Institute of Human Genetics
Publications
- 2019
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
PEDIA: prioritization of exome data by image analysis
Hsieh, T-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S., Douzgou, S., Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C-E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E-K., Sznajer, Y., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., 12.2019, In: GENET MED. 21, 12, p. 2807-2814 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
Mühlstädt, K., De Backer, J., von Kodolitsch, Y., Kutsche, K., Muiño Mosquera, L., Brickwedel, J., Girdauskas, E., Mir, T. S., Mahlmann, A., Tsilimparis, N., Staebler, A., Schoof, L., Seidel, H., Berger, J., Bernhardt, A. M., Blankenberg, S., Kölbel, T., Detter, C., Szöcs, K. & Kaemmerer, H., 29.11.2019, In: J CLIN MED. 8, 12Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease
Benkert, J., Hess, S., Roy, S., Beccano-Kelly, D., Wiederspohn, N., Duda, J., Simons, C., Patil, K., Gaifullina, A., Mannal, N., Dragicevic, E., Spaich, D., Müller, S., Nemeth, J., Hollmann, H., Deuter, N., Mousba, Y., Kubisch, C., Poetschke, C., Striessnig, J., Pongs, O., Schneider, T., Wade-Martins, R., Patel, S., Parlato, R., Frank, T., Kloppenburg, P. & Liss, B., 08.11.2019, In: NAT COMMUN. 10, 1, p. 5094Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca, E., Posey, J. E., Bostwick, B., Liu, P., Gezdirici, A., Yesil, G., Coban Akdemir, Z., Bayram, Y., Harms, F. L., Meinecke, P., Alawi, M., Bacino, C. A., Sutton, V. R., Kortüm, F. & Lupski, J. R., 10.2019, In: AM J MED GENET A. 179, 10, p. 2056-2066 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Schneeberger, P. E., Bierhals, T., Neu, A., Hempel, M. & Kutsche, K., 29.08.2019, In: SCI REP-UK. 9, 1, p. 12516Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus, A., Kortüm, F., Kleefstra, T., Stray-Pedersen, A., Đukić, D., Murakami, Y., Gerstner, T., van Bokhoven, H., Iqbal, Z., Horn, D., Kinoshita, T., Hempel, M. & Krawitz, P. M., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 395-402 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
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. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hereditary Syndromes with Signs of Premature Aging
Lessel, D. & Kubisch, C., 22.07.2019, In: DTSCH ARZTEBL INT. 116, 29-30, p. 489-496 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication
Halder, S., Torrecilla, I., Burkhalter, M. D., Popović, M., Fielden, J., Vaz, B., Oehler, J., Pilger, D., Lessel, D., Wiseman, K., Singh, A. N., Vendrell, I., Fischer, R., Philipp, M. & Ramadan, K., 17.07.2019, In: NAT COMMUN. 10, 1, p. 3142Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
In Reply - Exomesequencing in children
Hempel, M., 08.07.2019, In: DTSCH ARZTEBL INT. 116, 27-28, p. 487Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
Filatova, A., Rey, L. K., Lechler, M. B., Schaper, J., Hempel, M., Posmyk, R., Szczaluba, K., Santen, G. W. E., Wieczorek, D. & Nuber, U. A., 04.07.2019, In: NAT COMMUN. 10, 1, p. 2966Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan, D., Bayram, Y., Gunes, N., Coban Akdemir, Z., Shukla, A., Bierhals, T., Tabakci, B., Sahin, Y., Gezdirici, A., Fatih, J. M., Gulec, E. Y., Yesil, G., Punetha, J., Ocak, Z., Grochowski, C. M., Karaca, E., Albayrak, H. M., Radhakrishnan, P., Erdem, H. B., Sahin, I., Yildirim, T., Bayhan, I. A., Bursali, A., Elmas, M., Yuksel, Z., Ozdemir, O., Silan, F., Yildiz, O., Yesilbas, O., Isikay, S., Balta, B., Gu, S., Jhangiani, S. N., Doddapaneni, H., Hu, J., Muzny, D. M., Baylor Hopkins Center for Mendelian Genomics, Boerwinkle, E., Gibbs, R. A., Tsiakas, K., Hempel, M., Girisha, K. M., Gul, D., Posey, J. E., Elcioglu, N. H., Tuysuz, B. & Lupski, J. R., 03.07.2019, In: AM J HUM GENET. 105, 1, p. 132-150 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
