Publications 2020
Adesoji, O., and Nothnagel, M. (2020). A Simulation Study to Evaluate Existing Pleiotropy Detection Methods. Human Heredity 84, 204-204.
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hochscherf, J., Lindenblatt, D., Noegel, A.A., Tinschert, S., Niefind, K., Fortugno, P., Jose, J., Brancati, F., Nurnberg, P., and Hussain, M.S. (2020). De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome. European Journal of Human Genetics 28, 129-130.
Bae-Gartz, I., Kasper, P., Grossmann, N., Breuer, S., Janoschek, R., Kretschmer, T., Appel, S., Schmitz, L., Vohlen, C., Quaas, A., Schweiger, M. R., Grimm, C., Fischer, A., Ferrari, N., Graf, C., Frese, C. K., Lang, S., Demir, M., Schramm, C., Fink, G., Goeser, T., Dotsch, J. and Hucklenbruch-Rother, E. (2020). "Maternal exercise conveys protection against NAFLD in the offspring via hepatic metabolic programming." Sci Rep 10(1): 15424 https://www.ncbi.nlm.nih.gov/pubmed/32963289.
Balogh, E., Chandler, J. C., Varga, M., Tahoun, M., Menyhard, D. K., Schay, G., Goncalves, T., Hamar, R., Legradi, R., Szekeres, A., Gribouval, O., Kleta, R., Stanescu, H., Bockenhauer, D., Kerti, A., Williams, H., Kinsler, V., Di, W. L., Curtis, D., Kolatsi-Joannou, M., Hammid, H., Szocs, A., Perczel, K., Maka, E., Toldi, G., Sava, F., Arrondel, C., Kardos, M., Fintha, A., Hossain, A., D'Arco, F., Kaliakatsos, M., Koeglmeier, J., Mifsud, W., Moosajee, M., Faro, A., Javorszky, E., Rudas, G., Saied, M. H., Marzouk, S., Kelen, K., Gotze, J., Reusz, G., Tulassay, T., Dragon, F., Mollet, G., Motameny, S., Thiele, H., Dorval, G., Nurnberg, P., Perczel, A., Szabo, A. J., Long, D. A., Tomita, K., Antignac, C., Waters, A. M. and Tory, K. (2020). "Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis." Proc Natl Acad Sci U S A 117(26): 15137-15147 http://www.ncbi.nlm.nih.gov/pubmed/32554502.
Bamborschke, D., Daimaguler, H. S., Hahn, A., Hussain, M. S., Nurnberg, P. and Cirak, S. (2020). "Mutation in CEP135 causing primary microcephaly and subcortical heterotopia." Am J Med Genet A http://www.ncbi.nlm.nih.gov/pubmed/32643282.
Becker, T., Pich, A., Tamm, S., Hedtfeld, S., Ibrahim, M., Altmuller, J., Dalibor, N., Toliat, M. R., Janciauskiene, S., Tummler, B. and Stanke, F. (2020). "Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B." Sci Rep 10(1): 22447 https://www.ncbi.nlm.nih.gov/pubmed/33384439.
Boedicker, C., Hussong, M., Grimm, C., Dolgikh, N., Meister, M. T., Enssle, J. C., Wanior, M., Knapp, S., Schweiger, M. R. and Fulda, S. (2020). "Co-inhibition of BET proteins and PI3Kalpha triggers mitochondrial apoptosis in rhabdomyosarcoma cells." Oncogene 39(19): 3837-3852 https://www.ncbi.nlm.nih.gov/pubmed/32161312.
Brunklaus, A., Leu, C., Gramm, M., Perez-Palma, E., Iqbal, S. and Lal, D. (2020). "Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies." Eur J Paediatr Neurol 24: 35-39 https://www.ncbi.nlm.nih.gov/pubmed/31924506.
Brunklaus, A., Schorge, S., Smith, A. D., Ghanty, I., Stewart, K., Gardiner, S., Du, J., Perez-Palma, E., Symonds, J. D., Collier, A. C., Lal, D. and Zuberi, S. M. (2020). "SCN1A variants from bench to bedside-improved clinical prediction from functional characterization." Hum Mutat 41(2): 363-374 https://www.ncbi.nlm.nih.gov/pubmed/31782251.
Budde, B. S., Aly, M. A., Mohamed, M. R., Bress, A., Altmuller, J., Motameny, S., Kawalia, A., Thiele, H., Konrad, K., Becker, C., Toliat, M. R., Nurnberg, G., Sayed, E. A. F., Mohamed, E. S., Pfister, M. and Nurnberg, P. (2020). "Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss." Clin Genet 98(1): 32-42 http://www.ncbi.nlm.nih.gov/pubmed/32279305.
