skip to content

Publications 2017

Ahmad, I., Baig, S.M., Abdulkareem, A.R., Hussain, M.S., Sur, I., Toliat, M.R., Nurnberg, G., Dalibor, N., Moawia, A., Waseem, S.S., Asif, M., Nagra, H., Sher, M., Khan, M.M.A., Hassan, I., Rehman, S.U., Thiele, H., Altmuller, J., Noegel, A.A., and Nurnberg, P. (2017). Genetic heterogeneity in Pakistani microcephaly families revisited. Clin Genet 92, 62-68.

Akcakaya, N.H., Capan, O.Y., Schulz, H., Sander, T., Caglayan, S.H., and Yapici, Z. (2017). De novo 8p23.1 deletion in a patient with absence epilepsy. Epileptic disorders : international epilepsy journal with videotape 19, 217-221.

Altmuller, J., Haenisch, B., Kawalia, A., Menzen, M., Nothen, M.M., Fier, H., and Molderings, G.J. (2017). Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing. Immunogenetics 69, 359-369.

Ammann, S., Lehmberg, K., Zur Stadt, U., Klemann, C., Bode, S.F.N., Speckmann, C., Janka, G., Wustrau, K., Rakhmanov, M., Fuchs, I., Hennies, H.C., and Ehl, S. (2017). Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. Journal of clinical immunology 37, 770-780.

Awazawa, M., Gabel, P., Tsaousidou, E., Nolte, H., Kruger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmuller, J., Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Bluher, M., and Bruning, J.C. (2017). A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat Med.

Awazawa, M., Gabel, P., Tsaousidou, E., Nolte, H., Kruger, M., Schmitz, J., Ackermann, P.J., Brandt, C., Altmuller, J., Motameny, S., Wunderlich, F.T., Kornfeld, J.W., Bluher, M., and Bruning, J.C. (2017). A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle. Nat Med.

Barmeyer, C., Erko, I., Awad, K., Fromm, A., Bojarski, C., Meissner, S., Loddenkemper, C., Kerick, M., Siegmund, B., Fromm, M., Schweiger, M.R., and Schulzke, J.D. (2017). Epithelial barrier dysfunction in lymphocytic colitis through cytokine-dependent internalization of claudin-5 and -8. Journal of gastroenterology.

Basmanav, F.B., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M.T., Valentin, F., Wiegmann, H., Huchenq, A., Kandil, R., Bartels, N.G., Kilic, A., George, S., Ralser, D.J., Bergner, S., Ferguson, D.J., Oprisoreanu, A., Wehner, M., Thiele, H., Altmuller, J., Nurnberg, P., Swan, D., Houniet, D., Buchner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Schoch, S., Oji, V., Hamm, H., Farrant, P., Simon, M., and Betz, R.C. (2017). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. Experimental dermatology 26, E48-E48.

Binder, H., Hopp, L., Schweiger, M.R., Hoffmann, S., Juhling, F., Kerick, M., Timmermann, B., Siebert, S., Grimm, C., Nersisyan, L., Arakelyan, A., Herberg, M., Buske, P., Loeffler-Wirth, H., Rosolowski, M., Engel, C., Przybilla, J., Peifer, M., Friedrichs, N., Moeslein, G., Odenthal, M., Hussong, M., Peters, S., Holzapfel, S., Nattermann, J., Hueneburg, R., Schmiegel, W., Royer-Pokora, B., Aretz, S., Kloth, M., Kloor, M., Buettner, R., Galle, J., and Loeffler, M. (2017). Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome. The Journal of pathology 243, 242-254.

Bramswig, N.C., Ludecke, H.J., Hamdan, F.F., Altmuller, J., Beleggia, F., Elcioglu, N.H., Freyer, C., Gerkes, E.H., Demirkol, Y.K., Knupp, K.G., Kuechler, A., Li, Y., Lowenstein, D.H., Michaud, J.L., Park, K., Stegmann, A.P.A., Veenstra-Knol, H.E., Wieland, T., Wollnik, B., Engels, H., Strom, T.M., Kleefstra, T., and Wieczorek, D. (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human genetics 136, 821-834.

