skip to content

Publications 2023

Abdel-Salam, G.M.H., Afifi, H.H., Abdel-Hamid, M.S., Ahmed, N.E.B., Taher, M.B., El-Kamah, G., Thiele, H., Nurnberg, P.N., and Bolz, H.J. (2023). Expanding the phenotypic spectrum and clinical severity associated with WLS gene. Journal of human genetics 68, 607-613.

Abdel-Salam, G.M.H., Hellmuth, S., Gradhand, E., Kaseberg, S., Winter, J., Pabst, A.S., Eid, M.M., Thiele, H., Nurnberg, P., Budde, B.S., Toliat, M.R., Brecht, I.B., Schroeder, C., Gschwind, A., Ossowski, S., Hauser, F., Rossmann, H., Abdel-Hamid, M.S., Hegazy, I., Mohamed, A.G., Schneider, D.T., Bertoli-Avella, A., Bauer, P., Pearring, J.N., Pfundt, R., Hoischen, A., Gilissen, C., Strand, D., Zechner, U., Tashkandi, S.A., Faqeih, E.A., Stemmann, O., Strand, S., and Bolz, H.J. (2023). Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors. JCI Insight 8.

Abdullah, U., Asif, M., Anayat, M., Udin, G.N., and Hussain, M.S. (2023). Biallelic mutations in CACTIN encoding component of spliceosome machinery cause severe intellectual disability, speech impairment and epilepsy. European Journal of Human Genetics 31, 465-465. <Go to ISI>://WOS:001050507001482.

Abo Zed, S.E.D., Hackl, A., Bohl, K., Ebert, L., Kieckhofer, E., Muller, C., Becker, K., Fink, G., Nusken, K.D., Nusken, E., Muller, R.U., Schermer, B., and Weber, L.T. (2023). Mycophenolic acid directly protects podocytes by preserving the actin cytoskeleton and increasing cell survival. Scientific reports 13, 4281.

Adesoji, O., and Nothnagel, M. (2023). Benchmarking of univariate pleiotropy detection methods, with an application to epilepsy phenotypes. European Journal of Human Genetics 31, 696-696. <Go to ISI>://WOS:001050507002366.

Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmuller, J., Korejo, A.A., Nurnberg, G., Thiele, H., Tariq, M., Nurnberg, P., and Erdmann, J. (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. Journal of human genetics 68, 107-109.

Ahmad, I., Lokau, J., Kespohl, B., Malik, N.A., Baig, S.M., Hartig, R., Behme, D., Schwab, R., Altmuller, J., Jameel, M., Mucha, S., Thiele, H., Tariq, M., Nurnberg, P., Erdmann, J., and Garbers, C. (2023). The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans. Scientific reports 13, 13479.

Alakloby, O.M., Almuqarrab, F., Zschocke, J., Schmuth, M., Abdulkareem, A., Alnutaifi, K., Borgio, F., Gruber, R., and Hennies, H.C. (2023). Filaggrin gene variants among Saudi patients with ichthyosis vulgaris. Bmc Med Genomics 16, 256.

Alawbethani, S., Asif, M., Dufour, W., Jourdain, A.S., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., Höhne, W., Lyonnet, S., Ba-Saddik, I.A., Manouvrier-Hanu, S., Motameny, S., Noegel, A.A., Pais, L., Vanlerberghe, C., Wagle, P., White, S., Willems, M., Nürnberg, P., Escande, F., Petit, F., and Hussain, M.S. (2023). Pathogenic LEF1 variants disrupt WNT signaling to cause ectodermal dysplasia associated with limb malformations. European Journal of Human Genetics 31, 392-393. <Go to ISI>://WOS:001050507001300.

Asif, M., Abdullah, U., Nurnberg, P., Tinschert, S., and Hussain, M.S. (2023). Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12.

Averdunk, L., Al-Thihli, K., Surowy, H., Ludecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Al Hallak, B., Li, Y., Altmuller, J., Guthoff, T., Wallot, M., Nurnberg, P., Wollnik, B., Jamra, R.A., Al-Maawali, A., and Wieczorek, D. (2023). Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clin Genet 103, 484-491.