Caliebe, A. and Nothnagel, M. (2020). "Special issue on 'Genetic epidemiology of complex diseases: impact of population history and modelling assumptions'." Hum Genet 139(1): 1-3 https://www.ncbi.nlm.nih.gov/pubmed/31664516.
Ding, C., Scicluna, B. P., Stroo, I., Yang, J., Roelofs, J. J., de Boer, O. J., de Vos, A. F., Nurnberg, P., Revenko, A. S., Crosby, J., Van't Veer, C. and van der Poll, T. (2020). "Prekallikrein inhibits innate immune signaling in the lung and impairs host defense during pneumosepsis in mice." J Pathol 250(1): 95-106 http://www.ncbi.nlm.nih.gov/pubmed/31595971.
Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmuller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coeslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. and Bhoj, E. (2020). "A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome." Eur J Hum Genet 28(10): 1422-1431 https://www.ncbi.nlm.nih.gov/pubmed/32483341.
Erger, F., Norling, D., Borchert, D., Leenen, E., Habbig, S., Wiesener, M. S., Bartram, M. P., Wenzel, A., Becker, C., Toliat, M. R., Nurnberg, P., Beck, B. B. and Altmuller, J. (2020). "cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA." Genome Med 12(1): 54 http://www.ncbi.nlm.nih.gov/pubmed/32580754.
Farooq, M., Lindbaek, L., Krogh, N., Doganli, C., Keller, C., Monnich, M., Goncalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Mollgard, K., Nielsen, H., Baig, S. M., Tommerup, N., Christensen, S. T. and Larsen, L. A. (2020). "RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis." Nat Commun 11(1): 5816 https://www.ncbi.nlm.nih.gov/pubmed/33199730.
Forstner, A. J., Fischer, S. B., Schenk, L. M., Strohmaier, J., Maaser-Hecker, A., Reinbold, C. S., Sivalingam, S., Hecker, J., Streit, F., Degenhardt, F., Witt, S. H., Schumacher, J., Thiele, H., Nurnberg, P., Guzman-Parra, J., Orozco Diaz, G., Auburger, G., Albus, M., Borrmann-Hassenbach, M., Gonzalez, M. J., Gil Flores, S., Cabaleiro Fabeiro, F. J., Del Rio Noriega, F., Perez Perez, F., Haro Gonzalez, J., Rivas, F., Mayoral, F., Bauer, M., Pfennig, A., Reif, A., Herms, S., Hoffmann, P., Pirooznia, M., Goes, F. S., Rietschel, M., Nothen, M. M. and Cichon, S. (2020). "Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families." Transl Psychiatry 10(1): 57 http://www.ncbi.nlm.nih.gov/pubmed/32066727.
Frye, B., Gaede, K.I., Saltini, C., Rossman, M.D., Monos, D.S., Rosenman, K.D., Schuler, C.R., Weston, A., Wegner, R., Noth, R., Zissel, G., Schreiber, S., Nothnagel, M., and Muller-Quernheim, J. (2020). Analysis of Single Nucleotide Polymorphisms in Sarcoidosis and Chronic Beryllium Disease. American Journal of Respiratory and Critical Care Medicine 201 https://pubmed.ncbi.nlm.nih.gov/33863318/.
Ganapathi, M., Argyriou, L., Martinez-Azorin, F., Morlot, S., Yigit, G., Lee, T. M., Auber, B., von Gise, A., Petrey, D. S., Thiele, H., Cyganek, L., Sabater-Molina, M., Ahimaz, P., Cabezas-Herrera, J., Sorli-Garcia, M., Zibat, A., Siegelin, M. D., Burfeind, P., Buchovecky, C. M., Hasenfuss, G., Honig, B., Li, Y., Iglesias, A. D. and Wollnik, B. (2020). "Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis." Hum Genet 139(11): 1443-1454 https://www.ncbi.nlm.nih.gov/pubmed/32514796.
Gerbracht, J. V., Boehm, V., Britto-Borges, T., Kallabis, S., Wiederstein, J. L., Ciriello, S., Aschemeier, D. U., Kruger, M., Frese, C. K., Altmuller, J., Dieterich, C. and Gehring, N. H. (2020). "CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex." Nucleic Acids Res 48(15): 8626-8644 https://www.ncbi.nlm.nih.gov/pubmed/32621609.
