, A.A.K., Schulte, C., Bobbili, D.R., Montanucci, L., Leu, C., Niestroj, L.M., Hassanin, E., Domenighetti, C., Pavelka, L., Sugier, P.E., Radivojkov-Blagojevic, M., Lichtner, P., Portugal, B., Edsall, C., Kru Ger, J., Hernandez, D.G., Blauwendraat, C., Mellick, G.D., Zimprich, A., Pirker, W., Tan, M., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschlander, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Burbulla, L.F., Matsuo, H., Nakayama, A., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Kolber, P., van de Warrenburg, B.P., Bloem, B.R., Singleton, A.B., Toft, M., Pihlstrom, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Clarke, C.E., Morrison, K.E., Krainc, D., Farrer, M.J., Lal, D., Elbaz, A., Gasser, T., Kruger, R., Sharma, M., and May, P. (2024). Genome-wide association study of copy number variations in Parkinson's disease. medRxiv:  10.1101/2024.08.21.24311915 https://www.ncbi.nlm.nih.gov/pubmed/39228715.


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. 10.1016/j.ajhg.2024.04.008 https://www.ncbi.nlm.nih.gov/pubmed/38701747.


Mohren, L., Erdlenbruch, F., Leitao, E., Kilpert, F., Hones, G.S., Kaya, S., Schroder, C., Thieme, A., Sturm, M., Park, J., Schluter, A., Ruiz, M., Morales de la Prida, M., Casasnovas, C., Becker, K., Roggenbuck, U., Pechlivanis, S., Kaiser, F.J., Synofzik, M., Wirth, T., Anheim, M., Haack, T.B., Lockhart, P.J., Jockel, K.H., Pujol, A., Klebe, S., Timmann, D., and Depienne, C. (2024). Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions. Nature communications 15: 7665. 10.1038/s41467-024-52148-1 https://www.ncbi.nlm.nih.gov/pubmed/39227614.


Montanucci, L., Brunger, T., Bhattarai, N., Bosselmann, C.M., Kim, S., Allen, J.P., Zhang, J., Klockner, C., Krey, I., Fariselli, P., May, P., Lemke, J.R., Myers, S.J., Yuan, H., Traynelis, S.F., and Lal, D. (2024). Ligand distances as key predictors of pathogenicity and function in NMDA receptors. Hum Mol Genet:  10.1093/hmg/ddae156 https://www.ncbi.nlm.nih.gov/pubmed/39535073.


Montanucci, L., Brunger, T., Bosselmann, C.M., Ivaniuk, A., Perez-Palma, E., Lhatoo, S., Leu, C., and Lal, D. (2024). Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants. Epilepsia:  10.1111/epi.18155 https://www.ncbi.nlm.nih.gov/pubmed/39440667.


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. 10.1093/brain/awae009 https://www.ncbi.nlm.nih.gov/pubmed/38207091.


Pablo, J.L.B., Cornett, S.L., Wang, L.A., Jo, S., Brunger, T., Budnik, N., Hegde, M., DeKeyser, J.M., Thompson, C.H., Doench, J.G., Lal, D., George, A.L., Jr., and Pan, J.Q. (2024). Scanning mutagenesis of the voltage-gated sodium channel Na(V)1.2 using base editing. Cell Rep 43: 114327. 10.1016/j.celrep.2024.114327 https://www.ncbi.nlm.nih.gov/pubmed/38823014.


Pacholewska, A., Lienhard, M., Bruggemann, M., Hanel, H., Bilalli, L., Konigs, A., Hess, F., Becker, K., Kohrer, K., Kaiser, J., Gohlke, H., Gattermann, N., Hallek, M., Herling, C.D., Konig, J., Grimm, C., Herwig, R., Zarnack, K., and Schweiger, M.R. (2024). Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations. Genome research:  10.1101/gr.279327.124 https://www.ncbi.nlm.nih.gov/pubmed/39271291.


