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., Anayat, M., Tariq, F., Noureen, T., Din, G.N.U., Becker, C., Becker, K., Thiele, H., Makhdoom, E.U.H., Shaiq, P.A., Baig, S.M., Nurnberg, P., Hussain, M.S., Raja, G.K., and Abdullah, U. (2022). Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes (Basel) 14. https://www.ncbi.nlm.nih.gov/pubmed/36672789.
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.
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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.
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