Bucker, R., Krug, S.M., Moos, V., Bojarski, C., Schweiger, M.R., Kerick, M., Fromm, A., Janssen, S., Fromm, M., Hering, N.A., Siegmund, B., Schneider, T., Barmeyer, C., and Schulzke, J.D. (2017). Campylobacter jejuni impairs sodium transport and epithelial barrier function via cytokine release in human colon. Mucosal immunology.

Crispatzu, G., Kulkarni, P., Toliat, M.R., Nurnberg, P., Herling, M., Herling, C.D., and Frommolt, P. (2017). Semi-automated cancer genome analysis using high-performance computing. Hum Mutat 38, 1325-1335.

Dennenmoser, S., Sedlazeck, F.J., Iwaszkiewicz, E., Li, X.Y., Altmuller, J., and Nolte, A.W. (2017). Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin. Molecular ecology 26, 4712-4724.

Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmuller, J., Netzer, C., Thiele, H., Nurnberg, P., Yigit, G., Jager, M., Hecht, J., Kruger, U., Mielke, T., Krawitz, P.M., Horn, D., Schuelke, M., Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., Fischer-Zirnsak, B., and Kornak, U. (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet 101, 833-843.

Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nurnberg, G., Thoenes, M., Becker, J., Altmuller, J., Volk, A.E., Kubisch, C., and Heller, R. (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Human molecular genetics 26, 4055-4066.

Goedbloed, D.J., Czypionka, T., Altmuller, J., Rodriguez, A., Kupfer, E., Segev, O., Blaustein, L., Templeton, A.R., Nolte, A.W., and Steinfartz, S. (2017). Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra). Heredity 119, 429-437.

Gordon, C.T., Xue, S., Yigit, G., Filali, H., Chen, K., Rosin, N., Yoshiura, K.I., Oufadem, M., Beck, T.J., McGowan, R., Magee, A.C., Altmuller, J., Dion, C., Thiele, H., Gurzau, A.D., Nurnberg, P., Meschede, D., Muhlbauer, W., Okamoto, N., Varghese, V., Irving, R., Sigaudy, S., Williams, D., Ahmed, S.F., Bonnard, C., Kong, M.K., Ratbi, I., Fejjal, N., Fikri, M., Elalaoui, S.C., Reigstad, H., Bole-Feysot, C., Nitschke, P., Ragge, N., Levy, N., Tuncbilek, G., Teo, A.S., Cunningham, M.L., Sefiani, A., Kayserili, H., Murphy, J.M., Chatdokmaiprai, C., Hillmer, A.M., Wattanasirichaigoon, D., Lyonnet, S., Magdinier, F., Javed, A., Blewitt, M.E., Amiel, J., Wollnik, B., and Reversade, B. (2017). De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet 49, 249-255.

Grau, J.H., Hilgers, L., Altmuller, J., Slechtova, V., and Bohlenc, J. (2017). The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae). Mitochondrial DNA B 2, 46-47.

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K.M., Schupart, R., Nurnberg, P., Zschocke, J., Schmuth, M., Volc-Platzer, B., and Hennies, H.C. (2017). Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. Br J Dermatol 176, 1068-1073.

Hahnen, E., Lederer, B., Hauke, J., Loibl, S., Krober, S., Schneeweiss, A., Denkert, C., Fasching, P.A., Blohmer, J.U., Jackisch, C., Paepke, S., Gerber, B., Kummel, S., Schem, C., Neidhardt, G., Huober, J., Rhiem, K., Costa, S., Altmuller, J., Hanusch, C., Thiele, H., Muller, V., Nurnberg, P., Karn, T., Nekljudova, V., Untch, M., von Minckwitz, G., and Schmutzler, R.K. (2017). Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial. JAMA oncology 3, 1378-1385.