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. 10.1038/s41467-023-44451-0 https://www.ncbi.nlm.nih.gov/pubmed/38172110.


Sanders, M., Koeleman, B.P.C., Brilstra, E.H., Jansen, F.E., Baldassari, S., Chipaux, M., Sim, N.S., Ko, A., Kang, H.C., Blumcke, I., Lal, D., Baulac, S., Lee, J.H., Aronica, E., and Braun, K.P.J. (2024). Somatic variant analysis of resected brain tissue in epilepsy surgery patients. Epilepsia:  10.1111/epi.18148 https://www.ncbi.nlm.nih.gov/pubmed/39460693.


Schmidt, A., Casadei, N., Brand, F., Demidov, G., Vojgani, E., Abolhassani, A., Aldisi, R., Butler-Laporte, G., Alawathurage, T.M., Augustin, M., Bals, R., Bellinghausen, C., Berger, M.M., Bitzer, M., Bode, C., Boos, J., Brenner, T., Cornely, O.A., Eggermann, T., Erber, J., Feldt, T., Fuchsberger, C., Gagneur, J., Göpel, S., Haack, T., Häberle, H., Hanses, F., Heggemann, J., Hehr, U., Hellmuth, J.C., Herr, C., Hinney, A., Hoffmann, P., Illig, T., Jensen, B.E.O., Keitel, V., Kim-Hellmuth, S., Koehler, P., Kurth, I., Lanz, A.L., Latz, E., Lehmann, C., Luedde, T., Maj, C., Mian, M., Miller, A., Muenchhoff, M., Pink, I., Protzer, U., Rohn, H., Rybniker, J., Scaggiante, F., Schaffeldt, A., Scherer, C., Schieck, M., Schmidt, S.V., Schommers, P., Spinner, C.D., Vehreschild, M., Velavan, T.P., Volland, S., Wilfling, S., Winter, C., Richards, J.B., Heimbach, A., Becker, K., Ossowski, S., Schultze, J.L., Nürnberg, P., Nöthen, M.M., Motameny, S., Nothnagel, M., Riess, O., Schulte, E.C., and Ludwig, K.U. (2024). Systematic assessment of COVID-19 host genetics using whole genome sequencing data. PLoS pathogens 20: e1012786. 10.1371/journal.ppat.1012786 https://www.ncbi.nlm.nih.gov/pubmed/39715278.


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. 10.1001/jamanetworkopen.2024.5552 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. 10.1021/acsanm.4c00404 <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.


Vojgani, E., Tripathi, K.P., Kleineidam, L., Zuniga, A.R., and Nothnagel, M. (2024). Pathway Analysis in Cognitive Decline using Longitudinal Data with Respect to Common Variants. European Journal of Human Genetics 32: 1668-1669.


Werr, L., Bartenhagen, C., Rosswog, C., Cartolano, M., Voegele, C., Sexton-Oates, A., Di Genova, A., Ernst, A., Kahlert, Y., Hemstedt, N., Hoppner, S., Mansuet Lupo, A., Pelosi, G., Brcic, L., Papotti, M., George, J., Bosco, G., Quaas, A., Tang, L.H., Robzyk, K., Kadota, K., Roh, M.S., Fanaroff, R.E., Falcon, C.J., Buttner, R., Lantuejoul, S., Rekhtman, N., Rudin, C.M., Travis, W.D., Alcala, N., Fernandez-Cuesta, L., Foll, M., Peifer, M., Thomas, R.K., Fischer, M., and Network, L.N.E.N. (2024). TERT Expression and Clinical Outcome in Pulmonary Carcinoids. Journal of clinical oncology : official journal of the American Society of Clinical Oncology: JCO2302708. 10.1200/JCO.23.02708 https://www.ncbi.nlm.nih.gov/pubmed/39348606.


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:  10.3390/cells13020149 https://www.ncbi.nlm.nih.gov/pubmed/38247840.


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