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Publications 2022

Adebayo, O.C., Betukumesu, D.K., Nkoy, A.B., Adesoji, O.M., Ekulu, P.M., Van den Heuvel, L.P., Levtchenko, E.N., and Labarque, V. (2022). Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia. Br J Haematol 196, 204-214. https://www.ncbi.nlm.nih.gov/pubmed/34545573.


Adesoji, O.M., Schulz, H., May, P., Krause, R., Lerche, H., and Nothnagel, M. (2022). Benchmarking of univariate pleiotropy detection methods, with an application to epilepsy. Human Heredity VOL., 4-4.


Adesoji, O.M., Schulz, H., May, P., Krause, R., Lerche, H., Nothnagel, M., and Epilepsies, I.C.C. (2022). Benchmarking of Univariate Pleiotropy detection Methods, with an Application to Epilepsy Phenotypes. Genetic Epidemiology 46, 476-476. <Go to ISI>://WOS:000850044000013.


Adesoji, O.M., Schulz, H., May, P., Krause, R., Lerche, H., Nothnagel, M., and Epilepsies, I.C.o.C. (2022). Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Hum Mutat 43, 1314-1332. https://www.ncbi.nlm.nih.gov/pubmed/35620985.


Andreotti, S., Altmuller, J., Quedenau, C., Borodina, T., Nouailles, G., Teixeira Alves, L.G., Landthaler, M., Bieniara, M., Trimpert, J., and Wyler, E. (2022). De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster (Phodopus roborovskii) Genome: An Animal Model for Severe/Critical COVID-19. Genome Biol Evol 14. https://www.ncbi.nlm.nih.gov/pubmed/35778793.
Aryal, R.P., Erger, F., Reusch, B., Matsumoto, Y., Meyer, R., Zeng, J.W., Knopp, C., Noel, M., Wenzel, A., Kohl, S., Tschernoster, N., Rappl, G., Schroder-Braunstein, J., Seibert, F., Thiele, H., Hausler, M., Weber, L., Buttner-Herold, M., Elbracht, M., Cummings, S., Altmuller, J., Habbig, S., Beck, B., and Cummings, R. (2022). Novel Heritable Human COSMC Mutation Results in a Multisystemic Chaperonopathy. Glycobiology 32, 1031-1031. <Go to ISI>://WOS:000878249700153.


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., Khayyat, A.I.A., Alawbathani, S., Haasters, J., Budde, B., Nurnberg, P., Wagner, M., and Hussain, M.S. (2022). Biallelic frameshift variants in CYHR1 cause severe global developmental delay. European Journal of Human Genetics 30, 279-280. <Go to ISI>://WOS:000779367701195.


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.


Baez-Nieto, D., Allen, A., Akers-Campbell, S., Yang, L., Budnik, N., Pupo, A., Shin, Y.C., Genovese, G., Liao, M., Perez-Palma, E., Heyne, H., Lal, D., Lipscombe, D., and Pan, J.Q. (2022). Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain 145, 1839-1853. https://www.ncbi.nlm.nih.gov/pubmed/34919654.


Basmanav, F.B., Cesarato, N., Kumar, S., Borisov, O., Kokordelis, P., Ralser, D.J., Wehner, M., Axt, D., Xiong, X., Thiele, H., Dolgin, V., Gossmann, Y., Fricker, N., Dewenter, M.K., Weller, K., Suri, M., Reichenbach, H., Oji, V., Addor, M.C., Ramirez, K., Stewart, H., Garcia Bartels, N., Weibel, L., Wagner, N., George, S., Kilic, A., Tantcheva-Poor, I., Stewart, A., Dikow, N., Blaumeiser, B., Medvecz, M., Blume-Peytavi, U., Farrant, P., Grimalt, R., Bertok, S., Bradley, L., Eskin-Schwartz, M., Birk, O.S., Bygum, A., Simon, M., Krawitz, P., Fischer, C., Hamm, H., Fritz, G., and Betz, R.C. (2022). Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatol 158, 1245-1253. https://www.ncbi.nlm.nih.gov/pubmed/36044230.


