Protonation-Dependent Sequencing of 5‑Formylcytidine in RNA

by Link, Courtney N, Thalalla Gamage, Supuni, Gallimore, Diamond, Kopajtich, Robert, Evans, Christine, Nance, Samantha, Fox, Stephen D, Andresson, Thorkell, Chari, Raj, Ivanic, Joseph, Prokisch, Holger, Meier, Jordan L
Published in Biochemistry (Easton)

Novel biomarkers for pre‐diabetes identified by metabolomics

by Wang‐Sattler, Rui, Yu, Zhonghao, Herder, Christian, Messias, Ana C, Floegel, Anna, He, Ying, Heim, Katharina, Campillos, Monica, Holzapfel, Christina, Thorand, Barbara, Grallert, Harald, Xu, Tao, Bader, Erik, Huth, Cornelia, Mittelstrass, Kirstin, Döring, Angela, Meisinger, Christa, Gieger, Christian, Prehn, Cornelia, Roemisch‐Margl, Werner, Carstensen, Maren, Xie, Lu, Yamanaka‐Okumura, Hisami, Xing, Guihong, Ceglarek, Uta, Thiery, Joachim, Giani, Guido, Lickert, Heiko, Lin, Xu, Li, Yixue, Boeing, Heiner, Joost, Hans‐Georg, de Angelis, Martin Hrabé, Rathmann, Wolfgang, Suhre, Karsten, Prokisch, Holger, Peters, Annette, Meitinger, Thomas, Roden, Michael, Wichmann, H‐Erich, Pischon, Tobias, Adamski, Jerzy, Illig, Thomas
Published in Molecular systems biology

The External Calcium-dependent NADPH Dehydrogenase from Neurospora crassa Mitochondria

by Melo, Ana M.P., Duarte, Margarida, Møller, Ian M., Prokisch, Holger, Dolan, Patricia L., Pinto, Laura, Nelson, Mary Anne, Videira, Arnaldo
Published in The Journal of biological chemistry

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

by Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia B, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Published in Brain (London, England : 1878)

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

by Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.
Published in American journal of human genetics

ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome

by Straccia, Giulia, Reale, Chiara, Castellani, Massimo, Colangelo, Isabel, Orunesu, Eva, Meoni, Sara, Moro, Elena, Krack, Paul, Prokisch, Holger, Zech, Michael, Romito, Luigi Michele, Garavaglia, Barbara
Published in Parkinsonism & related disorders

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

by Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel
Published in American journal of human genetics

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

by Gloeckner, Christian Johannes, Kinkl, Norbert, Schumacher, Annette, Braun, Ralf J., O'Neill, Eric, Meitinger, Thomas, Kolch, Walter, Prokisch, Holger, Ueffing, Marius
Published in Human molecular genetics

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

by Drovandi, Stefania, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Emma, Francesco, Gulhan, Bora, Boyer, Olivia, Trautmann, Agnes, Ziętkiewicz, Szymon, Xu, Hong, Shen, Qian, Rao, Jia, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Tsygin, Alexey N., Ng, Kar-Hui, Fomina, Svitlana, Benetti, Elisa, Aurelle, Manon, Prikhodina, Larisa, Schijvens, Anne M., Tabatabaeifar, Mansoureh, Jankowski, Maciej, Baiko, Sergey, Mao, Jianhua, Feng, Chunyue, Deng, Fang, Rousset-Rouviere, Caroline, Stańczyk, Małgorzata, Bałasz-Chmielewska, Irena, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Anarat, Ali, Benz, Marcus R., Talebi, Saeed, Hooman, Nakysa, Ariceta, Gema, Baiko, Sergey, Serna Higuita, Lina Maria, Schaefer, Franz, Trautmann, Agnes, Tabatabaeifar, Mansoureh, Gheissari, Alaleh, Hooman, Nakysa, Benetti, Elisa, Emma, Francesco, Nigmatullina, Nazym, Lipska-Ziętkiewicz, Beata S., Bałasz-Chmielewska, Irena, Tkaczyk, Marcin, Stańczyk, Małgorzata, Borzecka, Halina, Tsygin, Alexey N., Prikhodina, Larisa, Bogdanovic, Radovan, Anarat, Ali, Ozaltin, Fatih, Mir, Sevgi, Fomina, Svitlana, Klopstock, Thomas, Prokisch, Holger, Kornblum, Cornelia, Xu, Hong, Shen, Qian, Rao, Jia, Liu, Cui-Hua, Sun, Shu-Zhen, Deng, Fang, Dong, Yang, Wang, Xiao-Wen, Luan, Jiang-Wei, Schaefer, Franz
Published in Kidney international

An Integrated Epigenetic and Transcriptomic Analysis Reveals Distinct Tissue-Specific Patterns of DNA Methylation Associated with Atopic Dermatitis

by Rodríguez, Elke, Baurecht, Hansjörg, Wahn, Anna Franziska, Kretschmer, Anja, Hotze, Melanie, Zeilinger, Sonja, Klopp, Norman, Illig, Thomas, Schramm, Katharina, Prokisch, Holger, Kühnel, Brigitte, Gieger, Christian, Harder, Jürgen, Cifuentes, Liliana, Novak, Natalija, Weidinger, Stephan
Published in Journal of investigative dermatology