Kloth, K., Renner, S., Burmester, G., Steinemann, D., Pabst, B., Lorenz, B., Simon, R., Kolbe, V., Hempel, M. & Rosenberger, G., 07.2019, In: CLIN GENET. 96, 1, p. 85-90 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N., Kutsche, K. & Pohl, S., 07.2019, In: HUM MUTAT. 40, 7, p. 842-864 23 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
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. & Kutsche, K., 06.06.2019, In: AM J HUM GENET. 104, 6, p. 1139-1157 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles
Fischer, A. W., Albers, K., Schlein, C., Sass, F., Krott, L. M., Schmale, H., Gordts, P. L. S. M., Scheja, L. & Heeren, J., 01.06.2019, In: BBA-MOL BASIS DIS. 1865, 6, p. 1592-1603 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth, K., Bierhals, T., Johannsen, J., Harms, F. L., Juusola, J., Johnson, M. C., Grange, D. K. & Kutsche, K., 06.2019, In: HUM GENET. 138, 6, p. 625-634 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
Kim, J-H., Park, E. Y., Chitayat, D., Stachura, D. L., Schaper, J., Lindstrom, K., Jewett, T., Wieczorek, D., Draaisma, J. M., Sinnema, M., Hoeberigs, C., Hempel, M., Bachman, K. K., Seeley, A. H., Stone, J. K., Kong, H. K., Vukadin, L., Richard, A., Shinde, D. N., McWalter, K., Si, Y. C., Douglas, G., Lim, S-T., Vissers, L. E. L. M., Lemaire, M. & Ahn, E-Y. E., 06.2019, In: KIDNEY INT. 95, 6, p. 1494-1504 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
Burkhalter, M. D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M. S., Donow, C., Angenendt, M., Competence Network for Congenital Heart Defects Investigators, Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S. S., Ware, S. M. & Philipp, M., 16.05.2019, In: J CLIN INVEST. 129, 7, p. 2841-2855 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., DDD Study, Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faivre, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 02.05.2019, In: NAT COMMUN. 10, 1, p. 2079Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis
Brčić, L., Barić, A., Gračan, S., Brekalo, M., Kaličanin, D., Gunjača, I., Torlak Lovrić, V., Tokić, S., Radman, M., Škrabić, V., Miljković, A., Kolčić, I., Štefanić, M., Glavaš-Obrovac, L., Lessel, D., Polašek, O., Zemunik, T., Barbalić, M., Punda, A. & Boraska Perica, V., 05.2019, In: J ENDOCRINOL INVEST. 42, 5, p. 567-576 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
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. & Hauke, J., 29.04.2019, In: BREAST CANCER RES. 21, 1, p. 55Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
Kloth, K., Synofzik, M., Kernstock, C., Schimpf-Linzenbold, S., Schuettauf, F., Neu, A., Wissinger, B. & Weisschuh, N., 08.04.2019, In: BMC MED GENET. 20, 1, p. 62Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Marbach, F., Rustad, C. F., Riess, A., Đukić, 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. & Netzer, C., 04.04.2019, In: AM J HUM GENET. 104, 4, p. 749-757 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors
AlDubayan, S. H., Pyle, L. C., Gamulin, M., Kulis, T., Moore, N. D., Taylor-Weiner, A., Hamid, A. A., Reardon, B., Wubbenhorst, B., Godse, R., Vaughn, D. J., Jacobs, L. A., Meien, S., Grgic, M., Kastelan, Z., Markt, S. C., Damrauer, S. M., Rader, D. J., Kember, R. L., Loud, J. T., Kanetsky, P. A., Greene, M. H., Sweeney, C. J., Kubisch, C., Nathanson, K. L., Van Allen, E. M., Stewart, D. R., Lessel, D. & Regeneron Genetics Center (RGC) Research Team, 01.04.2019, In: JAMA ONCOL. 5, 4, p. 514-522 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., DDD Study, Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A. & Newbury-Ecob, R., 04.2019, In: GENET MED. 21, 4, p. 850-860 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha, K. M., von Elsner, L., Neethukrishna, K., Muranjan, M., Shukla, A., Bhavani, G. S., Nishimura, G., Kutsche, K. & Mortier, G., 03.2019, In: HUM MUTAT. 40, 3, p. 299-309 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effects of Pharmacological Thermogenic Adipocyte Activation on Metabolism and Atherosclerotic Plaque Regression