Blume, F., Kirsten, H., Ahnert, P., Chakraborty, T., Gross, A., Horn, K., Toliat, M.R., Nurnberg, P., Westenfelder, E.M., Goepel, W., and Scholz, M. (2022). Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. Pediatr Res 92, 190-198. https://www.ncbi.nlm.nih.gov/pubmed/34465876.


Bogershausen, N., Krawczyk, H.E., Jamra, R.A., Lin, S.J., Yigit, G., Huning, I., Polo, A.M., Vona, B., Huang, K., Schmidt, J., Altmuller, J., Luppe, J., Platzer, K., Dorgeloh, B.B., Busche, A., Biskup, S., Mendes, M.I., Smith, D.E.C., Salomons, G.S., Zibat, A., Bultmann, E., Nurnberg, P., Spielmann, M., Lemke, J.R., Li, Y., Zenker, M., Varshney, G.K., Hillen, H.S., Kratz, C.P., and Wollnik, B. (2022). WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Hum Mutat 43, 1454-1471. https://www.ncbi.nlm.nih.gov/pubmed/35790048.


Boileau, E., Li, X., Naarmann-de Vries, I.S., Becker, C., Casper, R., Altmuller, J., Leuschner, F., and Dieterich, C. (2022). Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI. Frontiers in genetics 13, 912572. https://www.ncbi.nlm.nih.gov/pubmed/35937994.


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.


Brunklaus, A., Brunger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M.A., Symonds, J., Andrews, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nunez-Enamorado, N., Perez-Palma, E., Perry, M.S., Pysden, K., Russ-Hall, S.J., Scheffer, I.E., Sully, K., Syrbe, S., Vaher, U., Velayutham, M., Vogt, J., Weiss, S., Wirrell, E., Zuberi, S.M., Lal, D., Moller, R.S., Mantegazza, M., and Cestele, S. (2022). Gain-of-function SCN1A variants cause spectrum of early onset epileptic encephalopathies that respond to sodium channel blocking therapies. Epilepsia 63, 32-32. <Go to ISI>://WOS:000854255900056.


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 145, 4275-4286. 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.


