Publications 2022
Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B.S., Hochscherf, J., Abdullah, U., Honing, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmuller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.N., Savatt, J.M., Rudy, N.L., De Luca, C., Italian Undiagnosed Diseases, N., Paola, F., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nurnberg, P., and Hussain, M.S. (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv 3, 100111 https://www.ncbi.nlm.nih.gov/pubmed/35571680.
Asif, M., Mocanu, I.D., Abdullah, U., Hohne, W., Altmuller, J., Makhdoom, E.U.H., Thiele, H., Baig, S.M., Nurnberg, P., Graul-Neumann, L., and Hussain, M.S. (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. American journal of medical genetics Part A 188, 1251-1258 https://www.ncbi.nlm.nih.gov/pubmed/34913263.
Braun, T., Glass, M., Wahnschaffe, L., Otte, M., Mayer, P., Franitza, M., Altmuller, J., Hallek, M., Huttelmaier, S., Schrader, A., and Herling, M. (2022). Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways. Haematologica 107, 187-200 https://www.ncbi.nlm.nih.gov/pubmed/33543866.
Braun, T., Stachelscheid, J., Bley, N., Oberbeck, S., Otte, M., Muller, T.A., Wahnschaffe, L., Glass, M., Ommer, K., Franitza, M., Gathof, B., Altmuller, J., Hallek, M., Auguin, D., Huttelmaier, S., Schrader, A., and Herling, M. (2022). Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia. Cancer Res 82, 1818-1831 https://www.ncbi.nlm.nih.gov/pubmed/35259248.
Breiderhoff, T., Himmerkus, N., Meoli, L., Fromm, A., Sewerin, S., Kriuchkova, N., Nagel, O., Ladilov, Y., Krug, S.M., Quintanova, C., Stumpp, M., Garbe-Schonberg, D., Westernstroer, U., Merkel, C., Brinkhus, M.A., Altmuller, J., Schweiger, M.R., Muller, D., Mutig, K., Morawski, M., Halbritter, J., Milatz, S., Bleich, M., and Gunzel, D. (2022). Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution. Journal of the American Society of Nephrology : JASN 33, 699-717 https://www.ncbi.nlm.nih.gov/pubmed/35031570.
Brunklaus, A., Feng, T., Brunger, T., Perez-Palma, E., Heyne, H., Matthews, E., Semsarian, C., Symonds, J.D., Zuberi, S.M., Lal, D., and Schorge, S. (2022). Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain https://www.ncbi.nlm.nih.gov/pubmed/35037686.
Brunklaus, A., Perez-Palma, E., Ghanty, I., Xinge, J., 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., Kattan, M.W., Zuberi, S.M., and Lal, D. (2022). Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology 98, e1163-e1174 https://www.ncbi.nlm.nih.gov/pubmed/35074891.
Gehlen, J., Giel, A.S., Kollges, R., Haas, S.L., Zhang, R., Trcka, J., Sungur, A.O., Renziehausen, F., Bornholdt, D., Jung, D., Hoyer, P.D., Nordenskjold, A., Tibboel, D., Vlot, J., Spaander, M.C.W., Smigiel, R., Patkowski, D., Roeleveld, N., van Rooij, I.A., de Blaauw, I., Holscher, A., Pauly, M., Leutner, A., Fuchs, J., Niethammer, J., Melissari, M.T., Jenetzky, E., Zwink, N., Thiele, H., Hilger, A.C., Hess, T., Trautmann, J., Marks, M., Baumgarten, M., Blass, G., Landen, M., Fundin, B., Bulik, C.M., Pennimpede, T., Ludwig, M., Ludwig, K.U., Mangold, E., Heilmann-Heimbach, S., Moebus, S., Herrmann, B.G., Alsabeah, K., Burgos, C.M., Lilja, H.E., Azodi, S., Stenstrom, P., Arnbjornsson, E., Frybova, B., Lebensztejn, D.M., Debek, W., Kolodziejczyk, E., Kozera, K., Kierkus, J., Kalicinski, P., Stefanowicz, M., Socha-Banasiak, A., Kolejwa, M., Piaseczna-Piotrowska, A., Czkwianianc, E., Nothen, M.M., Grote, P., Rygl, M., Reinshagen, K., Spychalski, N., Ludwikowski, B., Hubertus, J., Heydweiller, A., Ure, B., Muensterer, O.J., Aubert, O., Gosemann, J.H., Lacher, M., Degenhardt, P., Boemers, T.M., Mokrowiecka, A., Malecka-Panas, E., Wohr, M., Knapp, M., Seitz, G., de Klein, A., Oracz, G., Brosens, E., Reutter, H., and Schumacher, J. (2022). First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. HGG Adv 3, 100093 https://www.ncbi.nlm.nih.gov/pubmed/35199045.