Haliloglu, G., Becker, K., Temucin, C., Talim, B., Kucuksahin, N., Pergande, M., Motameny, S., Nurnberg, P., Aydingoz, U., Topaloglu, H., and Cirak, S. (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. Journal of human genetics 62, 497-501.

Harter, P., Hauke, J., Heitz, F., Reuss, A., Kommoss, S., Marme, F., Heimbach, A., Prieske, K., Richters, L., Burges, A., Neidhardt, G., de Gregorio, N., El-Balat, A., Hilpert, F., Meier, W., Kimmig, R., Kast, K., Sehouli, J., Baumann, K., Jackisch, C., Park-Simon, T.W., Hanker, L., Krober, S., Pfisterer, J., Gevensleben, H., Schnelzer, A., Dietrich, D., Neunhoffer, T., Krockenberger, M., Brucker, S.Y., Nurnberg, P., Thiele, H., Altmuller, J., Lamla, J., Elser, G., du Bois, A., Hahnen, E., and Schmutzler, R. (2017). Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS ONE 12, e0186043.

Hartz, A., Pagel, J., Humberg, A., Preuss, M., Schreiter, L., Rupp, J., Figge, J., Karsten, C.M., Nurnberg, P., Herting, E., Gopel, W., and Hartel, C. (2017). The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants. PLoS ONE 12, e0178032.

Heilmann-Heimbach, S., Herold, C., Hochfeld, L.M., Hillmer, A.M., Nyholt, D.R., Hecker, J., Javed, A., Chew, E.G., Pechlivanis, S., Drichel, D., Heng, X.T., Del Rosario, R.C., Fier, H.L., Paus, R., Rueedi, R., Galesloot, T.E., Moebus, S., Anhalt, T., Prabhakar, S., Li, R., Kanoni, S., Papanikolaou, G., Kutalik, Z., Deloukas, P., Philpott, M.P., Waeber, G., Spector, T.D., Vollenweider, P., Kiemeney, L.A., Dedoussis, G., Richards, J.B., Nothnagel, M., Martin, N.G., Becker, T., Hinds, D.A., and Nothen, M.M. (2017). Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness. Nature communications 8, 14694.

Huppke, P., Weissbach, S., Church, J.A., Schnur, R., Krusen, M., Dreha-Kulaczewski, S., Kuhn-Velten, W.N., Wolf, A., Huppke, B., Millan, F., Begtrup, A., Almusafri, F., Thiele, H., Altmuller, J., Nurnberg, P., Muller, M., and Gartner, J. (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nature communications 8, 818.

Hussong, M., Kaehler, C., Kerick, M., Grimm, C., Franz, A., Timmermann, B., Welzel, F., Isensee, J., Hucho, T., Krobitsch, S., and Schweiger, M.R. (2017). The bromodomain protein BRD4 regulates splicing during heat shock. Nucleic Acids Res 45, 382-394.

Kanoungi, G., Nurnberg, P., and Nothnagel, M. (2017). Securing the use of existing sample collections for future human genetic research. European journal of human genetics : EJHG 25, 522-529.

Keupp, K., Richters, L., Bulow, L., Krober, S., Ernst, C., Blumcke, B., Versmold, B., Waha, A., Driesen, J., Baasner, A., Altmuller, J., Thiele, H., Nuernberg, P., Wappenschmidt, B., Neidhardt, G., Rhiem, K., Schmutzler, R., Hahnen, E., and Hauke, J. (2017). TruRisk (R) based next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families reveal high mutation prevalence in additional risk genes. Cancer research 77.

Khan, A.O., Becirovic, E., Betz, C., Neuhaus, C., Altmuller, J., Maria Riedmayr, L., Motameny, S., Nurnberg, G., Nurnberg, P., and Bolz, H.J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Scientific reports 7, 1411.

Khan, A.O., Budde, B.S., Nurnberg, P., Kawalia, A., Lenzner, S., and Bolz, H.J. (2017). Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. Clin Genet.