Butler-Laporte, G., Povysil, G., Kosmicki, J.A., Cirulli, E.T., Drivas, T., Furini, S., Saad, C., Schmidt, A., Olszewski, P., Korotko, U., Quinodoz, M., Celik, E., Kundu, K., Walter, K., Jung, J., Stockwell, A.D., Sloofman, L.G., Jordan, D.M., Thompson, R.C., Del Valle, D., Simons, N., Cheng, E., Sebra, R., Schadt, E.E., Kim-Schulze, S., Gnjatic, S., Merad, M., Buxbaum, J.D., Beckmann, N.D., Charney, A.W., Przychodzen, B., Chang, T., Pottinger, T.D., Shang, N., Brand, F., Fava, F., Mari, F., Chwialkowska, K., Niemira, M., Pula, S., Baillie, J.K., Stuckey, A., Salas, A., Bello, X., Pardo-Seco, J., Gomez-Carballa, A., Rivero-Calle, I., Martinon-Torres, F., Ganna, A., Karczewski, K.J., Veerapen, K., Bourgey, M., Bourque, G., Eveleigh, R.J., Forgetta, V., Morrison, D., Langlais, D., Lathrop, M., Mooser, V., Nakanishi, T., Frithiof, R., Hultstrom, M., Lipcsey, M., Marincevic-Zuniga, Y., Nordlund, J., Schiabor Barrett, K.M., Lee, W., Bolze, A., White, S., Riffle, S., Tanudjaja, F., Sandoval, E., Neveux, I., Dabe, S., Casadei, N., Motameny, S., Alaamery, M., Massadeh, S., Aljawini, N., Almutairi, M.S., Arabi, Y.M., Alqahtani, S.A., Al Harthi, F.S., Almutairi, A., Alqubaishi, F., Alotaibi, S., Binowayn, A., Alsolm, E.A., El Bardisy, H., Fawzy, M., Cai, F., Soranzo, N., Butterworth, A., Initiative, C.-H.G., De, C.O.I.H.G.G., Study, G.-C.M., Mount Sinai Clinical Intelligence, C., consortium, G.-C., Gen, O.C., Japan, C.-T.F., Regeneron Genetics, C., Geschwind, D.H., Arteaga, S., Stephens, A., Butte, M.J., Boutros, P.C., Yamaguchi, T.N., Tao, S., Eng, S., Sanders, T., Tung, P.J., Broudy, M.E., Pan, Y., Gonzalez, A., Chavan, N., Johnson, R., Pasaniuc, B., Yaspan, B., Smieszek, S., Rivolta, C., Bibert, S., Bochud, P.Y., Dabrowski, M., Zawadzki, P., Sypniewski, M., Kaja, E., Chariyavilaskul, P., Nilaratanakul, V., Hirankarn, N., Shotelersuk, V., Pongpanich, M., Phokaew, C., Chetruengchai, W., Tokunaga, K., Sugiyama, M., Kawai, Y., Hasegawa, T., Naito, T., Namkoong, H., Edahiro, R., Kimura, A., Ogawa, S., Kanai, T., Fukunaga, K., Okada, Y., Imoto, S., Miyano, S., Mangul, S., Abedalthagafi, M.S., Zeberg, H., Grzymski, J.J., Washington, N.L., Ossowski, S., Ludwig, K.U., Schulte, E.C., Riess, O., Moniuszko, M., Kwasniewski, M., Mbarek, H., Ismail, S.I., Verma, A., Goldstein, D.B., Kiryluk, K., Renieri, A., Ferreira, M.A.R., and Richards, J.B. (2022). Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genet 18, e1010367. https://www.ncbi.nlm.nih.gov/pubmed/36327219.


Campbell, C., Leu, C., Feng, Y.A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., Benson, K., Molloy, A., Brody, L., Epi, K.C., Genomics England Research, C., Michaud, J.L., Hamdan, F.F., Minassian, B.A., Lerche, H., Scheffer, I.E., Sisodiya, S., Girard, S., Cosette, P., Delanty, N., Lal, D., Cavalleri, G.L., and Epi, C. (2022). The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine 81, 104098. https://www.ncbi.nlm.nih.gov/pubmed/35679801.


Campbell, C., Leu, C., Feng, Y.A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., Benson, K., Molloy, A., Brody, L., Epi, K.C., Genomics England Research, C., Michaud, J.L., Hamdan, F.F., Minassian, B.A., Lerche, H., Scheffer, I.E., Sisodiya, S., Girard, S., Cosette, P., Delanty, N., Lal, D., Cavalleri, G.L., and Epi, C. (2022). The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine 81, 104098. https://www.ncbi.nlm.nih.gov/pubmed/35679801.


Collins, R.L., Glessner, J.T., Porcu, E., Lepamets, M., Brandon, R., Lauricella, C., Han, L., Morley, T., Niestroj, L.M., Ulirsch, J., Everett, S., Howrigan, D.P., Boone, P.M., Fu, J., Karczewski, K.J., Kellaris, G., Lowther, C., Lucente, D., Mohajeri, K., Noukas, M., Nuttle, X., Samocha, K.E., Trinh, M., Ullah, F., Vosa, U., Epi, C., Estonian Biobank Research, T., Hurles, M.E., Aradhya, S., Davis, E.E., Finucane, H., Gusella, J.F., Janze, A., Katsanis, N., Matyakhina, L., Neale, B.M., Sanders, D., Warren, S., Hodge, J.C., Lal, D., Ruderfer, D.M., Meck, J., Magi, R., Esko, T., Reymond, A., Kutalik, Z., Hakonarson, H., Sunyaev, S., Brand, H., and Talkowski, M.E. (2022). A cross-disorder dosage sensitivity map of the human genome. Cell 185, 3041-3055 e3025. https://www.ncbi.nlm.nih.gov/pubmed/35917817.


