Universität zu Köln

Journal Article

Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438

Lessel, Davor ORCID: 0000-0003-4496-244X, Rading, Katrin, Campbell, Susan E., Thiele, Holger, Altmueller, Janine, Gordon, Leslie B. and Kubisch, Christian (2022). A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. Am. J. Med. Genet. A, 188 (1). S. 216 - 224. HOBOKEN: WILEY. ISSN 1552-4833

Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753

Lessel, Ivana, Chen, Mei-Jan, Luettgen, Sabine, Arndt, Florian, Fuchs, Sigrid, Meien, Stefanie, Thiele, Holger ORCID: 0000-0002-0169-998X, Jones, Julie R., Shaw, Brandon R., Crossman, David K., Nuernberg, Peter, Korf, Bruce R., Kubisch, Christian and Lessel, Davor ORCID: 0000-0003-4496-244X (2020). Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum. Genet., 139 (4). S. 483 - 499. NEW YORK: SPRINGER. ISSN 1432-1203

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Lessel, Davor ORCID: 0000-0003-4496-244X, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szollos, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nuernberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W. and Gordon, Leslie B. (2018). Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum. Genet., 137 (11-12). S. 921 - 940. NEW YORK: SPRINGER. ISSN 1432-1203

Lessel, Davor ORCID: 0000-0003-4496-244X, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas ORCID: 0000-0003-4681-7844, Lessel, Ivana, Alwasiyah, Mohammad K., Saha, Bidisha, Hisama, Fuki M. ORCID: 0000-0001-7772-7855, Rading, Katrin, Goebel, Ingrid, Schuetz, Petra, Speit, Guenter, Hoegel, Josef, Thiele, Holger, Nuernberg, Gudrun, Nuernberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R., Katz, Chen, Martin, George M., Oshima, Junko, Prives, Carol and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2017). Dysfunction of the MDM2/p53 axis is linked to premature aging. J. Clin. Invest., 127 (10). S. 3598 - 3609. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Lessel, Davor ORCID: 0000-0003-4496-244X, Saha, Bidisha, Hisama, Fuki, Kaymakamzade, Bahar, Nurlu, Gulay, Gursoy-Oezdemir, Yasemin, Thiele, Holger, Nuernberg, Peter, Martin, George M., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Oshima, Junko (2014). Atypical Aicardi-Goutieres Syndrome: Is the WRN Locus a Modifier? Am. J. Med. Genet. A, 164 (10). S. 2510 - 2514. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Lessel, Davor ORCID: 0000-0003-4496-244X, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J., Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie ORCID: 0000-0003-2714-965X, Sim, Joe C. H., Smith, Katherine R., Oehler, Judith, Cabrera, Elisa, Freire, Raimundo ORCID: 0000-0003-4473-8894, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J., Delatycki, Martin B., Barbi, Gotthold, von Ameln, Simon ORCID: 0000-0002-2242-3165, Hoegel, Josef, Degoricija, Marina ORCID: 0000-0001-7023-9381, Fertig, Regina, Burkhalter, Martin D., Hofmann, Kay ORCID: 0000-0002-2289-9083, Thiele, Holger, Altmueller, Janine, Nuernberg, Gudrun, Nuernberg, Peter, Bahlo, Melanie ORCID: 0000-0001-5132-0774, Martin, George M., Aalfs, Cora M., Oshima, Junko, Terzic, Janos, Amor, David J., Dikic, Ivan ORCID: 0000-0001-8156-9511, Ramadan, Kristijan and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2014). Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet., 46 (11). S. 1239 - 1245. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718