Publications 2019
Alcala, N., Leblay, N., Gabriel, A.A.G., Mangiante, L., Hervas, D., Giffon, T., Sertier, A.S., Ferrari, A., Derks, J., Ghantous, A., Delhomme, T.M., Chabrier, A., Cuenin, C., Abedi-Ardekani, B., Boland, A., Olaso, R., Meyer, V., Altmuller, J., Le Calvez-Kelm, F., Durand, G., Voegele, C., Boyault, S., Moonen, L., Lemaitre, N., Lorimier, P., Toffart, A.C., Soltermann, A., Clement, J.H., Saenger, J., Field, J.K., Brevet, M., Blanc-Fournier, C., Galateau-Salle, F., Le Stang, N., Russell, P.A., Wright, G., Sozzi, G., Pastorino, U., Lacomme, S., Vignaud, J.M., Hofman, V., Hofman, P., Brustugun, O.T., Lund-Iversen, M., Thomas de Montpreville, V., Muscarella, L.A., Graziano, P., Popper, H., Stojsic, J., Deleuze, J.F., Herceg, Z., Viari, A., Nuernberg, P., Pelosi, G., Dingemans, A.M.C., Milione, M., Roz, L., Brcic, L., Volante, M., Papotti, M.G., Caux, C., Sandoval, J., Hernandez-Vargas, H., Brambilla, E., Speel, E.J.M., Girard, N., Lantuejoul, S., McKay, J.D., Foll, M., and Fernandez-Cuesta, L. (2019). Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids. Nat Commun 10, 3407.
Asif, M., Kaygusuz, E., Brancati, F., Nienberg, C., Nickelsen, A., Jose, J., Hochscherf, J., Niefind, K., Noegel, A.A., Nurnberg, P., and Hussain, M.S. (2019). De novo mutation of CSNK2B encoding beta subunit of casein kinase 2 causes Filippi syndrome. Eur J Hum Genet 27 2, 1504-1505.
Balak, C., Benard, M., Schaefer, E., Iqbal, S., Ramsey, K., Ernoult-Lange, M., Mattioli, F., Llaci, L., Geoffroy, V., Courel, M., Naymik, M., Bachman, K.K., Pfundt, R., Rump, P., Ter Beest, J., Wentzensen, I.M., Monaghan, K.G., McWalter, K., Richholt, R., Le Béchec, A., Jepsen, W., De Both, M., Belnap, N., Boland, A., Piras, I.S., Deleuze, J.F., Szelinger, S., Dollfus, H., Chelly, J., Muller, J., Campbell, A., Lal, D., Rangasamy, S., Mandel, J.L., Narayanan, V., Huentelman, M., Weil, D., and Piton, A. (2019). Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet 105, 509-525.
Bauer, C.K., Schneeberger, P.E., Kortum, F., Altmuller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W., and Kutsche, K. (2019). Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome. Eur J Hum Genet 27 2, 1610-1611.
Bauer, C.K., Schneeberger, P.E., Kortüm, F., Altmüller, J., Santos-Simarro, F., Baker, L., Keller-Ramey, J., White, S.M., Campeau, P.M., Gripp, K.W., and Kutsche, K. (2019). Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca-Activated K Channel SK3 Cause Zimmermann-Laband Syndrome. Am J Hum Genet 104, 1139-1157.
Bustos, B.I., Pérez-Palma, E., Buch, S., Azócar, L., Riveras, E., Ugarte, G.D., Toliat, M., Nürnberg, P., Lieb, W., Franke, A., Hinz, S., Burmeister, G., von Schönfels, W., Schafmayer, C., Völzke, H., Völker, U., Homuth, G., Lerch, M.M., Santos, J.L., Puschel, K., Bambs, C., Roa, J.C., Gutiérrez, R.A., Hampe, J., De Ferrari, G.V., and Miquel, J.F. (2019). Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Sci Rep 9, 772.
Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djémié, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J.R., Lucenteforte, E., Madia, F., Mefford, H.C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A.S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J.R., Van Esch, H., Van Paesschen, W., Waters, J.J., Weckhuysen, S., Zara, F., De Jonghe, P., Sisodiya, S.M., Marini, C., Euro, E.-R.E.S.C., Epi, C.N.V.C., Lehesjioki, A.E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Møller, R.S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E.C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., and Zuffardi, O. (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 60, 689-706.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A., and Cirak, S. (2019). Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. J Hum Genet 64, 1051-1054.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A., and Cirak, S. (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet 64, 803-813.
Demarest, S.T., Olson, H.E., Moss, A., Pestana-Knight, E., Zhang, X., Parikh, S., Swanson, L.C., Riley, K.D., Bazin, G.A., Angione, K., Niestroj, L.M., Lal, D., Juarez-Colunga, E., and Benke, T.A. (2019). CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia 60, 1733-1742.
Dennenmoser, S., Sedlazeck, F.J., Schatz, M.C., Altmüller, J., Zytnicki, M., and Nolte, A.W. (2019). Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol Ecol 28, 1491-1505.
Diegmann, S., Church, J., Schnur, R., Krusen, M., Dreha-Kulaczewski, S., Kuhn-Velten, W., Wolf, A., Huppke, B., Millan, F., Begtrup, A., Almusafri, F., Thiele, H., Altmuller, J., Nurnberg, P., Muller, M., Gartner, J., and Huppke, P. (2019). Inborn de novo mutations in NFE2L2 cause a multisystem disorder in children and adolescents: From gene identification to therapy development. Eur J Hum Genet 27 1, 851-851.
Du, J., Sudarsanam, M., Pérez-Palma, E., Ganna, A., Francioli, L., Iqbal, S., Niestroj, L.M., Leu, C., Weisburd, B., Poterba, T., Nürnberg, P., Daly, M.J., Palotie, A., May, P., and Lal, D. (2019). Variant Score Ranker-a web application for intuitive missense variant prioritization. Bioinformatics 35, 4478-4479.
Florian, R.T., Kraft, F., Klebe, S., Magnin, E., Van Rootselaar, A.F., Kaya, S., Buratti, J., Leitao, E., Giesselmann, S., Kurth, I., Tschernoster, N., Altmueller, J., Lamiral, A., Thivard, L., Leguern, E., Labauge, P., Reif, P.S., Rosenow, F., Klein, K.M., Bennett, M., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., van den Maagdenberg, A., Depienne, C., and Consortium, F. (2019). Familial Adult Myoclonic Epilepsy linked to chromosome 5p15 (FAME3) is caused by an intronic ATTTT/ATTTC expansion in MARCH6. Eur J Hum Genet 27 2, 1468-1469.