Koch, M., Freitag-Wolf, S., Schlesinger, S., Borggrefe, J., Hov, J.R., Jensen, M.K., Pick, J., Markus, M.R.P., Hopfner, T., Jacobs, G., Siegert, S., Artati, A., Kastenmuller, G., Romisch-Margl, W., Adamski, J., Illig, T., Nothnagel, M., Karlsen, T.H., Schreiber, S., Franke, A., Krawczak, M., Nothlings, U., and Lieb, W. (2017). Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample. European journal of clinical nutrition 71, 995-1001.

Kudin, A.P., Baron, G., Zsurka, G., Hampel, K.G., Elger, C.E., Grote, A., Weber, Y., Lerche, H., Thiele, H., Nurnberg, P., Schulz, H., Ruppert, A.K., Sander, T., Cheng, Q., Arner, E.S., Schomburg, L., Seeher, S., Fradejas-Villar, N., Schweizer, U., and Kunz, W.S. (2017). Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free radical biology & medicine 106, 270-277.

Lang-Roth, R., Fischer-Krall, E., Kornblum, C., Nurnberg, G., Meschede, D., Goebel, I., Nurnberg, P., Beutner, D., Kubisch, C., Walger, M., and Volk, A.E. (2017). AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiology & neuro-otology 22, 30-40.

Lessel, D., Wu, D., Trujillo, C., Ramezani, T., Lessel, I., Alwasiyah, M.K., Saha, B., Hisama, F.M., Rading, K., Goebel, I., Schutz, P., Speit, G., Hogel, J., Thiele, H., Nurnberg, G., Nurnberg, P., Hammerschmidt, M., Zhu, Y., Tong, D.R., Katz, C., Martin, G.M., Oshima, J., Prives, C., and Kubisch, C. (2017). Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest 127, 3598-3608.

Li, M., Li, Y., Weeks, O., Mijatovic, V., Teumer, A., Huffman, J.E., Tromp, G., Fuchsberger, C., Gorski, M., Lyytikainen, L.P., Nutile, T., Sedaghat, S., Sorice, R., Tin, A., Yang, Q., Ahluwalia, T.S., Arking, D.E., Bihlmeyer, N.A., Boger, C.A., Carroll, R.J., Chasman, D.I., Cornelis, M.C., Dehghan, A., Faul, J.D., Feitosa, M.F., Gambaro, G., Gasparini, P., Giulianini, F., Heid, I., Huang, J., Imboden, M., Jackson, A.U., Jeff, J., Jhun, M.A., Katz, R., Kifley, A., Kilpelainen, T.O., Kumar, A., Laakso, M., Li-Gao, R., Lohman, K., Lu, Y., Magi, R., Malerba, G., Mihailov, E., Mohlke, K.L., Mook-Kanamori, D.O., Robino, A., Ruderfer, D., Salvi, E., Schick, U.M., Schulz, C.A., Smith, A.V., Smith, J.A., Traglia, M., Yerges-Armstrong, L.M., Zhao, W., Goodarzi, M.O., Kraja, A.T., Liu, C., Wessel, J., Boerwinkle, E., Borecki, I.B., Bork-Jensen, J., Bottinger, E.P., Braga, D., Brandslund, I., Brody, J.A., Campbell, A., Carey, D.J., Christensen, C., Coresh, J., Crook, E., Curhan, G.C., Cusi, D., de Boer, I.H., de Vries, A.P., Denny, J.C., Devuyst, O., Dreisbach, A.W., Endlich, K., Esko, T., Franco, O.H., Fulop, T., Gerhard, G.S., Glumer, C., Gottesman, O., Grarup, N., Gudnason, V., Hansen, T., Harris, T.B., Hayward, C., Hocking, L., Hofman, A., Hu, F.B., Husemoen, L.L., Jackson, R.D., Jorgensen, T., Jorgensen, M.E., Kahonen, M., Kardia, S.L., Konig, W., Kooperberg, C., Kriebel, J., Launer, L.J., Lauritzen, T., Lehtimaki, T., Levy, D., Linksted, P., Linneberg, A., Liu, Y., Loos, R.J., Lupo, A., Meisinger, C., Melander, O., Metspalu, A., Mitchell, P., Nauck, M., Nurnberg, P., Orho-Melander, M., Parsa, A., Pedersen, O., Peters, A., Peters, U., Polasek, O., Porteous, D., Probst-Hensch, N.M., Psaty, B.M., Qi, L., Raitakari, O.T., Reiner, A.P., Rettig, R., Ridker, P.M., Rivadeneira, F., Rossouw, J.E., Schmidt, F., Siscovick, D., Soranzo, N., Strauch, K., Toniolo, D., Turner, S.T., Uitterlinden, A.G., Ulivi, S., Velayutham, D., Volker, U., Volzke, H., Waldenberger, M., Wang, J.J., Weir, D.R., Witte, D., Kuivaniemi, H., Fox, C.S., Franceschini, N., Goessling, W., Kottgen, A., and Chu, A.Y. (2017). SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. Journal of the American Society of Nephrology : JASN 28, 981-994.