Batool, T., Irshad, S., Riaz, M., Mahmood Baig, S., Nuernberg, P., and Hussain, M.S. (2023). Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models. Journal of human genetics 68, 469-475.

Bosselmann, C.M., Leu, C., and Lal, D. (2023). Are AI language models such as ChatGPT ready to improve the care of individuals with epilepsy? Epilepsia 64, 1195-1199.

Bosselmann, C.M., Leu, C., and Lal, D. (2023). Technological and computational approaches to detect somatic mosaicism in epilepsy. Neurobiol Dis 184, 106208.

Brauer, N., Maruta, Y., Lisci, M., Strege, K., Oschlies, I., Nakamura, H., Bohm, S., Lehmberg, K., Brandhoff, L., Ehl, S., Parvaneh, N., Klapper, W., Fukuda, M., Griffiths, G.M., Hennies, H.C., Niehues, T., and Ammann, S. (2023). Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). Front Immunol 14, 1151166.

Brunger, T., Perez-Palma, E., Montanucci, L., Nothnagel, M., Moller, R.S., Schorge, S., Zuberi, S., Symonds, J., Lemke, J.R., Brunklaus, A., Traynelis, S.F., May, P., and Lal, D. (2023). Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain 146, 923-934.

Bundalian, L., Su, Y.Y., Chen, S., Velluva, A., Kirstein, A.S., Garten, A., Biskup, S., Battke, F., Lal, D., Heyne, H.O., Platzer, K., Lin, C.C., Lemke, J.R., Le Duc, D., and Epi, C. (2023). Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population. Am J Hum Genet 110, 1110-1122.

Cesarato, N., Schwieger-Briel, A., Gossmann, Y., Henne, S.K., Hillmann, K., Frommherz, L.H., Wehner, M., Xiong, X., Thiele, H., Oji, V., Milani, D., Tantcheva-Poor, I., Giehl, K., Folster-Holst, R., Teichler, A., Braeckmans, D., Hoeger, P.H., Jones, G., Frank, J., Weibel, L., Blume-Peytavi, U., Hamm, H., Nothen, M.M., Geyer, M., Heilmann-Heimbach, S., Basmanav, F.B., and Betz, R.C. (2023). Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss. Br J Dermatol 189, 741-749.

Dimartino, P., Ceroni, E., Semeraro, R., Giangregorio, T., Niestroj, L.M., Magini, P., Conti, A., Bisulli, F., Lal, D., Bianchini, M., Magi, A., Seri, M., D'Aurizio, R., and Pippucci, T. (2023). MIXER: a Machine-learning method to detect genomic Imbalances exploiting X chromosome exome reads. European Journal of Human Genetics 31, 293-293. <Go to ISI>://WOS:001050507001043.

Erger, F., Aryal, R.P., Reusch, B., Matsumoto, Y., Meyer, R., Zeng, J., Knopp, C., Noel, M., Muerner, L., Wenzel, A., Kohl, S., Tschernoster, N., Rappl, G., Rouvet, I., Schroder-Braunstein, J., Seibert, F.S., Thiele, H., Hausler, M.G., Weber, L.T., Buttner-Herold, M., Elbracht, M., Cummings, S.F., Altmuller, J., Habbig, S., Cummings, R.D., and Beck, B.B. (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proc Natl Acad Sci U S A 120, e2211087120.

Flury, J.M., Meusemann, K., Martin, S., Hilgers, L., Spanke, T., Bohne, A., Herder, F., Mokodongan, D.F., Altmuller, J., Wowor, D., Misof, B., Nolte, A.W., and Schwarzer, J. (2023). Potential Contribution of Ancient Introgression to the Evolution of a Derived Reproductive Strategy in Ricefishes. Genome Biol Evol 15.

Hakim, S., Imran, A., Hussain, M.S., and Mirza, M.S. (2023). RNA-Seq analysis of mung bean (Vigna radiata L.) roots shows differential gene expression and predicts regulatory pathways responding to taxonomically different rhizobia. Microbiol Res 275, 127451.