Florian, R.T., Kraft, F., Leitão, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A.F., Buratti, J., Kühnel, T., Schröder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., consortium, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., van den Maagdenberg, A., Depienne, C., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., and Zara, F. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat Commun 10, 4919.
Forstner, A.J., Maaser, A., Strohmaier, J., Ludwig, K.U., Degenhardt, F., Streit, F., Thiele, H., Nurnberg, P., Herms, S., Hoffmann, P., Cichon, S., Rietschel, M., and Nothen, M.M. (2019). EXOME SEQUENCING OF MULTIPLY AFFECTED BIPOLAR DISORDER FAMILIES AND FOLLOW-UP RESEQUENCING IMPLICATE RARE VARIANTS IN NEURONAL GENES CONTRIBUTING TO DISEASE ETIOLOGY. Eur Neuropsychopharmacol 29 3, S836-S837.
Frerichs, A., Engelhorn, J., Altmüller, J., Gutierrez-Marcos, J., and Werr, W. (2019). Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem. J Exp Bot 70, 3867-3879.
Gorvin, C.M., Ahmad, B.N., Stechman, M.J., Loh, N.Y., Hough, T.A., Leo, P., Marshall, M., Sethi, S., Bentley, L., Piret, S.E., Reed, A., Jeyabalan, J., Christie, P.T., Wells, S., Simon, M.M., Mallon, A.M., Schulz, H., Huebner, N., Brown, M.A., Cox, R.D., Brown, S.D., and Thakker, R.V. (2019). An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. J Bone Miner Res 34, 497-507.
Gorvin, C.M., Loh, N.Y., Stechman, M.J., Falcone, S., Hannan, F.M., Ahmad, B.N., Piret, S.E., Reed, A.A., Jeyabalan, J., Leo, P., Marshall, M., Sethi, S., Bass, P., Roberts, I., Sanderson, J., Wells, S., Hough, T.A., Bentley, L., Christie, P.T., Simon, M.M., Mallon, A.M., Schulz, H., Cox, R.D., Brown, M.A., Huebner, N., Brown, S.D., and Thakker, R.V. (2019). Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. J Bone Miner Res 34, 1324-1335.
Grassmann, F., Harsch, S., Brandl, C., Kiel, C., Nürnberg, P., Toliat, M.R., Fleckenstein, M., Pfau, M., Schmitz-Valckenberg, S., Holz, F.G., Chew, E.Y., Swaroop, A., Ratnapriya, R., Klein, M.L., Mulyukov, Z., Zamiri, P., and Weber, B.H.F. (2019). Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmol. DOI 10.1001/jamaophthalmol.2019.1318
Grimm, C., Fischer, A., Farrelly, A.M., Kalachand, R., Castiglione, R., Wasserburger, E., Hussong, M., Schultheis, A.M., Altmüller, J., Thiele, H., Reinhardt, H.C., Hauschulz, K., Hennessy, B.T., Herwig, R., Lienhard, M., Buettner, R., and Schweiger, M.R. (2019). Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing. J Mol Diagn 21, 198-213.
Heide, T., Maurer, A., Eipel, M., Knoll, K., Geelvink, M., Veeck, J., Knuechel, R., van Essen, J., Stoehr, R., Hartmann, A., Altmueller, J., Graham, T.A., and Gaisa, N.T. (2019). Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy. J Pathol 248, 230-242.
Herberg, M., Siebert, S., Quaas, M., Thalheim, T., Rother, K., Hussong, M., Altmüller, J., Kerner, C., Galle, J., Schweiger, M.R., and Aust, G. (2019). Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine. Clin Epigenetics 11, 65.
Heyne, H.O., Iqbal, S., Palmer, D., Johannesen, K., Lemke, J., Lerche, H., May, P., Moeller, R.S., Perez, E., Scholl, U., Syrbe, S., Campbell, A.J., Lal, D., Wang, H., and Daly, M.J. (2019). Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels. Eur J Hum Genet 27 2, 1122-1122.
Hussain, M.S., Baig, S.M., Moawia, A., Shaheen, R., Ewida, N., Al-Owain, M., Rasool, S., Budde, B., Hahn, A., Noegel, A.A., Alkuraya, F.S., and Nurnberg, P. (2019). Mutations of KIF14, encoding a kinesin-3 family member of microtubule motors, cause primary microcephaly. Eur J Hum Genet 27 1, 301-302.
Iqbal, S., Jespersen, J.B., Perez-Palma, E., May, P., Palotie, A., Cottrell, J.R., Wagner, F.F., Daly, M.J., Campbell, A.J., and Lal, D. (2019). Functional Interpretation of Single Amino Acid Substitutions in 1,330 Disease-Associated Genes. Biophys J 116 1, 420A-421A.
Ishorst, N., Henschel, L., Thieme, F., Drichel, D., Sivalingam, S., Mehrem, S.L., Fechtner, A.C., Fazaal, J., Welzenbach, J., Heimbach, A., Maj, C., Hausen, J., Raff, R., Hoischen, A., Dixon, M., Rada-Iglesias, A., Bartusel, M., Rojas-Martinez, A., Aldhorae, K., Braumann, B., Kruse, T., Kirschneck, C., Reutter, H., Nowak, S., Golz, L., Knapp, M., Krawitz, P., Nothen, M.M., Nothnagel, M., Becker, T., Ludwig, K.U., and Mangold, E. (2019). Whole-exome sequencing and large-scale re-sequencing in nonsyndromic cleft lip with/without cleft palate identify novel susceptibility genes. Eur J Hum Genet 27 2, 1289-1290.
Ishorst, N., Henschel, L., Thieme, F., Drichel, D., Sivalingam, S., Mehrem, S.L., Fechtner, A.C., Heimbach, A., Alblas, M., Keppler, K., Hoischen, A., Aldhorae, K., Braumann, B., Martini, M., Golz, L., Reutter, H., Nowak, S., Knapp, M., Nothen, M.M., Nothnagel, M., Becker, T., Ludwig, K.U., and Mangold, E. (2019). Large-scale resequencing study of nsCL/P candidate genes in 1061 nsCL/P cases and 1591 controls. Eur J Hum Genet 27 1, 119-120.
Johannesen, K.M., Gardella, E., Encinas, A.C., Lehesjoki, A.E., Linnankivi, T., Petersen, M.B., Lund, I.C.B., Blichfeldt, S., Miranda, M.J., Pal, D.K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C.D., Sisodiya, S.M., Hernandez-Hernandez, L., Krithika, S., Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S.E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M.F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G., and Møller, R.S. (2019). The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 60, 830-844.
Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P., and Votruba, M. (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol 86, 368-383.
Kalasova, I., Hanzlikova, H., Gupta, N., Li, Y., Altmüller, J., Reynolds, J.J., Stewart, G.S., Wollnik, B., Yigit, G., and Caldecott, K.W. (2019). Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ. Neurol Genet 5, e320.
Karakaya, M., Paketci, C., Altmueller, J., Thiele, H., Hoelker, I., Yis, U., and Wirth, B. (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am J Med Genet A 179, 1580-1584.
Karakaya, M., Storbeck, M., Strathmann, E., Delle Vedove, A., Hoelker, I., Altmueller, J., Motameny, S., Alawbathani, S., Thiele, H., Polat, I., Wunderlich, G., Ardicli, D., Topaloglu, H., Kirschner, J., Schrank, B., Maroofian, R., Magnusson, O., Yis, U., Nuernberg, P., Heller, R., and Wirth, B. (2019). Identification and characterization of disease-causing genes in non-5q-SMA by next-generation sequencing technology: Lessons learned from NeurOmics study. Eur J Hum Genet 27 2, 1483-1484.
Katsara, M.A., and Nothnagel, M. (2019). True colors: A literature review on the spatial distribution of eye and hair pigmentation. Forensic Sci Int Genet 39, 109-118.
Kause, F., Zhang, R., Ludwig, M., Schmiedeke, E., Rissmann, A., Thiele, H., Altmueller, J., Herms, S., Hilger, A.C., Hildebrandt, F., and Reutter, H. (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res 111, 591-597.
Kellner, U., Stohr, H., Budde, B., Kellner, S., Weinitz, S., Farmand, G., Lindau, B., and Weber, B.H.F. (2019). North-Carolina Macular dystrophy like phenotype in a three generation pedigree wit autosomal dominant inheritance and exclusion of MCRD1. Invest Ophthalmol Vis Sci 60.
Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Pérez-Palma, E., Axeen, E.T., Hung, C.Y., Olson, H., Swanson, L., Anselm, I., Briere, L.C., High, F.A., Sweetser, D.A., Undiagnosed Diseases, N., Kayani, S., Snyder, M., Calvert, S., Scheffer, I.E., Yang, E., Waugh, J.L., Lal, D., Bodamer, O., Poduri, A., Adams, D.R., Aday, A., Alejandro, M.E., Allard, P., Ashley, E.A., Azamian, M.S., Bacino, C.A., Baker, E., Balasubramanyam, A., Barseghyan, H., Batzli, G.F., Beggs, A.H., Behnam, B., Bellen, H.J., Bernstein, J.A., Bican, A., Bick, D.P., Birch, C.L., Bonner, D., Boone, B.E., Bostwick, B.L., Brokamp, E., Brown, D.M., Brush, M., Burke, E.A., Burrage, L.C., Butte, M.J., Chen, S., Clark, G.D., Coakley, T.R., Cogan, J.D., Colley, H.A., Cooper, C.M., Cope, H., Craigen, W.J., D'Souza, P., Davids, M., Davidson, J.M., Dayal, J.G., Dell'Angelica, E.C., Dhar, S.U., Dipple, K.M., Donnell-Fink, L.A., Dorrani, N., Dorset, D.C., Douine, E.D., Draper, D.D., Dries, A.M., Eckstein, D.J., Emrick, L.T., Eng, C.M., Enns, G.M., Eskin, A., Esteves, C., Estwick, T., Fairbrother, L., Fernandez, L., Ferreira, C., Fieg, E.L., Fisher, P.G., Fogel, B.L., Friedman, N.D., Gahl, W.A., Glanton, E., Godfrey, R.A., Goldman, A.M., Goldstein, D.B., Gould, S.E., Gourdine, J.F., Groden, C.A., Gropman, A.L., Haendel, M., Hamid, R., Hanchard, N.A., High, F., Holm, I.A., Hom, J., Howerton, E.M., Huang, Y., Jamal, F., Jiang, Y.H., Johnston, J.M., Jones, A.L., Karaviti, L., Koeller, D.M., Kohane, I.S., Kohler, J.N., Korrick, S., Koziura, M., Krier, J.B., Kyle, J.E., Lalani, S.R., Lau, C.C., Lazar, J., LeBlanc, K., Lee, B.H., Lee, H., Levy, S.E., Lewis, R.A., Lincoln, S.A., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Majcherska, M.M., Malicdan, M.C.V., Mamounas, L.A., Manolio, T.A., Markello, T.C., Marom, R., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., May, T., McConkie-Rosell, A., McCormack, C.E., McCray, A.T., Merker, J.D., Metz, T.O., Might, M., Moretti, P.M., Morimoto, M., Mulvihill, J.J., Murdock, D.R., Murphy, J.L., Muzny, D.M., Nehrebecky, M.E., Nelson, S.F., Newberry, J.S., Newman, J.H., Nicholas, S.K., Novacic, D., Orange, J.S., Orengo, J.P., Pallais, J.C., Palmer, C.G.S., Papp, J.C., Parker, N.H., Pena, L.D.M., Phillips, J.A., Posey, J.E., Postlethwait, J.H., Potocki, L., Pusey, B.N., Reuter, C.M., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Sampson, J.B., Samson, S.L., Schoch, K., Scott, D.A., Shakachite, L., Sharma, P., Shashi, V., Signer, R., Silverman, E.K., Sinsheimer, J.S., Smith, K.S., Spillmann, R.C., Stoler, J.M., Stong, N., Sullivan, J.A., Tan, Q.K., Tifft, C.J., Toro, C., Tran, A.A., Urv, T.K., Vilain, E., Vogel, T.P., Waggott, D.M., Wahl, C.E., Walley, N.M., Walsh, C.A., Wan, J., Wangler, M.F., Ward, P.A., Waters, K.M., Webb-Robertson, B.M., Westerfield, M., Wheeler, M.T., Wise, A.L., Wolfe, L.A., Worthey, E.A., Yamamoto, S., Yang, Y., Yoon, A.J., Yu, G., Zastrow, D.B., Zhao, C., and Zheng, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia 60, 406-418.
Khan, H.N., Perlee, D., Schoenmaker, L., van der Meer, A.J., Franitza, M., Toliat, M.R., Nürnberg, P., Zwinderman, A.H., van der Poll, T., and Scicluna, B.P. (2019). Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia. J Leukoc Biol 106, 1153-1160.