Gopel, W., Muller, M., Rabe, H., Borgmann, J., Rausch, T. K., Faust, K., Kribs, A., Dotsch, J., Ellinghaus, D., Hartel, C., Roll, C., Szabo, M., Nurnberg, P., Franke, A., Konig, I. R., Turner, M. A. and Herting, E. (2020). "Genetic background of high blood pressure is associated with reduced mortality in premature neonates." Arch Dis Child Fetal Neonatal Ed 105(2): 184-189 http://www.ncbi.nlm.nih.gov/pubmed/31201254.
Goulielmaki, E., Ioannidou, A., Tsekrekou, M., Stratigi, K., Poutakidou, I. K., Gkirtzimanaki, K., Aivaliotis, M., Evangelou, K., Topalis, P., Altmuller, J., Gorgoulis, V. G., Chatzinikolaou, G. and Garinis, G. A. (2020). "Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage." Nat Commun 11(1): 42 https://www.ncbi.nlm.nih.gov/pubmed/31896748.
Gramm, M., Leu, C., Perez-Palma, E., Ferguson, L., Jehi, L., Daly, M. J., Najm, I. M., Busch, R. M. and Lal, D. (2020). "Polygenic risk heterogeneity among focal epilepsies." Epilepsia 61(11): e179-e185 https://www.ncbi.nlm.nih.gov/pubmed/33090489.
Hackl, A., Erger, F., Skerka, C., Wenzel, A., Tschernoster, N., Ehren, R., Burgmaier, K., Riehmer, V., Licht, C., Kirschfink, M., Weber, L. T., Altmueller, J., Zipfel, P. F. and Habbig, S. (2020). "Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies." Clinical Nephrology 94(4): 197-206 https://www.ncbi.nlm.nih.gov/pubmed/32870147.
Hanses, U., Kleinsorge, M., Roos, L., Yigit, G., Li, Y., Barbarics, B., El-Battrawy, I., Lan, H., Tiburcy, M., Hindmarsh, R., Lenz, C., Salinas, G., Diecke, S., Muller, C., Adham, I., Altmuller, J., Nurnberg, P., Paul, T., Zimmermann, W. H., Hasenfuss, G., Wollnik, B. and Cyganek, L. (2020). "Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy." Circulation http://www.ncbi.nlm.nih.gov/pubmed/32623905.
Hashmi, J. A., Fadhli, F., Almatrafi, A., Afzal, S., Ramzan, K., Thiele, H., Nurnberg, P. and Basit, S. (2020). "Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family." Brain Dev 42(8): 587-593 http://www.ncbi.nlm.nih.gov/pubmed/32402540.
Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Epi, C., Johannesen, K. M., Lauxmann, S., Lemke, J. R., Moller, R. S., Perez-Palma, E., Scholl, U. I., Syrbe, S., Lerche, H., Lal, D., Campbell, A. J., Wang, H. R., Pan, J. and Daly, M. J. (2020). "Predicting functional effects of missense variants in voltage-gated sodium and calcium channels." Sci Transl Med 12(556) https://www.ncbi.nlm.nih.gov/pubmed/32801145.
Hoelzel, S., Ishorst, N., Greve, C., Degenhardt, F., Drichel, D., Maj, C., Nothnagel, M., Hehir-Kwa, J.Y., Veltman, J.A., Kruse, T., Reutter, H., Nowak, S., Carels, C., van Rooij, I., Ludwig, K.U., and Mangold, E. (2020). Nonsyndromic orofacial clefts - Identifying putative causative genes by CNV analysis of whole exome sequencing data. European Journal of Human Genetics 28, 839-839.
Hollenhorst, M. I., Jurastow, I., Nandigama, R., Appenzeller, S., Li, L., Vogel, J., Wiederhold, S., Althaus, M., Empting, M., Altmuller, J., Hirsch, A. K. H., Flockerzi, V., Canning, B. J., Saliba, A. E. and Krasteva-Christ, G. (2020). "Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling." Faseb Journal 34(1): 316-332 https://www.ncbi.nlm.nih.gov/pubmed/31914675.
Ilyas, S., Ullah, N. K., Ilyas, M., Wennhold, K., Iqbal, M., Schlosser, H. A., Hussain, M. S. and Mathur, S. (2020). "Mediating the Fate of Cancer Cell Uptake: Dual-Targeted Magnetic Nanovectors with Biotin and Folate Surface Ligands." ACS Biomater Sci Eng 6(11): 6138-6147 https://www.ncbi.nlm.nih.gov/pubmed/33449668.