Worthmann, A., Schlein, C., Berbée, J. F. P., Rensen, P. C. N., Heeren, J. & Bartelt, A., 23.02.2019, In: NUTRIENTS. 11, 2Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije, R., Kupchik, G. S., Isidor, B., Kroes, H. Y., Lynch, S. A., Hawkes, L., Hempel, M., Gelb, B. D., Ghoumid, J., D'Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T. D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T. M., van Binsbergen, E., Devriendt, K., Breckpot, J. & DDD Study, 02.2019, In: EUR J HUM GENET. 27, 2, p. 278-290 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inflammatory Biomarkers and Clinical Judgment in the Emergency Diagnosis of Urgent Abdominal Pain
BASEL VII Investigators, 02.2019, In: CLIN CHEM. 65, 2, p. 302-312 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
Verde, F., Steinacker, P., Weishaupt, J. H., Kassubek, J., Oeckl, P., Halbgebauer, S., Tumani, H., von Arnim, C. A. F., Dorst, J., Feneberg, E., Mayer, B., Müller, H-P., Gorges, M., Rosenbohm, A., Volk, A. E., Silani, V., Ludolph, A. C. & Otto, M., 02.2019, In: J NEUROL NEUROSUR PS. 90, 2, p. 157-164 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
Diehl-Schmid, J., Licata, A., Goldhardt, O., Förstl, H., Yakushew, I., Otto, M., Anderl-Straub, S., Beer, A., Ludolph, A. C., Landwehrmeyer, G. B., Levin, J., Danek, A., Fliessbach, K., Spottke, A., Fassbender, K., Lyros, E., Prudlo, J., Krause, B. J., Volk, A., Edbauer, D., Schroeter, M. L., Drzezga, A., Kornhuber, J., Lauer, M., FTLDc Study Group & Grimmer, T., 31.01.2019, In: TRANSL PSYCHIAT. 9, 1, p. 54Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Shared heritability and functional enrichment across six solid cancers
Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y-C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K-T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H-J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H-E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., 25.01.2019, In: NAT COMMUN. 10, 1, p. 431Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
Schob, C., Morellini, F., Ohana, O., Bakota, L., Hrynchak, M. V., Brandt, R., Brockmann, M. D., Cichon, N., Hartung, H., Hanganu-Opatz, I. L., Kraus, V., Scharf, S., Herrmans-Borgmeyer, I., Schweizer, M., Kuhl, D., Wöhr, M., Vörckel, K. J., Calzada-Wack, J., Fuchs, H., Gailus-Durner, V., Hrabě de Angelis, M., Garner, C. C., Kreienkamp, H-J. & Kindler, S., 16.01.2019, In: TRANSL PSYCHIAT. 9, 1, p. 7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia
Tunc, S., Denecke, J., Olschewski, L., Bäumer, T., Münchau, A., Lessel, D. & Lohmann, K., 15.01.2019, In: J NEUROL SCI. 396, p. 199-201 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
Adams, C. D., Richmond, R., Ferreira, D. L. S., Spiller, W., Tan, V., Zheng, J., Würtz, P., Donovan, J., Hamdy, F., Neal, D., Lane, J. A., Smith, G. D., Relton, C., Eeles, R. A., Haiman, C. A., Kote-Jarai, ZS., Schumacher, F. R., Olama, A. A. A., Benlloch, S., Muir, K., Berndt, S. I., Conti, D. V., Wiklund, F., Chanock, S. J., Gapstur, S., Stevens, V. L., Tangen, C. M., Batra, J., Clements, J. A., Gronberg, H., Pashayan, N., Schleutker, J., Albanes, D., Wolk, A., West, C. M. L., Mucci, L. A., Cancel-Tassin, G., Koutros, S., Sorensen, K. D., Maehle, L., Travis, R. C., Hamilton, R. J., Ingles, S. A., Rosenstein, B. S., Lu, Y-J., Giles, G. G., Kibel, A. S., Vega, A., Kogevinas, M., Penney, K. L., Park, J. Y., Stanford, J. L., Cybulski, C., Nordestgaard, B. G., Brenner, H., Maier, C., Kim, J., John, E. M., Teixeira, M. R., Neuhausen, S. L., De Ruyck, K., Razack, A., Newcomb, L. F., Lessel, D., Kaneva, R. P., Usmani, N., Claessens, F., Townsend, P. A., Dominguez, M. G., Roobol, M. J., Menegaux, F., Khaw, K-T., Cannon-Albright, L. A., Pandha, H., Thibodeau, S. N., Martin, R. M. & PRACTICAL Consortium, 01.2019, In: CANCER EPIDEM BIOMAR. 28, 1, p. 208-216 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