Hoffmann, L., Coras, R., Kobow, K., Lopez-Rivera, J.A., Lal, D., Leu, C., Najm, I., Nurnberg, P., Herms, J., Harter, P.N., Bien, C.G., Kalbhenn, T., Muller, M., Pieper, T., Hartlieb, T., Kudernatsch, M., Hamer, H., Brandner, S., Rossler, K., Blumcke, I., and Jabari, S. (2023). Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica 145, 851-855.

Hoffmann, L., Coras, R., Kobow, K., Lopez-Rivera, J.A., Lal, D., Leu, C., Najm, I., Nurnberg, P., Herms, J., Harter, P.N., Bien, C.G., Kalbhenn, T., Muller, M., Pieper, T., Hartlieb, T., Kudernatsch, M., Hamer, H., Brandner, S., Rossler, K., Blumcke, I., and Jabari, S. (2023). Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes. Acta neuropathologica 145, 815-827.

Hölzel, S., Ishorst, N., Greve, C., Degen-Hardt, F., Yilmaz, Ö., Lindenberg, T., Drichel, D., Maj, C., Nothnagel, M., Herir-Kwa, J.Y., Veltman, J.A., Zametica, B., Kruse, T., Nowak, S., Carels, C., van Rooij, I., Ludwig, K., Odermatt, B., and Mangold, E. (2023). Disruption of zfhx4 leads to defects in zebrafish craniofacial development matching human characteristics of nonsyndromic cleft lip with cleft palate. European Journal of Human Genetics 31, 385-385. <Go to ISI>://WOS:001050507001282

Honke, J., Hoffmann, L., Coras, R., Kobow, K., Leu, C., Pieper, T., Hartlieb, T., Bien, C.G., Woermann, F., Cloppenborg, T., Kalbhenn, T., Gaballa, A., Hamer, H., Brandner, S., Rossler, K., Dorfler, A., Rampp, S., Lemke, J.R., Baldassari, S., Baulac, S., Lal, D., Nurnberg, P., and Blumcke, I. (2023). Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb. Acta Neuropathol Commun 11, 179.

Iqbal, S., Brunger, T., Perez-Palma, E., Macnee, M., Brunklaus, A., Daly, M.J., Campbell, A.J., Hoksza, D., May, P., and Lal, D. (2023). Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain 146, 519-533.

Ishorst, N., Henschel, L., Thieme, F., Drichel, D., Sivalingam, S., Mehrem, S.L., Fechtner, A.C., Fazaal, J., Welzenbach, J., Heimbach, A., Maj, C., Borisov, O., Hausen, J., Raff, R., Hoischen, A., Dixon, M., Rada-Iglesias, A., Bartusel, M., Rojas-Martinez, A., Aldhorae, K., Braumann, B., Kruse, T., Kirschneck, C., Spanier, G., Reutter, H., Nowak, S., Golz, L., Knapp, M., Buness, A., Krawitz, P., Nothen, M.M., Nothnagel, M., Becker, T., Ludwig, K.U., and Mangold, E. (2023). Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores. Molecular genetics & genomic medicine 11, e2109.

Keil, P., Wulf, A., Kachariya, N., Reuscher, S., Huhn, K., Silbern, I., Altmuller, J., Keller, M., Stehle, R., Zarnack, K., Sattler, M., Urlaub, H., and Strasser, K. (2023). Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA. Nucleic Acids Res 51, 831-851.

Khellaf, L., Ralf, A., Nguyen, K.T., Kayser, M., and Nothnagel, M. (2023). SMapper: visualizing spatial prevalence data of all types, including sparse and incomplete datasets. Bioinform Adv 3, vbad176.

Klöckner, C., Brünger, T., Pérez-Palma, E., Krey, I., Macnee, M., Myers, S.J., Yuan, H.J., Stefanski, A., May, P., Sargent, J., Park, K., Ramsey, A.J., Benke, T., Traynelis, S.F., Lal, D., and Lemke, J. (2023). GRIN Portal: An Interactive Web Application Exploring GRIN Genes and Related Disorders. European Journal of Human Genetics 31, 279-280. <Go to ISI>://WOS:001050507001007

Kollges, R., Stegmann, J., Schneider, S., Waffenschmidt, L., Fazaal, J., Breuer, K., Hilger, A.C., Dworschak, G.C., Mingardo, E., Rosch, W., Hofmann, A., Neissner, C., Ebert, A.K., Stein, R., Younsi, N., Hirsch-Koch, K., Schmiedeke, E., Zwink, N., Jenetzky, E., Thiele, H., Ludwig, K.U., and Reutter, H. (2023). Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation. Biomolecules 13.