Kinfe, T.M., Asif, M., Chakravarthy, K.V., Deer, T.R., Kramer, J.M., Yearwood, T.L., Hurlemann, R., Hussain, M.S., Motameny, S., Wagle, P., Nürnberg, P., Gravius, S., Randau, T., Gravius, N., Chaudhry, S.R., and Muhammad, S. (2019). Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling. J Transl Med 17, 205.
Kmietczyk, V., Riechert, E., Kalinski, L., Boileau, E., Malovrh, E., Malone, B., Gorska, A., Hofmann, C., Varma, E., Jürgensen, L., Kamuf-Schenk, V., Altmüller, J., Tappu, R., Busch, M., Most, P., Katus, H.A., Dieterich, C., and Völkers, M. (2019). mA-mRNA methylation regulates cardiac gene expression and cellular growth. Life Sci Alliance 2.
Kolvenbach, C.M., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepanska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B., and Hilger, A.C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet 104, 994-1006.
Kolvenbach, C.M., Frese, S., Dworschak, G.C., Japp, A., Schmidt, J.M., Zaniew, M., Newman, W., Beaman, G., Stuart, H., Woolf, A., Cervellione, R., Rosch, W., Weber, S., Merz, W., Hildebrandt, F., Feldkootter, M., Hoppe, B., Thiele, H., Altmuller, J., Berg, C., Ludwig, M., Grote, P., Reutter, H., Odermatt, B., and Hilger, A.C. (2019). Mutations in BNC2 Lead to Autosomal-Dominant Lower Urinary Tract Obstruction (LUTO). Eur J Hum Genet 27 1, 797-798.
Kunkle, B.W., Grenier-Boley, B., Sims, R., Bis, J.C., Damotte, V., Naj, A.C., Boland, A., Vronskaya, M., van der Lee, S.J., Amlie-Wolf, A., Bellenguez, C., Frizatti, A., Chouraki, V., Martin, E.R., Sleegers, K., Badarinarayan, N., Jakobsdottir, J., Hamilton-Nelson, K.L., Moreno-Grau, S., Olaso, R., Raybould, R., Chen, Y., Kuzma, A.B., Hiltunen, M., Morgan, T., Ahmad, S., Vardarajan, B.N., Epelbaum, J., Hoffmann, P., Boada, M., Beecham, G.W., Garnier, J.G., Harold, D., Fitzpatrick, A.L., Valladares, O., Moutet, M.L., Gerrish, A., Smith, A.V., Qu, L., Bacq, D., Denning, N., Jian, X., Zhao, Y., Del Zompo, M., Fox, N.C., Choi, S.H., Mateo, I., Hughes, J.T., Adams, H.H., Malamon, J., Sanchez-Garcia, F., Patel, Y., Brody, J.A., Dombroski, B.A., Naranjo, M.C.D., Daniilidou, M., Eiriksdottir, G., Mukherjee, S., Wallon, D., Uphill, J., Aspelund, T., Cantwell, L.B., Garzia, F., Galimberti, D., Hofer, E., Butkiewicz, M., Fin, B., Scarpini, E., Sarnowski, C., Bush, W.S., Meslage, S., Kornhuber, J., White, C.C., Song, Y., Barber, R.C., Engelborghs, S., Sordon, S., Voijnovic, D., Adams, P.M., Vandenberghe, R., Mayhaus, M., Cupples, L.A., Albert, M.S., De Deyn, P.P., Gu, W., Himali, J.J., Beekly, D., Squassina, A., Hartmann, A.M., Orellana, A., Blacker, D., Rodriguez-Rodriguez, E., Lovestone, S., Garcia, M.E., Doody, R.S., Munoz-Fernadez, C., Sussams, R., Lin, H., Fairchild, T.J., Benito, Y.A., Holmes, C., Karamujic-Comic, H., Frosch, M.P., Thonberg, H., Maier, W., Roshchupkin, G., Ghetti, B., Giedraitis, V., Kawalia, A., Li, S., Huebinger, R.M., Kilander, L., Moebus, S., Hernández, I., Kamboh, M.I., Brundin, R., Turton, J., Yang, Q., Katz, M.J., Concari, L., Lord, J., Beiser, A.S., Keene, C.D., Helisalmi, S., Kloszewska, I., Kukull, W.A., Koivisto, A.M., Lynch, A., Tarraga, L., Larson, E.B., Haapasalo, A., Lawlor, B., Mosley, T.H., Lipton, R.B., Solfrizzi, V., Gill, M., Longstreth, W.T., Montine, T.J., Frisardi, V., Diez-Fairen, M., Rivadeneira, F., Petersen, R.C., Deramecourt, V., Alvarez, I., Salani, F., Ciaramella, A., Boerwinkle, E., Reiman, E.M., Fievet, N., Rotter, J.I., Reisch, J.S., Hanon, O., Cupidi, C., Andre Uitterlinden, A.G., Royall, D.R., Dufouil, C., Maletta, R.G., de Rojas, I., Sano, M., Brice, A., Cecchetti, R., George-Hyslop, P.S., Ritchie, K., Tsolaki, M., Tsuang, D.W., Dubois, B., Craig, D., Wu, C.K., Soininen, H., Avramidou, D., Albin, R.L., Fratiglioni, L., Germanou, A., Apostolova, L.G., Keller, L., Koutroumani, M., Arnold, S.E., Panza, F., Gkatzima, O., Asthana, S., Hannequin, D., Whitehead, P., Atwood, C.S., Caffarra, P., Hampel, H., Quintela, I., Carracedo, Á., Lannfelt, L., Rubinsztein, D.C., Barnes, L.L., Pasquier, F., Frölich, L., Barral, S., McGuinness, B., Beach, T.G., Johnston, J.A., Becker, J.T., Passmore, P., Bigio, E.H., Schott, J.M., Bird, T.D., Warren, J.D., Boeve, B.F., Lupton, M.K., Bowen, J.D., Proitsi, P., Boxer, A., Powell, J.F., Burke, J