Li, M., Maljevic, S., Phillips, A.M., Petrovski, S., Hildebrand, M.S., Burgess, R., Mount, T., Zara, F., Striano, P., Schubert, J., Thiele, H., Nurnberg, P., Wong, M., Weisenberg, J.L., Thio, L.L., Lerche, H., Scheffer, I.E., Berkovic, S.F., Petrou, S., and Reid, C.A. (2017). Gain-of-function HCN2 variants in genetic epilepsy. Hum Mutat.

Lienhard, M., Grasse, S., Rolff, J., Frese, S., Schirmer, U., Becker, M., Borno, S., Timmermann, B., Chavez, L., Sultmann, H., Leschber, G., Fichtner, I., Schweiger, M.R., and Herwig, R. (2017). QSEA-modelling of genome-wide DNA methylation from sequencing enrichment experiments. Nucleic Acids Res 45, e44.

Lim, S.Y., Macheleidt, I., Dalvi, P., Schafer, S.C., Kerick, M., Ozretic, L., Ortiz-Cuaran, S., George, J., Merkelbach-Bruse, S., Wolf, J., Timmermann, B., Thomas, R.K., Schweiger, M.R., Buettner, R., and Odenthal, M. (2017). LSD1 modulates the non-canonical integrin beta3 signaling pathway in non-small cell lung carcinoma cells. Scientific reports 7, 10292.

Minnerop, M., Kurzwelly, D., Wagner, H., Soehn, A.S., Reichbauer, J., Tao, F., Rattay, T.W., Peitz, M., Rehbach, K., Giorgetti, A., Pyle, A., Thiele, H., Altmuller, J., Timmann, D., Karaca, I., Lennarz, M., Baets, J., Hengel, H., Synofzik, M., Atasu, B., Feely, S., Kennerson, M., Stendel, C., Lindig, T., Gonzalez, M.A., Stirnberg, R., Sturm, M., Roeske, S., Jung, J., Bauer, P., Lohmann, E., Herms, S., Heilmann-Heimbach, S., Nicholson, G., Mahanjah, M., Sharkia, R., Carloni, P., Brustle, O., Klopstock, T., Mathews, K.D., Shy, M.E., de Jonghe, P., Chinnery, P.F., Horvath, R., Kohlhase, J., Schmitt, I., Wolf, M., Greschus, S., Amunts, K., Maier, W., Schols, L., Nurnberg, P., Zuchner, S., Klockgether, T., Ramirez, A., and Schule, R. (2017). Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140, 1561-1578.