Kolvenbach, C.M., Felger, T., Schierbaum, L., Thiffault, I., Pastinen, T., Szczepanska, M., Zaniew, M., Adamczyk, P., Bayat, A., Yilmaz, O., Lindenberg, T.T., Thiele, H., Hildebrandt, F., Hinderhofer, K., Moog, U., Hilger, A.C., Sullivan, B., Bartik, L., Gnys, P., Grote, P., Odermatt, B., Reutter, H.M., and Dworschak, G.C. (2023). X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet 60, 587-596.

Lopez-Rivera, J.A., Leu, C., Macnee, M., Khoury, J., Hoffmann, L., Coras, R., Kobow, K., Bhattarai, N., Perez-Palma, E., Hamer, H., Brandner, S., Rossler, K., Bien, C.G., Kalbhenn, T., Pieper, T., Hartlieb, T., Butler, E., Genovese, G., Becker, K., Altmuller, J., Niestroj, L.M., Ferguson, L., Busch, R.M., Nurnberg, P., Najm, I., Blumcke, I., and Lal, D. (2023). The genomic landscape across 474 surgically accessible epileptogenic human brain lesions. Brain 146, 1342-1356.

Macnee, M., Perez-Palma, E., Brunger, T., Klockner, C., Platzer, K., Stefanski, A., Montanucci, L., Bayat, A., Radtke, M., Collins, R.L., Talkowski, M., Blankenberg, D., Moller, R.S., Lemke, J.R., Nothnagel, M., May, P., and Lal, D. (2023). CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics 39.

Macnee, M., Perez-Palma, E., Lopez-Rivera, J.A., Ivaniuk, A., May, P., Moller, R.S., and Lal, D. (2023). Data-driven historical characterization of epilepsy-associated genes. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 42, 82-87.

Mangiante, L., Alcala, N., Sexton-Oates, A., Di Genova, A., Gonzalez-Perez, A., Khandekar, A., Bergstrom, E.N., Kim, J., Liu, X., Blazquez-Encinas, R., Giacobi, C., Le Stang, N., Boyault, S., Cuenin, C., Tabone-Eglinger, S., Damiola, F., Voegele, C., Ardin, M., Michallet, M.C., Soudade, L., Delhomme, T.M., Poret, A., Brevet, M., Copin, M.C., Giusiano-Courcambeck, S., Damotte, D., Girard, C., Hofman, V., Hofman, P., Mouroux, J., Cohen, C., Lacomme, S., Mazieres, J., de Montpreville, V.T., Perrin, C., Planchard, G., Rousseau, N., Rouquette, I., Sagan, C., Scherpereel, A., Thivolet, F., Vignaud, J.M., Jean, D., Ilg, A.G.S., Olaso, R., Meyer, V., Boland-Auge, A., Deleuze, J.F., Altmuller, J., Nuernberg, P., Ibanez-Costa, A., Castano, J.P., Lantuejoul, S., Ghantous, A., Maussion, C., Courtiol, P., Hernandez-Vargas, H., Caux, C., Girard, N., Lopez-Bigas, N., Alexandrov, L.B., Galateau-Salle, F., Foll, M., and Fernandez-Cuesta, L. (2023). Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity. Nat Genet 55, 607-618.

Maryam, A., Asif, M., Ijaz, M., Fatima, U., Raza, A., Maheen, N., Hussain, M.S., and Muhammad, F. (2023). Targeted Next Generation Sequencing (NGS) identified novel mutations in rare neurodevelopmental disorders. European Journal of Human Genetics 31, 200-200. <Go to ISI>://WOS:001050507000506.