Conrad, T., and Altmuller, J. (2022). Single cell- and spatial 'Omics revolutionize physiology. Acta Physiol (Oxf) 235, e13848. https://www.ncbi.nlm.nih.gov/pubmed/35656634.


Cunha, D.L., Oram, A., Gruber, R., Plank, R., Lingenhel, A., Gupta, M.K., Altmuller, J., Nurnberg, P., Moosajee, M., Schmuth, M., Zschocke, J., Saric, T., Eckl, K.M., and Hennies, H.C. (2022). hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers. European Journal of Human Genetics 30, 159-159. <Go to ISI>://WOS:000779367700418.


De Vore, L., Gerhart, T., Abdelwahed, Y., Stapmanns, P., Wolfram, C., Becker, K., Franitz, M., Georgomanolis, T., Landmesser, U., Leistner, D., and Winkels, H. (2022). Investigations in plaque erosion and ruptured in acute coronary syndromes via novel methods in multimodal and VDJ sequencing. European Heart Journal 43, 3005-3005.
Degenhardt, F., Ellinghaus, D., Juzenas, S., Lerga-Jaso, J., Wendorff, M., Maya-Miles, D., Uellendahl-Werth, F., ElAbd, H., Ruhlemann, M.C., Arora, J., Ozer, O., Lenning, O.B., Myhre, R., Vadla, M.S., Wacker, E.M., Wienbrandt, L., Blandino Ortiz, A., de Salazar, A., Garrido Chercoles, A., Palom, A., Ruiz, A., Garcia-Fernandez, A.E., Blanco-Grau, A., Mantovani, A., Zanella, A., Holten, A.R., Mayer, A., Bandera, A., Cherubini, A., Protti, A., Aghemo, A., Gerussi, A., Ramirez, A., Braun, A., Nebel, A., Barreira, A., Lleo, A., Teles, A., Kildal, A.B., Biondi, A., Caballero-Garralda, A., Ganna, A., Gori, A., Gluck, A., Lind, A., Tanck, A., Hinney, A., Carreras Nolla, A., Fracanzani, A.L., Peschuck, A., Cavallero, A., Dyrhol-Riise, A.M., Ruello, A., Julia, A., Muscatello, A., Pesenti, A., Voza, A., Rando-Segura, A., Solier, A., Schmidt, A., Cortes, B., Mateos, B., Nafria-Jimenez, B., Schaefer, B., Jensen, B., Bellinghausen, C., Maj, C., Ferrando, C., de la Horra, C., Quereda, C., Skurk, C., Thibeault, C., Scollo, C., Herr, C., Spinner, C.D., Gassner, C., Lange, C., Hu, C., Paccapelo, C., Lehmann, C., Angelini, C., Cappadona, C., Azuure, C., Covicat study group, A.S., Bianco, C., Cea, C., Sancho, C., Hoff, D.A.L., Galimberti, D., Prati, D., Haschka, D., Jimenez, D., Pestana, D., Toapanta, D., Muniz-Diaz, E., Azzolini, E., Sandoval, E., Binatti, E., Scarpini, E., Helbig, E.T., Casalone, E., Urrechaga, E., Paraboschi, E.M., Pontali, E., Reverter, E., Calderon, E.J., Navas, E., Solligard, E., Contro, E., Arana-Arri, E., Aziz, F., Garcia, F., Garcia Sanchez, F., Ceriotti, F., Martinelli-Boneschi, F., Peyvandi, F., Kurth, F., Blasi, F., Malvestiti, F., Medrano, F.J., Mesonero, F., Rodriguez-Frias, F., Hanses, F., Muller, F., Hemmrich-Stanisak, G., Bellani, G., Grasselli, G., Pezzoli, G., Costantino, G., Albano, G., Cardamone, G., Bellelli, G., Citerio, G., Foti, G., Lamorte, G., Matullo, G., Baselli, G., Kurihara, H., Neb, H., My, I., Kurth, I., Hernandez, I., Pink, I., de