Moawia, A., Shaheen, R., Rasool, S., Waseem, S.S., Ewida, N., Budde, B., Kawalia, A., Motameny, S., Khan, K., Fatima, A., Jameel, M., Ullah, F., Akram, T., Ali, Z., Abdullah, U., Irshad, S., Hohne, W., Noegel, A.A., Al-Owain, M., Hortnagel, K., Stobe, P., Baig, S.M., Nurnberg, P., Alkuraya, F.S., Hahn, A., and Hussain, M.S. (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol 82, 562-577.

Moosa, S., Altmuller, J., Lyngbye, T., Christensen, R., Li, Y., Nurnberg, P., Yigit, G., Vogel, I., and Wollnik, B. (2017). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. Molecular genetics & genomic medicine 5, 580-584.

Moosa, S., Bohrer-Rabel, H., Altmuller, J., Beleggia, F., Nurnberg, P., Li, Y., Yigit, G., and Wollnik, B. (2017). Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. American journal of medical genetics Part A 173, 264-267.

Moosa, S., Haagerup, A., Gregersen, P.A., Petersen, K.K., Altmuller, J., Thiele, H., Nurnberg, P., Cho, T.J., Kim, O.H., Nishimura, G., Wollnik, B., and Vogel, I. (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. American journal of medical genetics Part A 173, 1102-1108.

Moosa, S., Loeys, B., Altmuller, J., Mortier, G., Nurnberg, P., Li, Y., Wollnik, B., and Vogel, I. (2017). Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. Clin Genet 92, 342-343.

Neidhardt, G., Becker, A., Hauke, J., Horvath, J., Bogdanova Markov, N., Heilmann-Heimbach, S., Hellebrand, H., Thiele, H., Altmuller, J., Nurnberg, P., Meindl, A., Rhiem, K., Blumcke, B., Wappenschmidt, B., Schmutzler, R.K., and Hahnen, E. (2017). The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. Eur J Cancer Prev 26, 165-169.

Neidhardt, G., Hauke, J., Ramser, J., Gross, E., Gehrig, A., Muller, C.R., Kahlert, A.K., Hackmann, K., Honisch, E., Niederacher, D., Heilmann-Heimbach, S., Franke, A., Lieb, W., Thiele, H., Altmuller, J., Nurnberg, P., Klaschik, K., Ernst, C., Ditsch, N., Jessen, F., Ramirez, A., Wappenschmidt, B., Engel, C., Rhiem, K., Meindl, A., Schmutzler, R.K., and Hahnen, E. (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA oncology 3, 1245-1248.

Ng, M., Thakkar, D., Southam, L., Werker, P., Ophoff, R., Becker, K., Nothnagel, M., Franke, A., Nurnberg, P., Espirito-Santo, A.I., Izadi, D., Hennies, H.C., Nanchahal, J., Zeggini, E., and Furniss, D. (2017). A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. Am J Hum Genet 101, 417-427.

Niturad, C.E., Lev, D., Kalscheuer, V.M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H.Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M., Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmuller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S.A., Nurnberg, P., van Gassen, K.L.I., Lerche, H., Zara, F., Maljevic, S., and Leshinsky-Silver, E. (2017). Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 140, 2879-2894.

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. (2017). Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes. Hum Genet 136, 485-497.

Oji, V., Preil, M.L., Kleinow, B., Wehr, G., Fischer, J., Hennies, H.C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva-Poor, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-Ortiz, A.M., Zaraeva, I., Diem, A., Giehl, K., Folster-Holst, R., Kiekbusch, K., Hoger, P., Ott, H., and Traupe, H. (2017). S1 guidelines for the diagnosis and treatment of ichthyoses - update. J Dtsch Dermatol Ges 15, 1053-1065.

Paeger, L., Karakasilioti, I., Altmuller, J., Frommolt, P., Bruning, J., and Kloppenburg, P. (2017). Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin. eLife 6.