Montanucci, L., Lewis-Smith, D., Collins, R.L., Niestroj, L.M., Parthasarathy, S., Xian, J., Ganesan, S., Macnee, M., Brunger, T., Thomas, R.H., Talkowski, M., Epi, C., Helbig, I., Leu, C., and Lal, D. (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature communications 14, 4392.

Myers, S.J., Yuan, H., Perszyk, R.E., Zhang, J., Kim, S., Nocilla, K.A., Allen, J.P., Bain, J.M., Lemke, J.R., Lal, D., Benke, T.A., and Traynelis, S.F. (2023). Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet 32, 2857-2871.

Nikopoulou, C., Kleinenkuhnen, N., Parekh, S., Sandoval, T., Ziegenhain, C., Schneider, F., Giavalisco, P., Donahue, K.F., Vesting, A.J., Kirchner, M., Bozukova, M., Vossen, C., Altmuller, J., Wunderlich, T., Sandberg, R., Kondylis, V., Tresch, A., and Tessarz, P. (2023). Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver. Nat Aging 3, 1430-1445.

Noor Ul Ayan, H., Ali, P.S., Korejo, A.A., Thiele, H., Nurnberg, P., Tariq, M., Jamal, S.Z., Erdmann, J., and Ahmad, I. (2023). Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy. Clin Genet 104, 266-268.

Nuzhat, N., Van Schil, K., Liakopoulos, S., Bauwens, M., Rey, A.D., Kaseberg, S., Jager, M., Willer, J.R., Winter, J., Truong, H.M., Gruartmoner, N., Van Heetvelde, M., Wolf, J., Merget, R., Grasshoff-Derr, S., Van Dorpe, J., Hoorens, A., Stohr, H., Mansard, L., Roux, A.F., Langmann, T., Dannhausen, K., Rosenkranz, D., Wissing, K.M., Van Lint, M., Rossmann, H., Hauser, F., Nurnberg, P., Thiele, H., Zechner, U., Pearring, J.N., De Baere, E., and Bolz, H.J. (2023). CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. J Clin Invest 133.

Odenthal, J., Dittrich, S., Ludwig, V., Merz, T., Reitmeier, K., Reusch, B., Hohne, M., Cosgun, Z.C., Hohenadel, M., Putnik, J., Gobel, H., Rinschen, M.M., Altmuller, J., Koehler, S., Schermer, B., Benzing, T., Beck, B.B., Brinkkotter, P.T., Habbig, S., and Bartram, M.P. (2023). Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes. Kidney Int Rep 8, 317-329.

Pablo, J.L.B., Cornett, S.L., Wang, L.A., Jo, S., Brunger, T., Budnik, N., Hegde, M., DeKeyser, J.M., Thompson, C.H., Doench, J.G., Lal, D., George, A.L., Jr., and Pan, J.Q. (2023). Scanning mutagenesis of the voltage-gated sodium channel Na(V)1.2 using base editing. Cell Rep 42, 112563.

Rosswog, C., Fassunke, J., Ernst, A., Schomig-Markiefka, B., Merkelbach-Bruse, S., Bartenhagen, C., Cartolano, M., Ackermann, S., Theissen, J., Blattner-Johnson, M., Jones, B., Schramm, K., Altmuller, J., Nurnberg, P., Ortmann, M., Berthold, F., Peifer, M., Buttner, R., Westermann, F., Schulte, J.H., Simon, T., Hero, B., and Fischer, M. (2023). Genomic ALK alterations in primary and relapsed neuroblastoma. British journal of cancer 128, 1559-1571.

Ruiz-Ramirez, J., de la Puente, M., Xavier, C., Ambroa-Conde, A., Alvarez-Dios, J., Freire-Aradas, A., Mosquera-Miguel, A., Ralf, A., Amory, C., Katsara, M.A., Khellaf, T., Nothnagel, M., Cheung, E.Y.Y., Gross, T.E., Schneider, P.M., Uacyisrael, J., Oliveira, S., Klautau-Guimaraes, M.D.N., Carvalho-Gontijo, C., Pospiech, E., Branicki, W., Parson, W., Kayser, M., Carracedo, A., Lareu, M.V., Phillips, C., and Consortium, V. (2023). Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry. Forensic science international Genetics 64, 102853.