Rojas, I., Galvan-Femenia, I., Holter, J.C., Afset, J.E., Heyckendorf, J., Kassens, J., Damas, J.K., Rybniker, J., Altmuller, J., Ampuero, J., Martin, J., Erdmann, J., Banales, J.M., Badia, J.R., Dopazo, J., Schneider, J., Bergan, J., Barretina, J., Walter, J., Hernandez Quero, J., Goikoetxea, J., Delgado, J., Guerrero, J.M., Fazaal, J., Kraft, J., Schroder, J., Risnes, K., Banasik, K., Muller, K.E., Gaede, K.I., Garcia-Etxebarria, K., Tonby, K., Heggelund, L., Izquierdo-Sanchez, L., Bettini, L.R., Sumoy, L., Sander, L.E., Lippert, L.J., Terranova, L., Nkambule, L., Knopp, L., Gustad, L.T., Garbarino, L., Santoro, L., Tellez, L., Roade, L., Ostadreza, M., Intxausti, M., Kogevinas, M., Riveiro-Barciela, M., Berger, M.M., Schaefer, M., Niemi, M.E.K., Gutierrez-Stampa, M.A., Carrabba, M., Figuera Basso, M.E., Valsecchi, M.G., Hernandez-Tejero, M., Vehreschild, M., Manunta, M., Acosta-Herrera, M., D'Angio, M., Baldini, M., Cazzaniga, M., Grimsrud, M.M., Cornberg, M., Nothen, M.M., Marquie, M., Castoldi, M., Cordioli, M., Cecconi, M., D'Amato, M., Augustin, M., Tomasi, M., Boada, M., Dreher, M., Seilmaier, M.J., Joannidis, M., Wittig, M., Mazzocco, M., Ciccarelli, M., Rodriguez-Gandia, M., Bocciolone, M., Miozzo, M., Imaz Ayo, N., Blay, N., Chueca, N., Montano, N., Braun, N., Ludwig, N., Marx, N., Martinez, N., Norwegian, S.-C.-S.g., Cornely, O.A., Witzke, O., Palmieri, O., Pa Study, G., Faverio, P., Preatoni, P., Bonfanti, P., Omodei, P., Tentorio, P., Castro, P., Rodrigues, P.M., Espana, P.P., Hoffmann, P., Rosenstiel, P., Schommers, P., Suwalski, P., de Pablo, R., Ferrer, R., Bals, R., Gualtierotti, R., Gallego-Duran, R., Nieto, R., Carpani, R., Morilla, R., Badalamenti, S., Haider, S., Ciesek, S., May, S., Bombace, S., Marsal, S., Pigazzini, S., Klein, S., Pelusi, S., Wilfling, S., Bosari, S., Volland, S., Brunak, S., Raychaudhuri, S., Schreiber, S., Heilmann-Heimbach, S., Aliberti, S., Ripke, S., Dudman, S., Wesse, T., Zheng, T., Storm Study group, T.H.T.F.T.H.G.T.F., Bahmer, T., Eggermann, T., Illig, T., Brenner, T., Pumarola, T., Feldt, T., Folseraas, T., Gonzalez Cejudo, T., Landmesser, U., Protzer, U., Hehr, U., Rimoldi, V., Monzani, V., Skogen, V., Keitel, V., Kopfnagel, V., Friaza, V., Andrade, V., Moreno, V., Albrecht, W., Peter, W., Poller, W., Farre, X., Yi, X., Wang, X., Khodamoradi, Y., Karadeniz, Z., Latiano, A., Goerg, S., Bacher, P., Koehler, P., Tran, F., Zoller, H., Schulte, E.C., Heidecker, B., Ludwig, K.U., Fernandez, J., Romero-Gomez, M., Albillos, A., Invernizzi, P., Buti, M., Duga, S., Bujanda, L., Hov, J.R., Lenz, T.L., Asselta, R., de Cid, R., Valenti, L., Karlsen, T.H., Caceres, M., and Franke, A. (2022). Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Hum Mol Genet 31, 3945-3966. https://www.ncbi.nlm.nih.gov/pubmed/35848942.