Perez-Palma, E., Helbig, I., Klein, K.M., Anttila, V., Horn, H., Reinthaler, E.M., Gormley, P., Ganna, A., Byrnes, A., Pernhorst, K., Toliat, M.R., Saarentaus, E., Howrigan, D.P., Hoffman, P., Miquel, J.F., De Ferrari, G.V., Nurnberg, P., Lerche, H., Zimprich, F., Neubauer, B.A., Becker, A.J., Rosenow, F., Perucca, E., Zara, F., Weber, Y.G., and Lal, D. (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J Med Genet 54, 598-606.

Ralser, D.J., Basmanav, F.B., Tafazzoli, A., Wititsuwannakul, J., Delker, S., Danda, S., Thiele, H., Wolf, S., Busch, M., Pulimood, S.A., Altmuller, J., Nurnberg, P., Lacombe, D., Hillen, U., Wenzel, J., Frank, J., Odermatt, B., and Betz, R.C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest 127, 1485-1490.

Rehimi, R., Bartusel, M., Solinas, F., Altmuller, J., and Rada-Iglesias, A. (2017). Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples. Journal of visualized experiments : JoVE.

Reynolds, J.J., Bicknell, L.S., Carroll, P., Higgs, M.R., Shaheen, R., Murray, J.E., Papadopoulos, D.K., Leitch, A., Murina, O., Tarnauskaite, Z., Wessel, S.R., Zlatanou, A., Vernet, A., von Kriegsheim, A., Mottram, R.M., Logan, C.V., Bye, H., Li, Y., Brean, A., Maddirevula, S., Challis, R.C., Skouloudaki, K., Almoisheer, A., Alsaif, H.S., Amar, A., Prescott, N.J., Bober, M.B., Duker, A., Faqeih, E., Seidahmed, M.Z., Al Tala, S., Alswaid, A., Ahmed, S., Al-Aama, J.Y., Altmuller, J., Al Balwi, M., Brady, A.F., Chessa, L., Cox, H., Fischetto, R., Heller, R., Henderson, B.D., Hobson, E., Nurnberg, P., Percin, E.F., Peron, A., Spaccini, L., Quigley, A.J., Thakur, S., Wise, C.A., Yoon, G., Alnemer, M., Tomancak, P., Yigit, G., Taylor, A.M., Reijns, M.A., Simpson, M.A., Cortez, D., Alkuraya, F.S., Mathew, C.G., Jackson, A.P., and Stewart, G.S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet 49, 537-549.

Riessland, M., Kaczmarek, A., Schneider, S., Swoboda, K.J., Lohr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Krober, S., Holker, I., Garbes, L., Gilissen, C., Hoischen, A., Nurnberg, G., Nurnberg, P., Walter, M., Rigo, F., Bennett, C.F., Kye, M.J., Hart, A.C., Hammerschmidt, M., Kloppenburg, P., and Wirth, B. (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am J Hum Genet 100, 297-315.

Schulz, H., Ruppert, A.K., Herms, S., Wolf, C., Mirza-Schreiber, N., Stegle, O., Czamara, D., Forstner, A.J., Sivalingam, S., Schoch, S., Moebus, S., Putz, B., Hillmer, A., Fricker, N., Vatter, H., Muller-Myhsok, B., Nothen, M.M., Becker, A.J., Hoffmann, P., Sander, T., and Cichon, S. (2017). Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. Nature communications 8, 1511.

Scicluna, B.P., van Vught, L.A., Zwinderman, A.H., Wiewel, M.A., Davenport, E.E., Burnham, K.L., Nurnberg, P., Schultz, M.J., Horn, J., Cremer, O.L., Bonten, M.J., Hinds, C.J., Wong, H.R., Knight, J.C., and van der Poll, T. (2017). Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study. The Lancet Respiratory medicine 5, 816-826.

Scicluna, B.P., Wiewel, M.A., van Vught, L.A., Hoogendijk, A.J., Klarenbeek, A.M., Franitza, M., Toliat, M.R., Nurnberg, P., Horn, J., Bonten, M.J., Schultz, M.J., Cremer, O.L., and van der Poll, T. (2017). A Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis Upon Intensive Care Unit Admission. Am J Respir Crit Care Med.