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. (2023). Phenotype diversity associated with TP63 mutations. European Journal of Human Genetics 31, 132-132. <Go to ISI>://WOS:001050507000322.

Schmidt, A., Schulte, E.C., Motameny, S., Casadei, N., Brand, F., Nothnagel, M., Vojgani, E., Demidov, G., Becker, K., Altmüller, J., Heimbach, A., Nöthen, M.M., Nürnberg, P., Ossowski, S., Riess, O., and Ludwig, K. (2023). Whole genome sequencing of a German cohort to understand host genetics in COVID-19. European Journal of Human Genetics 31, 708-708. <Go to ISI>://WOS:001050507002398.

Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuss, S., Funke, R., Wilken, B., Yigit, G., and Wollnik, B. (2023). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. European Journal of Human Genetics 31, 513-513. <Go to ISI>://WOS:001050507001599.

Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmuller, J., Nurnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B., and Yigit, G. (2023). Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Hum Genet 142, 543-552.

Schroder, S., Yigit, G., Li, Y., Altmuller, J., Buttel, H.M., Fiedler, B., Kretzschmar, C., Nurnberg, P., Seeger, J., Serpieri, V., Valente, E.M., Wollnik, B., Boltshauser, E., and Brockmann, K. (2023). The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet J Rare Dis 18, 101.

Smuk, V., Lopez-Rivera, J.A., Leu, C., and Lal, D. (2023). The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population. European journal of human genetics : EJHG 31, 243-247.

Stach, T.L., Sieber, G., Shah, M., Simon, S.A., Soares, A., Bornemann, T.L.V., Plewka, J., Kunkel, J., Becker, C., Meyer, F., Boenigk, J., and Probst, A.J. (2023). Temporal disturbance of a model stream ecosystem by high microbial diversity from treated wastewater. Microbiologyopen 12, e1347.

Stefanski, A., Perez-Palma, E., Brunger, T., Montanucci, L., Gati, C., Klockner, C., Johannesen, K.M., Goodspeed, K., Macnee, M., Deng, A.T., Aledo-Serrano, A., Borovikov, A., Kava, M., Bouman, A.M., Hajianpour, M.J., Pal, D.K., Engelen, M., Hagebeuk, E.E.O., Shinawi, M., Heidlebaugh, A.R., Oetjens, K., Hoffman, T.L., Striano, P., Freed, A.S., Futtrup, L., Balslev, T., Abuli, A., Danvoye, L., Lederer, D., Balci, T., Nouri, M.N., Butler, E., Drewes, S., van Engelen, K., Howell, K.B., Khoury, J., May, P., Trinidad, M., Froelich, S., Lemke, J.R., Tiller, J., Freed, A.N., Kang, J.Q., Wuster, A., Moller, R.S., and Lal, D. (2023). SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain 146, 5198-5208.