.R., Kauwe, J.S.K., Burns, J.M., Mancuso, M., Buxbaum, J.D., Bonuccelli, U., Cairns, N.J., McQuillin, A., Cao, C., Livingston, G., Carlson, C.S., Bass, N.J., Carlsson, C.M., Hardy, J., Carney, R.M., Bras, J., Carrasquillo, M.M., Guerreiro, R., Allen, M., Chui, H.C., Fisher, E., Masullo, C., Crocco, E.A., DeCarli, C., Bisceglio, G., Dick, M., Ma, L., Duara, R., Graff-Radford, N.R., Evans, D.A., Hodges, A., Faber, K.M., Scherer, M., Fallon, K.B., Riemenschneider, M., Fardo, D.W., Heun, R., Farlow, M.R., Kölsch, H., Ferris, S., Leber, M., Foroud, T.M., Heuser, I., Galasko, D.R., Giegling, I., Gearing, M., Hüll, M., Geschwind, D.H., Gilbert, J.R., Morris, J., Green, R.C., Mayo, K., Growdon, J.H., Feulner, T., Hamilton, R.L., Harrell, L.E., Drichel, D., Honig, L.S., Cushion, T.D., Huentelman, M.J., Hollingworth, P., Hulette, C.M., Hyman, B.T., Marshall, R., Jarvik, G.P., Meggy, A., Abner, E., Menzies, G.E., Jin, L.W., Leonenko, G., Real, L.M., Jun, G.R., Baldwin, C.T., Grozeva, D., Karydas, A., Russo, G., Kaye, J.A., Kim, R., Jessen, F., Kowall, N.W., Vellas, B., Kramer, J.H., Vardy, E., LaFerla, F.M., Jöckel, K.H., Lah, J.J., Dichgans, M., Leverenz, J.B., Mann, D., Levey, A.I., Pickering-Brown, S., Lieberman, A.P., Klopp, N., Lunetta, K.L., Wichmann, H.E., Lyketsos, C.G., Morgan, K., Marson, D.C., Brown, K., Martiniuk, F., Medway, C., Mash, D.C., Nöthen, M.M., Masliah, E., Hooper, N.M., McCormick, W.C., Daniele, A., McCurry, S.M., Bayer, A., McDavid, A.N., Gallacher, J., McKee, A.C., van den Bussche, H., Mesulam, M., Brayne, C., Miller, B.L., Riedel-Heller, S., Miller, C.A., Miller, J.W., Al-Chalabi, A., Morris, J.C., Shaw, C.E., Myers, A.J., Wiltfang, J., O'Bryant, S., Olichney, J.M., Alvarez, V., Parisi, J.E., Singleton, A.B., Paulson, H.L., Collinge, J., Perry, W.R., Mead, S., Peskind, E., Cribbs, D.H., Rossor, M., Pierce, A., Ryan, N.S., Poon, W.W., Nacmias, B., Potter, H., Sorbi, S., Quinn, J.F., Sacchinelli, E., Raj, A., Spalletta, G., Raskind, M., Caltagirone, C., Bossù, P., Orfei, M.D., Reisberg, B., Clarke, R., Reitz, C., Smith, A.D., Ringman, J.M., Warden, D., Roberson, E.D., Wilcock, G., Rogaeva, E., Bruni, A.C., Rosen, H.J., Gallo, M., Rosenberg, R.N., Ben-Shlomo, Y., Sager, M.A., Mecocci, P., Saykin, A.J., Pastor, P., Cuccaro, M.L., Vance, J.M., Schneider, J.A., Schneider, L.S., Slifer, S., Seeley, W.W., Smith, A.G., Sonnen, J.A., Spina, S., Stern, R.A., Swerdlow, R.H., Tang, M., Tanzi, R.E., Trojanowski, J.Q., Troncoso, J.C., Van Deerlin, V.M., Van Eldik, L.J., Vinters, H.V., Vonsattel, J.P., Weintraub, S., Welsh-Bohmer, K.A., Wilhelmsen, K.C., Williamson, J., Wingo, T.S., Woltjer, R.L., Wright, C.B., Yu, C.E., Yu, L., Saba, Y., Pilotto, A., Bullido, M.J., Peters, O., Crane, P.K., Bennett, D., Bosco, P., Coto, E., Boccardi, V., De Jager, P.L., Lleo, A., Warner, N., Lopez, O.L., Ingelsson, M., Deloukas, P., Cruchaga, C., Graff, C., Gwilliam, R., Fornage, M., Goate, A.M., Sanchez-Juan, P., Kehoe, P.G., Amin, N., Ertekin-Taner, N., Berr, C., Debette, S., Love, S., Launer, L.J., Younkin, S.G., Dartigues, J.F., Corcoran, C., Ikram, M.A., Dickson, D.W., Nicolas, G., Campion, D., Tschanz, J., Schmidt, H., Hakonarson, H., Clarimon, J., Munger, R., Schmidt, R., Farrer, L.A., Van Broeckhoven, C., C O'Donovan, M., DeStefano, A.L., Jones, L., Haines, J.L., Deleuze, J.F., Owen, M.J., Gudnason, V., Mayeux, R., Escott-Price, V., Psaty, B.M., Ramirez, A., Wang, L.S., Ruiz, A., van Duijn, C.M., Holmans, P.A., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G.D., Lambert, J.C., Pericak-Vance, M.A., Alzheimer Disease Genetics, C., European Alzheimer's Disease, I., Cohorts for, H., Aging Research in Genomic Epidemiology, C., Genetic, Environmental Risk in Ad/Defining Genetic, P., and Environmental Risk for Alzheimer's Disease, C. (2019). Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A?, tau, immunity and lipid processing. Nat Genet 51, 414-430.
Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M., Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V., Lougaris, V., Plebani, A., Altmueller, J., Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F., Bezzina, C.R., Brooks, B.P., and Sefiani, A. (2019). Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun 10, 1180.