Oeckl, P., Weydt, P., Steinacker, P., Anderl-Straub, S., Nordin, F., Volk, A. E., Diehl-Schmid, J., Andersen, P. M., Kornhuber, J., Danek, A., Fassbender, K., Fliessbach, K., Jahn, H., Lauer, M., Müller, K., Knehr, A., Prudlo, J., Schneider, A., Thal, D. R., Yilmazer-Hanke, D., Weishaupt, J. H., Ludolph, A. C., Otto, M. & German Consortium for Frontotemporal Lobar Degeneration, 01.2019, In: J NEUROL NEUROSUR PS. 90, 1, p. 4-10 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biochemie hoch2: und Molekularbiologie
Hampe, W., Fluhrer, R., Kouz, K., Unterleitner, C., Averbeck, B., Dankwardt, A., Duszenko, M., Eberharter, A., Harter, C., Höppner, S., Kindler, S., Kreienkamp, H-J., Korber, P., Neumann, S., Nielsen, P., Salat, D., Schling, P. & Wild-Bode, C., 2019, 1 ed.Research output: Book/anthology › Other book › Research › peer-review
Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
Engel, N. W., Schliffke, S., Schüller, U., Frenzel, C., Bokemeyer, C., Kubisch, C. & Lessel, D., 2019, In: FRONT ONCOL. 9, p. 420Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
P539 - Case-control study of cardiovascular outcome of Loeys-Dietz versus Marfan syndrome
Szöcs, K., Mühlstädt, K., De Backer, J., Girdauskas, E., Kutsche, K., Blankenberg, S. & von Kodolitsch, Y., 2019, In: CLIN RES CARDIOL. 2019, 108 Supl 2Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
- 2018
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, L., Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 06.12.2018, In: AM J HUM GENET. 103, 6, p. 976-983 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Lessel, D., Ozel, A. B., Campbell, S. E., Saadi, A., Arlt, M. F., McSweeney, K. M., Plaiasu, V., Szakszon, K., Szőllős, A., Rusu, C., Rojas, A. J., Lopez-Valdez, J., Thiele, H., Nürnberg, P., Nickerson, D. A., Bamshad, M. J., Li, J. Z., Kubisch, C., Glover, T. W. & Gordon, L. B., 12.2018, In: HUM GENET. 137, 11-12, p. 921-939 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Yesodharan, D., Büschenfelde, U. M. Z., Kutsche, K., Mohandas Nair, K. & Nampoothiri, S., 12.2018, In: INDIAN J PEDIATR. 85, 12, p. 1067-1072 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A., Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Koopmans, M., Brilstra, E. H., Monroe, G. R., van Gassen, K. L. I., van Binsbergen, E., Newbury-Ecob, R., Bownass, L., Bader, I., Mayr, J. A., Wortmann, S. B., Jakielski, K. J., Strand, E. A., Kloth, K., Bierhals, T., DDD Study, Roberts, J. D., Petrovich, R. M., Machida, S., Kurumizaka, H., Lelieveld, S., Pfundt, R., Jansen, S., Deriziotis, P., Faive, L., Thevenon, J., Assoum, M., Shriberg, L., Kleefstra, T., Brunner, H. G., Wade, P. A., Fisher, S. E. & Campeau, P. M., 05.11.2018, In: NAT COMMUN. 9, 1, p. 4619Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Matejcic, M., Saunders, E. J., Dadaev, T., Brook, M. N., Wang, K., Sheng, X., Olama, A. A. A., Schumacher, F. R., Ingles, S. A., Govindasami, K., Benlloch, S., Berndt, S. I., Albanes, D., Koutros, S., Muir, K., Stevens, V. L., Gapstur, S. M., Tangen, C. M., Batra, J., Clements, J., Gronberg, H., Pashayan, N., Schleutker, J., Wolk, A., West, C., Mucci, L., Kraft, P., Cancel-Tassin, G., Sorensen, K. D., Maehle, L., Grindedal, E. M., Strom, S. S., Neal, D. E., Hamdy, F. C., Donovan, J. L., Travis, R. C., Hamilton, R. J., Rosenstein, B., Lu, Y-J., Giles, G. G., Kibel, A. S., Vega, A., Bensen, J. T., Kogevinas, M., Penney, K. L., Park, J. Y., Stanford, J. L., Cybulski, C., Nordestgaard, B. G., Brenner, H., Maier, C., Kim, J., Teixeira, M. R., Neuhausen, S. L., De Ruyck, K., Razack, A., Newcomb, L. F., Lessel, D., Kaneva, R., Usmani, N., Claessens, F., Townsend, P. A., Dominguez, M. G., Roobol, M. J., Menegaux, F., Khaw, K-T., Cannon-Albright, L. A., Pandha, H., Thibodeau, S. N., Schaid, D. J., Wiklund, F., Chanock, S. J., Easton, D. F., Eeles, R. A., Kote-Jarai, Z., Conti, D. V., Haiman, C. A. & PRACTICAL Consortium, 05.11.2018, In: NAT COMMUN. 9, 1, p. 4616Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
Harms, F. L., Nampoothiri, S., Kortüm, F., Thomas, J., Panicker, V. V., Alawi, M., Altmüller, J., Yesodharan, D. & Kutsche, K., 11.2018, In: BRIT J DERMATOL. 179, 5, p. 1192-1194 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research