Iqbal, M., Baig, S.M., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Khan, S., Jameel, M., Noegel, A.A., Nurnberg, P., Osmond, M., and Hussain, M.S. (2020). Mutations of PCDHGC4 encoding protocadherin gamma-C4 cause primary microcephaly and intellectual disability. European Journal of Human Genetics 28, 399-400.
Jiang, H., Gallet, S., Klemm, P., Scholl, P., Folz-Donahue, K., Altmuller, J., Alber, J., Heilinger, C., Kukat, C., Loyens, A., Muller-Fielitz, H., Sundaram, S., Schwaninger, M., Prevot, V. and Bruning, J. C. (2020). "MCH Neurons Regulate Permeability of the Median Eminence Barrier." Neuron 107(2): 306-319 e309 https://www.ncbi.nlm.nih.gov/pubmed/32407670.
Johnsen, M., Kubacki, T., Yeroslaviz, A., Spath, M. R., Morsdorf, J., Gobel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmuller, J., Beyer, A., Benzing, T., Schermer, B., Burst, V. and Muller, R. U. (2020). "The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury." J Am Soc Nephrol 31(4): 716-730 https://www.ncbi.nlm.nih.gov/pubmed/32111728.
Kanoungi, G., Nothnagel, M., Becker, T. and Drichel, D. (2020). "The exhaustive genomic scan approach, with an application to rare-variant association analysis." Eur J Hum Genet 28(9): 1283-1291 https://www.ncbi.nlm.nih.gov/pubmed/32415273.
Karsak, M., Glebov, K., Scheffold, M., Bajaj, T., Kawalia, A., Karaca, I., Rading, S., Kornhuber, J., Peters, O., Diez-Fairen, M., Frolich, L., Hull, M., Wiltfang, J., Scherer, M., Riedel-Heller, S., Schneider, A., Heneka, M. T., Fliessbach, K., Sharaf, A., Thiele, H., Lennarz, M., Jessen, F., Maier, W., Kubisch, C., Ignatova, Z., Nurnberg, P., Pastor, P., Walter, J. and Ramirez, A. (2020). "A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2." Hum Mutat 41(1): 169-181 http://www.ncbi.nlm.nih.gov/pubmed/31464095.
Katsara, M.A., Nothnagel, M., Branicki, W., Pospiech, E., Kayser, M., Walsh, S., and Hysi, P. (2020). Incorporating and Validating the Impact of Priors on DNA Prediction of External Visible Characteristics. Human Heredity 84, 212-212.
Koch, C., Kuske, A., Joosse, S. A., Yigit, G., Sflomos, G., Thaler, S., Smit, D. J., Werner, S., Borgmann, K., Gartner, S., Mossahebi Mohammadi, P., Battista, L., Cayrefourcq, L., Altmuller, J., Salinas-Riester, G., Raithatha, K., Zibat, A., Goy, Y., Ott, L., Bartkowiak, K., Tan, T. Z., Zhou, Q., Speicher, M. R., Muller, V., Gorges, T. M., Jucker, M., Thiery, J. P., Brisken, C., Riethdorf, S., Alix-Panabieres, C. and Pantel, K. (2020). "Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity." EMBO Mol Med 12(9): e11908 https://www.ncbi.nlm.nih.gov/pubmed/32667137.
Kramer, M., Plum, P. S., Velazquez Camacho, O., Folz-Donahue, K., Thelen, M., Garcia-Marquez, I., Wolwer, C., Busker, S., Wittig, J., Franitza, M., Altmuller, J., Loser, H., Schlosser, H., Buttner, R., Schroder, W., Bruns, C. J., Alakus, H., Quaas, A., Chon, S. H. and Hillmer, A. M. (2020). "Cell type-specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics." Mol Oncol 14(6): 1170-1184 https://www.ncbi.nlm.nih.gov/pubmed/32255255.
Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Koeleman, B. P. C., Helbig, K. L., Weber, Y. G., Helbig, I., Majithia, A. R., Palotie, A. and Daly, M. J. (2020). "Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders." Genome Med 12(1): 28 http://www.ncbi.nlm.nih.gov/pubmed/32183904.
Lessel, I., Chen, M. J., Luttgen, S., Arndt, F., Fuchs, S., Meien, S., Thiele, H., Jones, J. R., Shaw, B. R., Crossman, D. K., Nurnberg, P., Korf, B. R., Kubisch, C. and Lessel, D. (2020). "Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies." Hum Genet 139(4): 483-498 http://www.ncbi.nlm.nih.gov/pubmed/32055997.