Lerche, H., Berkovic, S.F., Lowenstein, D.H., Euro, E.-C.C., Epi, P.G.X.C., Epi, K.C.E.P.G.P., May, P., Wolking, S., Musa, M.K., Lal, D., Heyne, H.O., Bobbili, D.R., Perez-Palma, E., Schubert, J., Becker, F., Thiele, H., Altmüller, J., Jabbari, K., Ruppert, A.K., Jurkowski, W., Striano, P., Caglayan, H., Yalçin, D., Dizdarer, G., Aslan, K., Yapici, Z., Kuscu, D., Siren, A., Møller, R.S., Hjalgrim, H., Nikanorova, M., Muhle, H., Helbig, I., Kunz, W., Weber, Y., Weckhuysen, S., Jonghe, P., Sisodiya, S., Nabbout, R., Balling, R., Sander, T., Koeleman, B.P.C., Palotie, A., Lehesjoki, A.E., Nothnagel, M., Nürnberg, P., Zara, F., Krause, R., Lerche, H., Leu, C., Wolking, S., Peter, S., Weber, Y.G., Weckhuysen, S., Møller, R.S., Nikanorova, M., Muhle, H., Avbersek, A., Heggeli, K., Striano, P., Gambardella, A., Langley, S.R., Krenn, M., Klein, K.M., McCormack, M., Borghei, M., Willis, J., Berghuis, B., Jorgensen, A., Auce, P., Francis, B., Srivastava, P., Sonsma, A.C.M., Sander, J.W., Zimprich, F., Depondt, C., Johnson, M.M., Marson, A.G., Sills, G.J., Kunz, W.S., Cavalleri, G.L., Delanty, N., Zara, F., Krause, R., Lerche, H., Sisodiya, S.M., Heinzen, E.L., Petrovski, S., Allen, A.S., Bellows, S.T., Berkovic, S.F., Bridgers, J., Burgess, R., Cavalleri, G., Chung, S.K., Cossette, P., Delanty, N., Dlugos, D., Epstein, M.P., Freyer, C., Goldstein, D.B., Hildebrand, M.S., Johnson, M.R., Kuzniecky, R., Lowenstein, D.H., Marson, A.G., Mayeux, R., Mebane, C., Mefford, H.C., O'Brien, T.J., Ottman, R., Petrou, S., Pickrell, W.O., Poduri, A., Radtke, R.A., Rees, M.I., Regan, B.M., Ren, Z., Scheffer, I.E., Sills, G.J., Thomas, R.H., and Wang, Q. (2019). Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med 380, e24.
Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., and Hennies, H.C. (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Mol Genet Genomic Med 7, e539.
Lindner, A., Marbach, F., Tschernitz, S., Ortner, C., Berneburg, M., Felthaus, O., Prantl, L., Kye, M.J., Rappl, G., Altmüller, J., Thiele, H., Schreml, S., and Schreml, J. (2019). Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep 9, 8444.
Lipinski, S., Petersen, B.S., Barann, M., Piecyk, A., Tran, F., Mayr, G., Jentzsch, M., Aden, K., Stengel, S.T., Klostermeier, U.C., Sheth, V., Ellinghaus, D., Rausch, T., Korbel, J.O., Nothnagel, M., Krawczak, M., Gilissen, C., Veltman, J.A., Forster, M., Forster, P., Lee, C.C., Fritscher-Ravens, A., Schreiber, S., Franke, A., and Rosenstiel, P. (2019). Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. Cold Spring Harb Mol Case Stud 5.
Maaser, A., Streit, F., Ludwig, K.U., Koller, A.C., Degenhardt, F., Thiele, H., Parra, J.G., Rivas, F., Mayoral, F., Herms, S., Hoffmann, P., Cichon, S., Rietschel, M., Nothen, M.M., and Forstner, A.J. (2019). WHOLE EXOME SEQUENCING OF MULTIPLEX BIPOLAR DISORDER FAMILIES AND FOLLOW-UP RESEQUENCING IMPLICATE RARE VARIANTS IN CELL ADHESION GENES CONTRIBUTING TO DISEASE ETIOLOGY. Eur Neuropsychopharmacol 29 4, 1088-1089.
Maaser, A., Strohmaier, J., Ludwig, K.U., Henschel, L., Streit, F., Degenhardt, F., Sivalingam, S., Schenk, L.M., Koller, A.C., Fischer, S.B., Thiele, H., Nurnberg, P., Parra, J.G., Diaz, G.O., Auburger, G., Albus, M., Borrmann-Hassenbach, M., Gonzalez, M.J., Flores, S.G., Fabeiro, F.J.C., Noriega, F.D., Perez, F.P., Gonzalez, J.H., Rivas, F., Mayoral, F., Herms, S., Hoffmann, P., Cichon, S., Rietschel, M., Nothen, M.M., and Forstner, A.J. (2019). Exome sequencing of multiplex bipolar disorder families and follow-up resequencing implicate rare variants in neuronal genes contributing to disease etiology. Eur J Hum Genet 27 1, 261-262.
Maljevic, S., Møller, R.S., Reid, C.A., Pérez-Palma, E., Lal, D., May, P., and Lerche, H. (2019). Spectrum of GABAA receptor variants in epilepsy. Curr Opin Neurol 32, 183-190.
Marbach, F., Rustad, C.F., Riess, A., uki, D., Hsieh, T.C., Jobani, I., Prescott, T., Bevot, A., Erger, F., Houge, G., Redfors, M., Altmueller, J., Stokowy, T., Gilissen, C., Kubisch, C., Scarano, E., Mazzanti, L., Fiskerstrand, T., Krawitz, P.M., Lessel, D., and Netzer, C. (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, 749-757.
Mehrjoo, Z., Fattahi, Z., Beheshtian, M., Mohseni, M., Poustchi, H., Ardalani, F., Jalalvand, K., Arzhangi, S., Mohammadi, Z., Khoshbakht, S., Najafi, F., Nikuei, P., Haddadi, M., Zohrehvand, E., Oladnabi, M., Mohammadzadeh, A., Jafari, M.H., Akhtarkhavari, T., Gooshki, E.S., Haghdoost, A., Niestroj, L., Helwing, B., Gossmann, Y., Toliat, M., Malekzadeh, R., Nurnberg, P., Kahrizi, K., Najmabadi, H., and Nothnagel, M. (2019). Distinct genetic diversity and heterogeneity of the Iranian population. Eur J Hum Genet 27 2, 1914-1915.
Mehrjoo, Z., Fattahi, Z., Beheshtian, M., Mohseni, M., Poustchi, H., Ardalani, F., Jalalvand, K., Arzhangi, S., Mohammadi, Z., Khoshbakht, S., Najafi, F., Nikuei, P., Haddadi, M., Zohrehvand, E., Oladnabi, M., Mohammadzadeh, A., Jafari, M.H., Akhtarkhavari, T., Gooshki, E.S., Haghdoost, A., Najafipour, R., Niestroj, L.M., Helwing, B., Gossmann, Y., Toliat, M.R., Malekzadeh, R., Nürnberg, P., Kahrizi, K., Najmabadi, H., and Nothnagel, M. (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet 15, e1008385.
Moosa, S., Yamamoto, G.L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C.A., Valadares, E.R., de Sousa, S.B., Maia, S., Saraiva, J., Honjo, R.S., Kim, C.A., Cabral de Menezes, H., Lausch, E., Lorini, P.V., Lamounier, A., Carniero, T.C.B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmüller, J., Nürnberg, P., Cavalcanti, D.P., Zabel, B., Warman, M.L., Bertola, D.R., Wollnik, B., and Netzer, C. (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am J Hum Genet 105, 836-843.