Dufour, W., Alawbathani, S., Jourdain, A.S., Asif, M., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., Hohne, W., Lyonnet, S., Ba-Saddik, I.A., Manouvrier-Hanu, S., Motameny, S., Noegel, A.A., Pais, L., Vanlerberghe, C., Wagle, P., White, S.M., Willems, M., Nurnberg, P., Escande, F., Petit, F., and Hussain, M.S. (2022). Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genetics in medicine : official journal of the American College of Medical Genetics 24, 1708-1721. https://www.ncbi.nlm.nih.gov/pubmed/35583550.


Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallee, M., Fournier, F., Lemacon, A., Adank, M.A., Allen, J., Altmuller, J., Arnold, N., Ausems, M., Berutti, R., Bolla, M.K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C., Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Horvath, J., Ikram, M.A., Kaulfuss, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J.W.M., Niederacher, D., Nurnberg, P., Ott, C.E., Peters, A., Pharoah, P.D.P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stabler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F., Genome Of The Netherlands, P., Ghs Study, G., Devilee, P., Tavtigian, S., Bader, G.D., Meindl, A., Goldgar, D.E., Andrulis, I.L., Schmutzler, R.K., Easton, D.F., Schmidt, M.K., Hahnen, E., and Simard, J. (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel) 14. https://www.ncbi.nlm.nih.gov/pubmed/35884425.


Feng, T., Brunger, T., Perez-Palma, E., Heyne, H., Matthews, E., Semsarian, C., Symonds, J.D., Zuberi, S.M., Lal, D., Schorge, S., and Brunklaus, A. (2022). Comparison of variant effects in SCN-gene paralogs predict function across sodium channelopathies. Epilepsia 63, 191-192. <Go to ISI>://WOS:000854255900372.


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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.


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.


Heger, J.M., Mattlener, J., Godel, P., Balke-Want, H., Sieg, N., Kutsch, N., Becker, K., Weiss, J., Reinhardt, H.C., Hallek, M., Borchmann, P., von Tresckow, B., and Borchmann, S. (2022). Noninvasive, Dynamic Risk Profiling of Primary Central Nervous System Lymphoma By Peripheral Blood Ctdna-Sequencing. Blood 140, 3537-3538. <Go to ISI>://WOS:000893223203254.


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.


Iqbal, S., Brunger, T., Perez-Palma, E., Hoksza, D., Campbell, A.J., Daly, M.J., May, P., and Lal, D. (2022). Genomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins. Biophys J 121, 165a-166a. <Go to ISI>://WOS:000759523001073.


Ishorst, N., Shkuro, H., Fazaal, J., Hoebel, A.K., Thiele, H., Kruse, T., Dixon, M.J., Ludwig, K.U., and Mangold, E. (2022). Search for exonic homozygous/compound heterozygous variants in affected sib-pairs identifies novel candidate genes for nonsyndromic cleft palate. European Journal of Human Genetics 30, 172-172. <Go to ISI>://WOS:000779367700455.