Leu, C., Bautista, J. F., Sudarsanam, M., Niestroj, L. M., Stefanski, A., Ferguson, L., Daly, M. J., Jehi, L., Najm, I. M., Busch, R. M. and Lal, D. (2020). "Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures." Sci Rep 10(1): 15205 https://www.ncbi.nlm.nih.gov/pubmed/32938993.
Liao, D. S., Grossi, F. V., El Mehdi, D., Gerber, M. R., Brown, D. M., Heier, J. S., Wykoff, C. C., Singerman, L. J., Abraham, P., Grassmann, F., Nuernberg, P., Weber, B. H. F., Deschatelets, P., Kim, R. Y., Chung, C. Y., Ribeiro, R. M., Hamdani, M., Rosenfeld, P. J., Boyer, D. S., Slakter, J. S. and Francois, C. G. (2020). "Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial." Ophthalmology 127(2): 186-195 https://www.ncbi.nlm.nih.gov/pubmed/31474439.
Malki, L., Sarig, O., Cesarato, N., Mohamad, J., Canter, T., Assaf, S., Pavlovsky, M., Vodo, D., Anis, Y., Bihari, O., Malovitski, K., Gat, A., Thiele, H., White, B. E. P., Samuelov, L., Nanda, A., Paller, A. S., Betz, R. C. and Sprecher, E. (2020). "Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis." Genet Med 22(7): 1227-1234 https://www.ncbi.nlm.nih.gov/pubmed/32336749.
Moinzadeh, P., Frommolt, P., Franitza, M., Toliat, M. R., Becker, K., Nurnberg, P., Nihtyanova, S. I., Ahrazoglu, M., Belz, D., Hunzelmann, N., Abraham, D., Ong, V. H., Mouthon, L., Hesselstrand, R., Denton, C. P. and Krieg, T. (2020). "Whole blood gene expression profiling distinguishes systemic sclerosis-overlap syndromes from other subsets." J Eur Acad Dermatol Venereol 34(5): e236-e238 http://www.ncbi.nlm.nih.gov/pubmed/31945216.
Montesinos-Rongen, M., Brunn, A., Tuchscherer, A., Borchmann, P., Schorb, E., Kasenda, B., Altmuller, J., Illerhaus, G., Ruge, M. I., Maarouf, M., Buttner, R., Hansmann, M. L., Hallek, M., Prinz, M., Siebert, R. and Deckert, M. (2020). "Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy." Journal of Molecular Diagnostics 22(10): 1300-1307 https://www.ncbi.nlm.nih.gov/pubmed/32745612.
Munoz-Lopez, A., Buchmuller, B., Wolffgramm, J., Jung, A., Hussong, M., Kanne, J., Schweiger, M. R. and Summerer, D. (2020). "Designer Receptors for Nucleotide-Resolution Analysis of Genomic 5-Methylcytosine by Cellular Imaging." Angew Chem Int Ed Engl 59(23): 8927-8931 https://www.ncbi.nlm.nih.gov/pubmed/32167219.
Moosa, S., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., de Menezes, H.C., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmuller, J., Nurnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B., and Netzer, C. (2020). Severe Osteogenesis imperfecta with oligodontia: think of MESD. European Journal of Human Genetics 28, 248-249.
Nattramilarasu, P. K., Bucker, R., Lobo de Sa, F. D., Fromm, A., Nagel, O., Lee, I. M., Butkevych, E., Mousavi, S., Genger, C., Klove, S., Heimesaat, M. M., Bereswill, S., Schweiger, M. R., Nielsen, H. L., Troeger, H. and Schulzke, J. D. (2020). "Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption." Int J Mol Sci 21(2) https://www.ncbi.nlm.nih.gov/pubmed/31936044.
Neuhofer, C. M., Funke, R., Wilken, B., Knaus, A., Altmuller, J., Nurnberg, P., Li, Y., Wollnik, B., Burfeind, P. and Pauli, S. (2020). "A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia." Mol Syndromol 11(1): 30-37 http://www.ncbi.nlm.nih.gov/pubmed/32256299.
Niestroj, L. M., Perez-Palma, E., Howrigan, D. P., Zhou, Y., Cheng, F., Saarentaus, E., Nurnberg, P., Stevelink, R., Daly, M. J., Palotie, A. and Lal, D. (2020). "Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects." Brain 143(7): 2106-2118 http://www.ncbi.nlm.nih.gov/pubmed/32568404.
Nothnagel, M. (2020). "Towards a fine-scale picture of European genetic diversity." Eur J Hum Genet 28(7): 851-852 https://www.ncbi.nlm.nih.gov/pubmed/32238910.
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