Stevelink, R., Campbell, C., Chen, S.W., Abou-Khalil, B., Adesoji, O.M., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D.M., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M.D., Balagura, G., Balestrini, S., Barba, C., Barboza, K., Bartolomei, F., Bast, T., Baum, L., Baumgartner, T., Baykan, B., Bebek, N., Becker, A.J., Becker, F., Bennett, C.A., Berghuis, B., Berkovic, S.F., Beydoun, A., Bianchini, C., Bisulli, F., Blatt, I., Bobbili, D.R., Borggraefe, I., Bosselmann, C., Braatz, V., Bradfield, J.P., Brockmann, K., Brody, L.C., Buono, R.J., Busch, R.M., Caglayan, H., Campbell, E., Canafoglia, L., Canavati, C., Cascino, G.D., Castellotti, B., Catarino, C.B., Cavalleri, G.L., Cerrato, F., Chassoux, F., Cherny, S.S., Cheung, C.L., Chinthapalli, K., Chou, I.J., Chung, S.K., Churchhouse, C., Clark, P.O., Cole, A.J., Compston, A., Coppola, A., Cosico, M., Cossette, P., Craig, J.J., Cusick, C., Daly, M.J., Davis, L.K., de Haan, G.J., Delanty, N., Depondt, C., Derambure, P., Devinsky, O., Di Vito, L., Dlugos, D.J., Doccini, V., Doherty, C.P., El-Naggar, H., Elger, C.E., Ellis, C.A., Eriksson, J.G., Faucon, A., Feng, Y.C.A., Ferguson, L., Ferraro, T.N., Ferri, L., Feucht, M., Fitzgerald, M., Fonferko-Shadrach, B., Fortunato, F., Franceschetti, S., Franke, A., French, J.A., Freri, E., Gagliardi, M., Gambardella, A., Geller, E.B., Giangregorio, T., Gjerstad, L., Glauser, T., Goldberg, E., Goldman, A., Granata, T., Greenberg, D.A., Guerrini, R., Gupta, N., Haas, K.F., Hakonarson, H., Hallmann, K., Hassanin, E., Hegde, M., Heinzen, E.L., Helbig, I., Hengsbach, C., Heyne, H.O., Hirose, S., Hirsch, E., Hjalgrim, H., Howrigan, D.P., Hucks, D., Hung, P.C., Iacomino, M., Imbach, L.L., Inoue, Y., Ishii, A., Jamnadas-Khoda, J., Jehi, L., Johnson, M.R., Kälviäinen, R., Kamatani, Y., Kanaan, M., Kanai, M., Kantanen, A.M., Kara, B., Kariuki, S.M., Kasperaviciute, D., Trenite, D.K.N., Kato, M., Kegele, J., Kesim, Y., Khoueiry-Zgheib, N., King, C., Kirsch, H.E., Klein, K.M., Kluger, G., Knake, S., Knowlton, R.C., Koeleman, B.P.C., Korczyn, A.D., Koupparis, A., Kousiappa, I., Krause, R., Krenn, M., Krestel, H., Krey, I., Kunz, W.S., Kurki, M.I., Kurlemann, G., Kuzniecky, R., Kwan, P., Labate, A., Lacey, A., Lal, D., Landoulsi, Z., Lau, Y.L., Lauxmann, S., Leech, S.L., Lehesjoki, A.E., Lemke, J.R., Lerche, H., Lesca, G., Leu, C., Lewin, N., Lewis-Smith, D., Li, G.H.Y., Li, Q.Q.S., Licchetta, L., Lin, K.L., Lindhout, D., Linnankivi, T., Lopes-Cendes, I., Lowenstein, D.H., Lui, C.H.T., Madia, F., Magnusson, S., Marson, A.G., May, P., McGraw, C.M., Mei, D., Mills, J.L., Minardi, R., Mirza, N., Moller, R.S., Molloy, A.M., Montomoli, M., Mostacci, B., Muccioli, L., Muhle, H., Müller-Schlüter, K., Najm, I.M., Nasreddine, W., Neale, B.M., Neubauer, B., Newton, C.R.J.C., Nöthen, M.M., Nothnagel, M., Nürnberg, P., O'Brien, T.J., Okada, Y., Olafsson, E., Oliver, K.L., Özkara, Ç., Palotie, A., Pangilinan, F., Papacostas, S.S., Parrini, E., Pato, C.N., Pato, M.T., Pendziwiat, M., Petrovski, S., Pickrell, W.O., Pinsky, R., Pippucci, T., Poduri, A., Pondrelli, F., Powell, R.H.W., Privitera, M., Rademacher, A., Radtke, R., Ragona, F., Rau, S., Rees, M.I., Regan, B.M., Reif, P.S., Rhelms, S., Riva, A., Rosenow, F., Ryvlin, P., Saarela, A., Sadleir, L.G., Sander, J.W., Sander, T., Scala, M., Scattergood, T., Schachter, S.C., Schankin, C.J., Scheffer, I.E., Schmitz, B., Schoch, S., Schubert-Bast, S., Schulze-Bonhage, A., Scudieri, P., Sham, P., Sheidley, B.R., Shih, J.J., Sills, G.J., Sisodiya, S.M., Smith, M.C., Smith, P.E., Sonsma, A.C.M., Speed, D., Sperling, M.R., Stefansson, H., Stefansson, K., Steinhoff, B.J., Stephani, U., Stewart, W.C., Stipa, C., Striano, P., Stroink, H., Strzelczyk, A., Surges, R., Suzuki, T., Tan, K.M., Taneja, R.S., Tanteles, G.A., Tauboll, E., Thio, L.L., Thomas, G.N., Thomas, R.H., Timonen, O., Tinuper, P., Todaro, M., Topaloglu, P., Tozzi, R., Tsai, M.H., Tumiene, B., Turkdogan, D., Unnsteinsdótir, U., Utkus, A., Vaidiswaran, P., Valton, L., van Baalen, A., Vetro, A., Vining, E.P.G., Visscher, F., von Brauchitsch, S., von Wrede, R., Wagner, R.G., Weber, Y.G., Weckhuysen, S., Weisenberg, J., Weller, M., Widdess-Walsh, P., Wolff, M., Wolking, S., Wu, D., Yamakawa, K., Yang, W.L., Yapici, Z., Yücesan, E., Zagaglia, S., Zahnert, F., Zara, F., Zhou, W., Zimprich, F., Zsurka, G., Ali, Q.Z., and Epilepsy, I.L.A. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics 55, 1471-+.