Johannesen, K.M., Iqbal, S., Guazzi, M., Mohammadi, N.A., Perez, E., Lal, D., Schaefer, E., De Saint Martin, A., Abiwarde, M.T., McTague, A., Pons, R., Piton, A., Kurian, M., Deprez, M., de Waele, L., Brilstra, E., Verbeek, N.E., van Kempen, M.V.K., Visser, G., Braakman, H.M.H., Haeusler, M., Elbracht, M., Sternman, D., Haeusler, M., Elbracht, M., Sternman, D., Vaher, U., Smol, T., Kennedy, J., Klein, K.M., Au, B., Smyth, K., Morgan, T., Dewenter, M., Dinopoulos, A., Lederer, D., Liao, V., Ahring, P.K., Moller, R.S., and Gardella, E. (2022). Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype. European Journal of Human Genetics 30, 278-279. <Go to ISI>://WOS:000779367701193.


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.


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Kalanithy, J.C., Dworschak, G.C., Rosenfeld, J.A., Mingardo, E., Stegmann, J.D., Hilger, A.C., Tan, W.H., Coury, S.A., Woerner, A.C., Sebastian, J., Levy, P.A., Becker, A., Lindenberg, T.T., Yilmaz, O., Thiele, H., Posey, J.E., Lupski, J.R., Merz, W.M., Odermatt, B., and Reutter, H. (2022). Monoallelic variants in TFAP2E cause central nervous system and craniofacial anomalies. European Journal of Human Genetics 30, 62-63. <Go to ISI>://WOS:000779367700157.


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.


Kaygusuz, E., Khayyat, A.I.A., Abdullah, U., Budde, B.S., Asif, M., Ahmed, I., Makhdoom, E.U.H., Sur-Erdem, I., Baig, J.M., Khan, M.M.A., Toliat, M.R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N.A., Noegel, A.A., Hassan, M.J., Thiele, H., Tinschert, S., Eichinger, L., Honing, S., Baig, S.M., Nurnberg, P., and Hussain, M.S. (2022). Corrigendum. Clin Genet 101, 272. https://www.ncbi.nlm.nih.gov/pubmed/34984666.


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 37, 1895-1905. 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.


Meeser, A., Bartenhagen, C., Werr, L., Hellmann, A.M., Kahlert, Y., Hemstedt, N., Nurnberg, P., Altmuller, J., Ackermann, S., Hero, B., Simon, T., Peifer, M., Fischer, M., and Rosswog, C. (2022). Reliable assessment of telomere maintenance mechanisms in neuroblastoma. Cell Biosci 12, 160. https://www.ncbi.nlm.nih.gov/pubmed/36153564.


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 141, 1785-1794. https://www.ncbi.nlm.nih.gov/pubmed/35536377.


Nothnagel, M., Fan, G., Guo, F., He, Y., Hou, Y., Hu, S., Huang, J., Jiang, X., Kim, W., Kim, K., Li, C., Li, H., Li, L., Li, S., Li, Z., Liang, W., Liu, C., Lu, D., Luo, H., Nie, S., Shi, M., Sun, H., Tang, J., Wang, L., Wang, C.C., Wang, D., Wen, S.Q., Wu, H., Wu, W., Xing, J., Yan, J., Yan, S., Yao, H., Ye, Y., Yun, L., Zeng, Z., Zha, L., Zhang, S., Zheng, X., Willuweit, S., and Roewer, L. (2022). Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes. Hum Genet 141, 175-176. https://www.ncbi.nlm.nih.gov/pubmed/34894272.


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 47, 1424-1426. https://www.ncbi.nlm.nih.gov/pubmed/35574671.


Peters, S., Sommer, A.K., Trueck, C., Steinke-Lange, V., Perne, C., Altmueller, J., Thiele, H., Holinski-Feder, E., Spier, I., and Aretz, S. (2022). Exome sequencing identified potential causative candidate genes for serrated polyposis syndrome. European Journal of Human Genetics 30, 428-428. <Go to ISI>://WOS:000779367702102.


Piechotta, M., Naarmann-de Vries, I.S., Wang, Q., Altmuller, J., and Dieterich, C. (2022). RNA modification mapping with JACUSA2. Genome Biol 23, 115. https://www.ncbi.nlm.nih.gov/pubmed/35578346.