Murakami, Y., Nguyen, T.T.M., Baratang, N., Raju, P.K., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, N.F., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., van den Ende, J., Erger, F., Altmüller, J., Krumina, Z., Strautmanis, J., Inashkina, I., Stavusis, J., El-Gharbawy, A., Sebastian, J., Puri, R.D., Kulshrestha, S., Verma, I.C., Maier, E.M., Haack, T.B., Israni, A., Baptista, J., Gunning, A., Rosenfeld, J.A., Liu, P., Joosten, M., Rocha, M.E., Hashem, M.O., Aldhalaan, H.M., Alkuraya, F.S., Miyatake, S., Matsumoto, N., Krawitz, P.M., Rossignol, E., Kinoshita, T., and Campeau, P.M. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet 105, 384-394.
Niestroj, L.M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M.J., Klein, K.M., Beschorner, R., Weber, Y.G., Blümcke, I., and Lal, D. (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur J Hum Genet 27, 1738-1744.
Ozieblo, D., Sarosiak, A., Leja, M.L., Budde, B.S., Tacikowska, G., Di Donato, N., Bolz, H.J., Nürnberg, P., Skarzynski, H., and Oldak, M. (2019). First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. J Transl Med 17, 351.
Pauli, S., Altmüller, J., Schröder, S., Ohlenbusch, A., Dreha-Kulaczewski, S., Bergmann, C., Nürnberg, P., Thiele, H., Li, Y., Wollnik, B., and Brockmann, K. (2019). Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet 56, 261-264.
Pérez-Palma, E., Gramm, M., Nürnberg, P., May, P., and Lal, D. (2019). Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. Nucleic Acids Res 47, W99-W105.
Perlee, D., de Vos, A.F., Scicluna, B.P., Mancheño, P., de la Rosa, O., Dalemans, W., Nürnberg, P., Lombardo, E., and van der Poll, T. (2019). Human Adipose-Derived Mesenchymal Stem Cells Modify Lung Immunity and Improve Antibacterial Defense in Pneumosepsis Caused by Klebsiella pneumoniae. Stem Cells Transl Med 8, 785-796.
Perne, C., Peters, S., Spier, I., Hurpaopan, S., Grimm, C., Altmuller, J., Hillmer, A., Thiele, H., Moslein, G., Odenthal, M., Adam, R., Kirfel, J., Peifer, M., Schweiger, M., and Aretz, S. (2019). Variant profiling of colorectal adenomas from patients with MSH3-related adenomatous polyposis. Eur J Hum Genet 27 2, 1583-1583.
Perrech, M., Dreher, L., Röhn, G., Stavrinou, P., Krischek, B., Toliat, M., Goldbrunner, R., and Timmer, M. (2019). Qualitative and Quantitative Analysis of IDH1 Mutation in Progressive Gliomas by Allele-Specific qPCR and Western Blot Analysis. Technol Cancer Res Treat 18, 1533033819828396.
Peters, S., Trueck, C., Altmueller, J., Kayser, K., Mangold, E., Adam, R., Thiele, H., Spier, I., and Aretz, S. (2019). Exome sequencing identified potential candidate genes for serrated polyposis syndrome. Eur J Hum Genet 27 1, 465-465.
Peters, S., Trueck, C., Perne, C., Adam, R., Altmueller, J., Thiele, H., Spier, I., and Aretz, S. (2019). Exome sequencing identified potential causative candidate genes for serrated polyposis syndrome. Eur J Hum Genet 27 2, 1546-1546.
Plank, R., Yealland, G., Miceli, E., Lima Cunha, D., Graff, P., Thomforde, S., Gruber, R., Moosbrugger-Martinz, V., Eckl, K., Calderón, M., Hennies, H.C., and Hedtrich, S. (2019). Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents. J Invest Dermatol 139, 1191-1195.
Prasetyanti, P.R., van Hooff, S.R., van Herwaarden, T., de Vries, N., Kalloe, K., Rodermond, H., van Leersum, R., de Jong, J.H., Franitza, M., Nürnberg, P., Todaro, M., Stassi, G., and Medema, J.P. (2019). Capturing colorectal cancer inter-tumor heterogeneity in patient-derived xenograft (PDX) models. Int J Cancer 144, 366-371.
Preising, M.N., Görg, B., Friedburg, C., Qvartskhava, N., Budde, B.S., Bonus, M., Toliat, M.R., Pfleger, C., Altmüller, J., Herebian, D., Beyer, M., Zöllner, H.J., Wittsack, H.J., Schaper, J., Klee, D., Zechner, U., Nürnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., Häussinger, D., and Bolz, H.J. (2019). Biallelic mutation of human encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J 33, 11507-11527.
Prüss, H., Gessner, G., Heinemann, S.H., Rüschendorf, F., Ruppert, A.K., Schulz, H., Sander, T., and Rimpau, W. (2019). Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel Loss-of-Function Mutation. Front Neurol 10, 648.
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V.C., Olfe, J., Roser, E., Seggewies, F.S., Mahlmann, A., Hempel, M., Hartmann, M.J., Hillebrand, M., Wieczorek, D., Volk, A.E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T.S., von Kodolitsch, Y., Kutsche, K., and Rosenberger, G. (2019). Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med 21, 1832-1841.
Romano, M., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmuller, J., Nurnberg, P., Ellwanger, J., Gambon, R., Baumer, A., Kohlschmidt, N., Metze, D., Holdenrieder, S., Paus, R., Lutjohann, D., Frank, J., Geyer, M., Bertolini, M., Kokordelis, P., and Betz, R.C. (2019). Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex. Eur J Hum Genet 27 2, 1282-1283.
Sander, T. (2019). ME2 association analysis in adolescent onset genetic generalized epilepsies. Epilepsia 60, 1999-2000.
Schenk, A., Koliamitra, C., Bauer, C.J., Schier, R., Schweiger, M.R., Bloch, W., and Zimmer, P. (2019). Impact of Acute Aerobic Exercise on Genome-Wide DNA-Methylation in Natural Killer Cells-A Pilot Study. Genes (Basel) 10.
Schneider, S., Hilger, A.C., Thiele, H., Altmuller, J., Muller, A., and Reutter, H. (2019). Genetic Drivers of Congenital Chylothoraces. Eur J Hum Genet 27 2, 1248-1248.