Strathmann, E.A., Holker, I., Tschernoster, N., Hosseinibarkooie, S., Come, J., Martinat, C., Altmuller, J., and Wirth, B. (2023). Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4. Am J Hum Genet 110, 442-459.

Trombly, G., Said, A.M., Kudin, A.P., Peeva, V., Altmuller, J., Becker, K., Kohrer, K., Zsurka, G., and Kunz, W.S. (2023). The Fate of Oxidative Strand Breaks in Mitochondrial DNA. Antioxidants (Basel) 12.

Tschernoster, N., Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M.P., Komhoff, M., Schumacher, L., Kukat, C., Borodina, T., Quedenau, C., Nurnberg, P., Rinschen, M.M., Driller, J.H., Pedersen, B.P., Schlingmann, K.P., Huttel, B., Bockenhauer, D., Beck, B., and Altmuller, J. (2023). Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome medicine 15, 62.

Völker, M., Foo, J.C., Streit, F., Zillich, L., Sirignano, L., Nürnberg, P., Wienker, T., Wagner, M., Nöthen, M., Nothnagel, M., Walter, H., Kiefer, F., Winterer, G., Rietschel, M., and Witt, S. (2023). W100. Associations of Smoking Behavior with Polygenic Risk Scores for Nicotine Use and Parental Family History of Smoking. Eur Neuropsychopharm 75, S157-S158. <Go to ISI>://WOS:001089437400283

von Brauchitsch, S., Haslinger, D., Lindlar, S., Thiele, H., Bernsen, N., Zahnert, F., Reif, P.S., Balcik, Y., Au, P.Y.B., Josephson, C.B., Altmuller, J., Strzelczyk, A., Knake, S., Rosenow, F., Chiocchetti, A., and Klein, K.M. (2023). The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing. Epilepsia Open 8, 497-508.

Xiong, X., Uddin, S.A., Munir, S., Cesarato, N., Thiele, H., Hassan, N., Kumar, S., Rehman, F.U., Naeem, M., Wali, A., Basit, S., Basmanav, F.B., Ayub, M., and Betz, R.C. (2023). A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family. Clin Exp Dermatol 48, 434-437.

Zarate, Y.A., Bosanko, K., Kannan, A., Thomason, A., Nutt, B., Kumar, N., Simmons, K., Hiegert, A., Hartzell, L., Johnson, A., Prater, T., Pérez-Palma, E., Brünger, T., Stefanski, A., Lal, D., Caffrey, A.R., and Robertson, S.P. (2023). Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome. Human Mutation 2023, 1-9. <Go to ISI>://WOS:000982654900001

Zhu, M., Metzen, F., Hopkinson, M., Betz, J., Heilig, J., Sodhi, J., Imhof, T., Niehoff, A., Birk, D.E., Izu, Y., Kruger, M., Pitsillides, A.A., Altmuller, J., van Osch, G., Straub, V., Schreiber, G., Paulsson, M., Koch, M., and Brachvogel, B. (2023). Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation. iScience 26, 107225.