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.


Rolfes, M., Borde, J., Mollenhoff, K., Kayali, M., Ernst, C., Gehrig, A., Sutter, C., Ramser, J., Niederacher, D., Horvath, J., Arnold, N., Meindl, A., Auber, B., Rump, A., Wang-Gohrke, S., Ritter, J., Hentschel, J., Thiele, H., Altmuller, J., Nurnberg, P., Rhiem, K., Engel, C., Wappenschmidt, B., Schmutzler, R.K., Hahnen, E., and Hauke, J. (2022). Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancers (Basel) 14. https://www.ncbi.nlm.nih.gov/pubmed/35805063.


Schlautmann, L.P., Lackmann, J.W., Altmuller, J., Dieterich, C., Boehm, V., and Gehring, N.H. (2022). Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance. Nucleic Acids Res 50, 5899-5918. https://www.ncbi.nlm.nih.gov/pubmed/35640609.


Schmetz, A., Xiong, X., Cesarato, N., Basmanav, F.B., Gierthmuehlen, P., Schaper, J., Schlieper, D., Wehner, M., Thiele, H., Frank, J., Betz, R.C., and Redler, S. (2022). Phenotype diversity associated with TP63 mutations. J Dtsch Dermatol Ges 20, 872-875. https://www.ncbi.nlm.nih.gov/pubmed/35593033.


Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmuller, J., Thiele, H., Nurnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuss, S., Yigit, G., and Wollnik, B. (2022). Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Front Cell Dev Biol 10, 1025332. https://www.ncbi.nlm.nih.gov/pubmed/36467423.


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.


Selle, J., Abend, B., Klymenko, O., Georgomanolis, T., Vohlen, C., Wilke, R., Dotsch, J., and Alcazar, M.A.A. (2022). Perinatal Overactive Adipose Tissue Induces DNA Damage Response, Loss of Alveolar Epithelial Cells Type II (ATII) and Arrest Alveolarization. American Journal of Respiratory and Critical Care Medicine 205. <Go to ISI>://WOS:000792480406099.


Selle, J., Dinger, K., Jentgen, V., Zanetti, D., Will, J., Georgomanolis, T., Vohlen, C., Wilke, R., Kojonazarov, B., Klymenko, O., Mohr, J., S, V.K.-R., Rhodes, C.J., Ulrich, A., Hirani, D., Nestler, T., Odenthal, M., Mahabir, E., Nayakanti, S., Dabral, S., Wunderlich, T., Priest, J., Seeger, W., Dotsch, J., Pullamsetti, S.S., and Alejandre Alcazar, M.A. (2022). Maternal and perinatal obesity induce bronchial obstruction and pulmonary hypertension via IL-6-FoxO1-axis in later life. Nature communications 13, 4352. https://www.ncbi.nlm.nih.gov/pubmed/35896539.


Sexton-Oates, A., Di Genova, A., Mangiante, L., Voegele, C., Tabone-Eglinger, S., Walter, T., Ghantous, A., Cuenin, C., Nurnberg, P., Altmuller, J., Boland, A., Deleuze, J.F., Speel, E.J., Dingemans, A.M., Moonen, L., Derks, J., Dayton, T., Damiola, F., Girard, N., Lantuejoul, S., Alcala, N., Foll, M., Fernandez-Cuesta, L., and network, N.l. (2022). Characterising Aggressive Pulmonary Carcinoids Through Integrative Omics Analysis Within the lungNENomics Project. J Thorac Oncol 17, S45-S46. <Go to ISI>://WOS:000858678100071.


Siribbal, S.M., Ilyas, S., Renner, A.M., Iqbal, S., Munoz Vazquez, S., Moawia, A., Valldor, M., Hussain, M.S., Schomacker, K., and Mathur, S. (2022). Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells. Rsc Adv 12, 31830-31845. https://www.ncbi.nlm.nih.gov/pubmed/36380928.


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