Gonenc, II, Elcioglu, N.H., Martinez Grijalva, C., Aras, S., Grossmann, N., Praulich, I., Altmuller, J., Kaulfuss, S., Li, Y., Nurnberg, P., Burfeind, P., Yigit, G., and Wollnik, B. (2022). Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. Clin Genet 101, 559-564 https://www.ncbi.nlm.nih.gov/pubmed/35218564.
Hake, L., Sussmuth, K., Komlosi, K., Kopp, J., Drerup, C., Metze, D., Traupe, H., Hausser, I., Eckl, K.M., Hennies, H.C., Fischer, J., and Oji, V. (2022). Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis. Journal of the European Academy of Dermatology and Venereology : JEADV 36, 582-591 https://www.ncbi.nlm.nih.gov/pubmed/34908195.
Hauke, J., Harter, P., Ernst, C., Burges, A., Schmidt, S., Reuss, A., Borde, J., De Gregorio, N., Dietrich, D., El-Balat, A., Kayali, M., Gevensleben, H., Hilpert, F., Altmuller, J., Heimbach, A., Meier, W., Schoemig-Markiefka, B., Thiele, H., Kimmig, R., Nurnberg, P., Kast, K., Richters, L., Sehouli, J., Schmutzler, R.K., and Hahnen, E. (2022). Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883). J Med Genet 59, 248-252 https://www.ncbi.nlm.nih.gov/pubmed/33273034.
Hilgers, L., Roth, O., Nolte, A.W., Schuller, A., Spanke, T., Flury, J.M., Utama, I.V., Altmuller, J., Wowor, D., Misof, B., Herder, F., Bohne, A., and Schwarzer, J. (2022). Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue. Curr Biol 32, 715-724 e714 https://www.ncbi.nlm.nih.gov/pubmed/34932936.
Johannesen, K.M., Iqbal, S., Guazzi, M., Mohammadi, N.A., Perez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M.T., McTague, A., Pons, R., Piton, A., Kurian, M.A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E.H., Verbeek, N.E., van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H.M.H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J.R., Platzer, K., Kennedy, J., Klein, K.M., Au, P.Y.B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M.K., Dinopoulos, A., Campbell, A.J., Lal, D., Lederer, D., Liao, V.W.Y., Ahring, P.K., Moller, R.S., and Gardella, E. (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genetics in medicine : official journal of the American College of Medical Genetics 24, 681-693 https://www.ncbi.nlm.nih.gov/pubmed/34906499.
Kanber, D., Woestefeld, J., Dopper, H., Bozet, M., Brenzel, A., Altmuller, J., Kilpert, F., Lohmann, D., Pommerenke, C., and Steenpass, L. (2022). RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation. Cancers (Basel) 14 https://www.ncbi.nlm.nih.gov/pubmed/35565295.
Leenen, E., Erger, F., Altmuller, J., Wenzel, A., Thiele, H., Harth, A., Tschernoster, N., Lokhande, S., Joerres, A., Becker, J.U., Ekici, A., Huettel, B., Beck, B., and Weidemann, A. (2022). Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association https://www.ncbi.nlm.nih.gov/pubmed/35485766.
Lessel, D., Rading, K., Campbell, S.E., Thiele, H., Altmuller, J., Gordon, L.B., and Kubisch, C. (2022). A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. American journal of medical genetics Part A 188, 216-223 https://www.ncbi.nlm.nih.gov/pubmed/34611991.
Lopez-Rivera, J.A., Smuk, V., Leu, C., Nasr, G., Vegh, D., Stefanski, A., Perez-Palma, E., Busch, R., Jehi, L., Najm, I., Blumcke, I., and Lal, D. (2022). Incidence and prevalence of major epilepsy-associated brain lesions. Epilepsy Behav Rep 18, 100527 https://www.ncbi.nlm.nih.gov/pubmed/35243289.
Marko, H.L., Hornig, N.C., Betz, R.C., Holterhus, P.M., Altmuller, J., Thiele, H., Fabiano, M., Schweikert, H.U., Braun, D., and Schweizer, U. (2022). Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development. Hum Mutat 43, 420-433 https://www.ncbi.nlm.nih.gov/pubmed/34979047.
Moosa, S., Chentli, F., Altmuller, J., Bogershausen, N., Nurnberg, P., Yigit, G., Li, Y., and Wollnik, B. (2022). Genomic basis of syndromic short stature in an Algerian patient cohort. American journal of medical genetics Part A 188, 606-612 https://www.ncbi.nlm.nih.gov/pubmed/34644002.