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

by Dusi, Sabrina, Valletta, Lorella, Haack, Tobias B., Tsuchiya, Yugo, Venco, Paola, Pasqualato, Sebastiano, Goffrini, Paola, Tigano, Marco, Demchenko, Nikita, Wieland, Thomas, Schwarzmayr, Thomas, Strom, Tim M., Invernizzi, Federica, Garavaglia, Barbara, Gregory, Allison, Sanford, Lynn, Hamada, Jeffrey, Bettencourt, Conceição, Houlden, Henry, Chiapparini, Luisa, Zorzi, Giovanna, Kurian, Manju A., Nardocci, Nardo, Prokisch, Holger, Hayflick, Susan, Gout, Ivan, Tiranti, Valeria
Published in American journal of human genetics

Variants in ATP5F1B are associated with dominantly inherited dystonia

by Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele
Published in Brain (London, England : 1878)

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

by Heeringa, Saskia F, Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J, Ji, Ziming, Xie, Letian X, Salviati, Leonardo, Hurd, Toby W, Vega-Warner, Virginia, Killen, Paul D, Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S, McLaughlin, Heather M, Airik, Rannar, Vlangos, Christopher N, Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A, Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, Varpizen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A, Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F, Wiggins, Roger C, Faul, Christian, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation

Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype

by Svorenova, Tatiana, Romito, Luigi M., Colangelo, Isabel, Han, Vladimir, Jech, Robert, Prokisch, Holger, Winkelmann, Juliane, Skorvanek, Matej, Garavaglia, Barbara, Zech, Michael
Published in Parkinsonism & related disorders

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

by HAYF LICK, Susan J, KRUER, Michael C, DANDU, Vasuki H, NARDOCCI, Nardo, ZORZI, Giovanna, DUNAWAY, Todd, TARNOPOLSKY, Mark, SKINNER, Steven, HOLDEN, Kenton R, FRUCHT, Steven, HANSPAL, Era, SCHRANDER-STUMPEL, Connie, GREGORY, Allison, MIGNOT, Cyril, HERON, Delphine, SAUNDERS, Dawn E, KAMINSKA, Margaret, LIN, Jean-Pierre, LASCELLES, Karine, CUNO, Stephan M, MEYER, Esther, GARAVAGLIA, Barbara, BHATIA, Kailash, HAACK, Tobias B, DE SILVA, Rajith, CRISP, Sarah, LUNT, Peter, CAREY, Martyn, HARDY, John, MEITINGER, Thomas, PROKISCH, Holger, HOGARTH, Penelope, KURIAN, Manju A, HOULDEN, Henry H, ANDERSON, James, BODDAERT, Nathalie, SANFORD, Lynn, HARIK, Sami I
Published in Brain (London, England : 1878)

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

by Kremer, Laura S., Distelmaier, Felix, Alhaddad, Bader, Hempel, Maja, Iuso, Arcangela, Küpper, Clemens, Mühlhausen, Chris, Kovacs-Nagy, Reka, Satanovskij, Robin, Graf, Elisabeth, Berutti, Riccardo, Eckstein, Gertrud, Durbin, Richard, Sauer, Sascha, Hoffmann, Georg F., Strom, Tim M., Santer, René, Meitinger, Thomas, Klopstock, Thomas, Prokisch, Holger, Haack, Tobias B.
Published in American journal of human genetics

Reply to Li and Colleagues

by Kratz, Christian P, Smirnov, Dmitrii, Autry, Robert, Jäger, Natalie, Waszak, Sebastian M, Großhennig, Anika, Berutti, Riccardo, Wendorff, Mareike, Hainaut, Pierre, Pfister, Stefan M, Prokisch, Holger, Ripperger, Tim, Malkin, David
Published in JNCI : Journal of the National Cancer Institute

A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking

by Huan, Tianxiao, Joehanes, Roby, Schurmann, Claudia, Schramm, Katharina, Pilling, Luke C, Peters, Marjolein J, Mägi, Reedik, DeMeo, Dawn, O'Connor, George T, Ferrucci, Luigi, Teumer, Alexander, Homuth, Georg, Biffar, Reiner, Völker, Uwe, Herder, Christian, Waldenberger, Melanie, Peters, Annette, Zeilinger, Sonja, Metspalu, Andres, Hofman, Albert, Uitterlinden, André G, Hernandez, Dena G, Singleton, Andrew B, Bandinelli, Stefania, Munson, Peter J, Lin, Honghuang, Benjamin, Emelia J, Esko, Tõnu, Grabe, Hans J, Prokisch, Holger, van Meurs, Joyce B J, Melzer, David, Levy, Daniel
Published in Human molecular genetics

Reply to Evans and Woodward

by Kratz, Christian P, Smirnov, Dmitrii, Autry, Robert, Jäger, Natalie, Waszak, Sebastian M, Großhennig, Anika, Berutti, Riccardo, Wendorff, Mareike, Hainaut, Pierre, Pfister, Stefan M, Prokisch, Holger, Ripperger, Tim, Malkin, David
Published in JNCI : Journal of the National Cancer Institute

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

by Van Bergen, Nicole J, Guo, Yiran, Rankin, Julia, Paczia, Nicole, Becker-Kettern, Julia, Kremer, Laura S, Pyle, Angela, Conrotte, Jean-François, Ellaway, Carolyn, Procopis, Peter, Prelog, Kristina, Homfray, Tessa, Baptista, Júlia, Baple, Emma, Wakeling, Matthew, Massey, Sean, Kay, Daniel P, Shukla, Anju, Girisha, Katta M, Lewis, Leslie E S, Santra, Saikat, Power, Rachel, Daubeney, Piers, Montoya, Julio, Ruiz-Pesini, Eduardo, Kovacs-Nagy, Reka, Pritsch, Martin, Ahting, Uwe, Thorburn, David R, Prokisch, Holger, Taylor, Robert W, Christodoulou, John, Linster, Carole L, Ellard, Sian, Hakonarson, Hakon
Published in Brain (London, England : 1878)