Schulz, H., Ruppert, A.K., Zara, F., Madia, F., Iacomino, M., S Vari, M., Balagura, G., Minetti, C., Striano, P., Bianchi, A., Marini, C., Guerrini, R., Weber, Y.G., Becker, F., Lerche, H., Kapser, C., Schankin, C.J., Kunz, W.S., Møller, R.S., Oliver, K.L., Bellows, S.T., Mullen, S.A., Berkovic, S.F., Scheffer, I.E., Caglayan, H., Ozbek, U., Hoffmann, P., Schramm, S., Tsortouktzidis, D., Becker, A.J., and Sander, T. (2019). No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia 60, e31-e36.
Taylor, J.L., Debost, J.P.G., Morton, S.U., Wigdor, E.M., Heyne, H.O., Lal, D., Howrigan, D.P., Bloemendal, A., Larsen, J.T., Kosmicki, J.A., Weiner, D.J., Homsy, J., Seidman, J.G., Seidman, C.E., Agerbo, E., McGrath, J.J., Mortensen, P.B., Petersen, L., Daly, M.J., and Robinson, E.B. (2019). Paternal-age-related de novo mutations and risk for five disorders. Nat Commun 10, 3043.
Ullah, I., Kakar, N., Schrauwen, I., Hussain, S., Chakchouk, I., Liaqat, K., Acharya, A., Wasif, N., Santos-Cortez, R.L.P., Khan, S., Aziz, A., Lee, K., Couthouis, J., Horn, D., Kragesteen, B.K., Spielmann, M., Thiele, H., Nickerson, D.A., Bamshad, M.J., Gitler, A.D., Ahmad, J., Ansar, M., Borck, G., Ahmad, W., and Leal, S.M. (2019). Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600.
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A.B., Gerard, M., Bramswig, N.C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., Low, K., Weber, A., Wenzel, M., Altmuller, J., Li, Y., Wollnik, B., Hoganson, G., Plona, M., Cho, M.T., Thiel, C.T., Ludecke, H., Strom, T.M., Calpena, E., Wilkie, A.O.M., Wieczorek, D., Engel, F.B., Reis, A., and Deciphering Dev Disorders, S. (2019). Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Eur J Hum Genet 27 1, 805-806.
Vidaki, A., Kayser, M., and Nothnagel, M. (2019). Unsupported claim of significant discrimination between monozygotic twins from multiple pairs based on three age-related DNA methylation markers. Forensic Sci Int Genet 39, e1-e2.
Vidal, E.A., Moyano, T.C., Bustos, B.I., Pérez-Palma, E., Moraga, C., Riveras, E., Montecinos, A., Azócar, L., Soto, D.C., Vidal, M., Di Genova, A., Puschel, K., Nürnberg, P., Buch, S., Hampe, J., Allende, M.L., Cambiazo, V., González, M., Hodar, C., Montecino, M., Muñoz-Espinoza, C., Orellana, A., Reyes-Jara, A., Travisany, D., Vizoso, P., Moraga, M., Eyheramendy, S., Maass, A., De Ferrari, G.V., Miquel, J.F., and Gutiérrez, R.A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Sci Rep 9, 2132.
Vogelmann, S., Kleinheinz, K., Altmuller, J., Thiele, H., Nurnberg, P., Schlesner, M., Klapper, W., Bruggemann, M., Siebert, R., Wagener, R., and Oschlies, I. (2019). Genetic Characterization of two Variants of the primary cutaneous Follicle Center Lymphoma. J Dtsch Dermatol Ges 17 1, 1-2.
Wagener, R., Seufert, J., Raimondi, F., Bens, S., Kleinheinz, K., Nagel, I., Altmüller, J., Thiele, H., Hübschmann, D., Kohler, C.W., Nürnberg, P., Au-Yeung, R., Burkhardt, B., Horn, H., Leoncini, L., Jaffe, E.S., Ott, G., Rymkiewicz, G., Schlesner, M., Russell, R.B., Klapper, W., and Siebert, R. (2019). The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood 133, 962-966.
Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N.T., Aprea, I., Dougherty, G.W., Pennekamp, P., Kaiser, T., Mitchison, H.M., Hogg, C., Carr, S.B., Zariwala, M.A., Ferkol, T., Leigh, M.W., Davis, S.D., Atkinson, J., Dutcher, S.K., Knowles, M.R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D.J., and Omran, H. (2019). De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet 105, 1030-1039.
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horvath, J., Niederacher, D., Arnold, N., Kaulfuss, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S., Lichey, N., Altmuller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nurnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E., and Hauke, J. (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Eur J Hum Genet 27 2, 1562-1563.
Weber-Lassalle, N., Borde, J., Weber-Lassalle, K., Horváth, J., Niederacher, D., Arnold, N., Kaulfuß, S., Ernst, C., Paul, V.G., Honisch, E., Klaschik, K., Volk, A.E., Kubisch, C., Rapp, S., Lichey, N., Altmüller, J., Lepkes, L., Pohl-Rescigno, E., Thiele, H., Nürnberg, P., Larsen, M., Richters, L., Rhiem, K., Wappenschmidt, B., Engel, C., Meindl, A., Schmutzler, R.K., Hahnen, E., and Hauke, J. (2019). Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res 21, 55.
Wolking, S., May, P., Mei, D., Møller, R.S., Balestrini, S., Helbig, K.L., Altuzarra, C.D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B.A., Numis, A., Cilio, M.R., Van Paesschen, W., Svendsen, L.L., Oates, S., Hughes, E., Goyal, S., Brown, K., Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A.T., Vavoulis, D.V., Knight, S.J.L., Taylor, J.C., Canevini, M.P., Darra, F., Gavrilova, R.H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E.W., Kluger, G.J., Lowenstein, D.H., Weckhuysen, S., Pal, D.K., Helbig, I., Guerrini, R., Thomas, R.H., Rees, M.I., Lesca, G., Sisodiya, S.M., Weber, Y.G., Lal, D., Marini, C., Lerche, H., and Schubert, J. (2019). Clinical spectrum of -related epileptic disorders. Neurology 92, e1238-e1249.
Ying, Z., Wang, I., Blümcke, I., Bulacio, J., Alexopoulos, A., Jehi, L., Bingaman, W., Gonzalez-Martinez, J., Kobow, K., Niestroj, L.M., Lal, D., Koelble, K., and Najm, I. (2019). A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy. Epileptic Disord 21, 65-77.
Zhao, L., He, Z., Zhang, D., Wang, G.T., Renton, A.E., Vardarajan, B.N., Nothnagel, M., Goate, A.M., Mayeux, R., and Leal, S.M. (2019). A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. Am J Hum Genet 105, 822-835.