Siede, D., Rapti, K., Gorska, A.A., Katus, H.A., Altmuller, J., Boeckel, J.N., Meder, B., Maack, C., Volkers, M., Muller, O.J., Backs, J., and Dieterich, C. (2017). Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease. J Mol Cell Cardiol 109, 48-56.

Sukumaran, S.K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Muller, R., Altmuller, J., Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nurnberg, P., Baig, S.M., Hussain, M.S., and Noegel, A.A. (2017). CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Molecular genetics and genomics : MGG 292, 365-383.

Tsai, T., Veitinger, S., Peek, I., Busse, D., Eckardt, J., Vladimirova, D., Jovancevic, N., Wojcik, S., Gisselmann, G., Altmuller, J., Stander, S., Luger, T., Paus, R., Cheret, J., and Hatt, H. (2017). Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation. Experimental dermatology 26, 58-65.

Usluer, S., Kayserili, M.A., Eken, A.G., Yis, U., Leu, C., Altmuller, J., Thiele, H., Nurnberg, P., Sander, T., and Caglayan, S.H. (2017). Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 21, 773-782.

van Doormaal, P.T.C., Ticozzi, N., Weishaupt, J.H., Kenna, K., Diekstra, F.P., Verde, F., Andersen, P.M., Dekker, A.M., Tiloca, C., Marroquin, N., Overste, D.J., Pensato, V., Nurnberg, P., Pulit, S.L., Schellevis, R.D., Calini, D., Altmuller, J., Francioli, L.C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A.C., van den Berg, L.H., Kubisch, C., Landers, J.E., Veldink, J.H., Silani, V., and Volk, A.E. (2017). The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat 38, 1534-1541.

van Vught, L.A., Scicluna, B.P., Wiewel, M.A., Hoogendijk, A.J., Klein Klouwenberg, P.M.C., Ong, D.S.Y., Cremer, O.L., Horn, J., Franitza, M., Toliat, M.R., Nurnberg, P., Bonten, M.M.J., Schultz, M.J., and van der Poll, T. (2017). Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients. Critical care medicine 45, 1854-1862.

Weber, L., Al-Refae, K., Ebbert, J., Jagers, P., Altmuller, J., Becker, C., Hahn, S., Gisselmann, G., and Hatt, H. (2017). Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis. PLoS ONE 12.

Weber, L.V., Al-Refae, K., Wolk, G., Bonatz, G., Altmuller, J., Becker, C., Gisselmann, G., and Hatt, H. (2016). Expression and functionality of TRPV1 in breast cancer cells. Breast Cancer (Dove Med Press) 8, 243-252.

Weissbach, S., Reinert, M.C., Altmuller, J., Kratzner, R., Thiele, H., Rosenbaum, T., Nurnberg, P., and Gartner, J. (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. American journal of medical genetics Part A 173, 2803-2807.

Windpassinger, C., Piard, J., Bonnard, C., Alfadhel, M., Lim, S., Bisteau, X., Blouin, S., Ali, N.B., Ng, A.Y.J., Lu, H., Tohari, S., Talib, S.Z.A., van Hul, N., Caldez, M.J., Van Maldergem, L., Yigit, G., Kayserili, H., Youssef, S.A., Coppola, V., de Bruin, A., Tessarollo, L., Choi, H., Rupp, V., Roetzer, K., Roschger, P., Klaushofer, K., Altmuller, J., Roy, S., Venkatesh, B., Ganger, R., Grill, F., Ben Chehida, F., Wollnik, B., Altunoglu, U., Al Kaissi, A., Reversade, B., and Kaldis, P. (2017). CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. American journal of human genetics 101, 391-403.

Zaki, M., Thoenes, M., Kawalia, A., Nurnberg, P., Kaiser, R., Heller, R., and Bolz, H.J. (2017). Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Frontiers in genetics 8, 130.