Neitzel, H., Varon, R., Chughtai, S., Dartsch, J., Dutrannoy-Tonsing, V., Nurnberg, P., Nurnberg, G., Schweiger, M., Digweed, M., Hildebrand, G., Hackmann, K., Holtgrewe, M., Sarioglu, N., Schulze, B., Horn, D., and Sperling, K. (2022). Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4. Hum Genet https://www.ncbi.nlm.nih.gov/pubmed/35536377.
Ou, S., Cesarato, N., Mauran, P., Gelle, M.P., Thiele, H., Betz, R.C., Viguier, M., and Gusdorf, L. (2022). A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Clin Exp Dermatol https://www.ncbi.nlm.nih.gov/pubmed/35574671.
Reusch, B., Bartram, M.P., Dafinger, C., Palacio-Escat, N., Wenzel, A., Fenton, R.A., Saez-Rodriguez, J., Schermer, B., Benzing, T., Altmuller, J., Beck, B.B., and Rinschen, M.M. (2022). MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells. J Proteomics 252, 104424 https://www.ncbi.nlm.nih.gov/pubmed/34775100.
Reuter, M.S., Zech, M., Hempel, M., Altmuller, J., Heung, T., Polsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S.W., Rudnik-Schoneborn, S., Bassett, A.S., and Lessel, D. (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. European journal of human genetics : EJHG 30, 611-618 https://www.ncbi.nlm.nih.gov/pubmed/35304602.
Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S.C., Li, Y., Shboul, M., Tham, P.Y., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O'Connor, B.D., Kegler, M.S., Merriman, B., Nelson, S.F., Masri, A., Alkazaleh, F., Guerra, D., Ferrari, P., Nanda, A., Rajab, A., Markie, D., Gray, M., Nelson, J., Grix, A., Sommer, A., Savarirayan, R., Janecke, A.R., Steichen, E., Sillence, D., Hausser, I., Budde, B., Nurnberg, G., Nurnberg, P., Seemann, P., Kunkel, D., Zambruno, G., Dallapiccola, B., Schuelke, M., Robertson, S., Hamamy, H., Wollnik, B., Van Maldergem, L., Mundlos, S., and Kornak, U. (2022). Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 54, 213 https://www.ncbi.nlm.nih.gov/pubmed/35064218.
Schmidt, J., Schreiber, G., Altmuller, J., Thiele, H., Nurnberg, P., Li, Y., Kaulfuss, S., Funke, R., Wilken, B., Yigit, G., and Wollnik, B. (2022). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. European journal of human genetics : EJHG 30, 211-218 https://www.ncbi.nlm.nih.gov/pubmed/34629465.
Schwarz, N., Seiffert, S., Pendziwiat, M., Rademacher, A.V., Brunger, T., Hedrich, U.B.S., Augustijn, P.B., Baier, H., Bayat, A., Bisulli, F., Buono, R.J., Bruria, B.Z., Doyle, M.G., Guerrini, R., Heimer, G., Iacomino, M., Kearney, H., Klein, K.M., Kousiappa, I., Kunz, W.S., Lerche, H., Licchetta, L., Lohmann, E., Minardi, R., McDonald, M., Montgomery, S., Mulahasanovic, L., Oegema, R., Ortal, B., Papacostas, S.S., Ragona, F., Granata, T., Reif, P.S., Rosenow, F., Rothschild, A., Scudieri, P., Striano, P., Tinuper, P., Tanteles, G.A., Vetro, A., Zahnert, F., Goldberg, E.M., Zara, F., Lal, D., May, P., Muhle, H., Helbig, I., and Weber, Y. (2022). Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. Neurology 98, e2046-e2059 https://www.ncbi.nlm.nih.gov/pubmed/35314505.
Stefanski, A., Perez-Palma, E., Mrdjen, M., McHugh, M., Leu, C., and Lal, D. (2022). Identification and quantification of oligogenic loss-of-function disorders. Genetics in medicine : official journal of the American College of Medical Genetics 24, 729-735 https://www.ncbi.nlm.nih.gov/pubmed/34906500.
Tschernoster, N., Erger, F., Walsh, P.R., McNicholas, B., Fistrek, M., Habbig, S., Schumacher, L., Folz-Donahue, K., Kukat, C., Toliat, M.R., Becker, C., Thiele, H., Kavanagh, D., Nurnberg, P., Beck, B., and Altmuller, J. (2022). None Fits All: Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J Mol Diagn https://www.ncbi.nlm.nih.gov/pubmed/35398599.
Wallmeroth, D., Lackmann, J.W., Kueckelmann, S., Altmuller, J., Dieterich, C., Boehm, V., and Gehring, N.H. (2022). Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay. EMBO J 41, e109191 https://www.ncbi.nlm.nih.gov/pubmed/35451084.