mitOmics

Publications

2020

Friederich, M. W., Elias, A. F., Kuster, A., Laugwitz, L., Larson, A. A., Landry, A. P., Ellwood-Digel, L., Mirsky, D. M., Dimmock, D., Haven, J., Jiang, H., MacLean, K. N., Styren, K., Schoof, J., Goujon, L., Lefrancois, T., Friederich, M., Coughlin, C. R., 2nd, Banerjee, R., Haack, T. B. and Van Hove, J. L. K. (2020). "Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease." J Inherit Metab Dis 43(5): 1024-1036. www.ncbi.nlm.nih.gov/pubmed/32160317.

Husain, R. A., Grimmel, M., Wagner, M., Hennings, J. C., Marx, C., Feichtinger, R. G., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M. C., Besse, A., Ng, A. C.-H., Chiang, D., Bolduc, F., Tafakhori, A., Mane, S., Firouzabadi, S. G., Huebner, A. K., Buchert, R., Beck-Woedl, S., Müller, A. J., Laugwitz, L., Nägele, T., Wang, Z.-Q., Strom, T. M., Sturm, M., Meitinger, T., Klockgether, T., Riess, O., Klopstock, T., Brandl, U., Hübner, C. A., Deschauer, M., Mayr, J. A., Bonnen, P. E., Krägeloh-Mann, I., Wortmann, S. B. and Haack, T. B. (2020). "Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia." American Journal of Human Genetics 107(2): 364–373. doi.org/10.1016/j.ajhg.2020.06.015.

Laugwitz, L., Buchert, R., Groeschel, S., Riess, A., Grimmel, M., Beck-Wödl, S., Sturm, M., Gohla, G., Döbler-Neumann, M., Krägeloh-Mann, I. and Haack, T. B. (2020). "Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?" Eur J Med Genet 63(7): 103938. doi.org/10.1016/j.ejmg.2020.103938.

Lenz, D., Smith, D. E. C., Crushell, E., Husain, R. A., Salomons, G. S., Alhaddad, B., Bernstein, J. A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T. B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J. R., Posey, J. E., Reynolds, C., Rosenfeld, J. A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B. H. R., Wortmann, S. B., Kölker, S., Hoffmann, G. F., Prokisch, H., Mendes, M. I. and Staufner, C. (2020). "Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1." Genet Med: 1–11. doi.org/10.1038/s41436-020-0904-4.

Park, J., Flores, B. R., Scherer, K., Kuepper, H., Rossi, M., Rupprich, K., Rautenberg, M., Deininger, N., Weichselbaum, A., Grimm, A., Sturm, M., Grasshoff, U., Delpire, E. and Haack, T. B. (2020). "De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy." J Med Genet 57(4): 283-288. jmg.bmj.com/content/early/2019/08/22/jmedgenet-2019-106273.abstract.

Perrier, S., Gauquelin, L., Fallet-Bianco, C., Dishop, M. K., Michell-Robinson, M. A., Tran, L. T., Guerrero, K., Darbelli, L., Srour, M., Petrecca, K., Renaud, D. L., Saito, M., Cohen, S., Leiz, S., Alhaddad, B., Haack, T. B., Tejera-Martin, I., Monton, F. I., Rodriguez-Espinosa, N., Pohl, D., Nageswaran, S., Grefe, A., Glamuzina, E. and Bernard, G. (2020). "Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy." Neurology Genetics 6(3). doi.org/10.1212/NXG.0000000000000425.

Pittis, A. A., Goh, V., Cebrian-Serrano, A., Wettmarshausen, J., Perocchi, F. and Gabaldon, T. (2020). "Discovery of EMRE in fungi resolves the true evolutionary history of the mitochondrial calcium uniporter." Nature Communications 11(1). doi.org/10.1038/s41467-020-17705-4.

Prilop, L., Buchert, R., Woerz, S., Gerloff, C., TB, H. and Zittel, S. (2020). "IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus." Parkinsonism Relat Disord. doi.org/10.1016/j.parkreldis.2020.03.030.

Regensburger, M., Minakaki, G., Kettwig, M., Huchzermeyer, C., Eisenhut, F., Haack, T. B., Kohl, Z. and Winkler, J. (2020). "Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa " MOVEMENT DISORDERS. doi.org/10.1002/mds.28106EarlyAccess:MAY2020DocumentType:Letter;EarlyAccess.

Traschütz, A., Schirinzi, T., Laugwitz, L., Murray, N. H., Bingman, C. A., Reich, S., Kern, J., Heinzmann, A., Vasco, G., Bertini, E., Zanni, G., Durr, A., Magri, S., Taroni, F., Malandrini, A., Baets, J., de Jonghe, P., de Ridder, W., Bereau, M., Demuth, S., Ganos, C., Basak, A. N., Hanagasi, H., Kurul, S. H., Bender, B., Schöls, L., Grasshoff, U., Klopstock, T., Horvath, R., van de Warrenburg, B., Burglen, L., Rougeot, C., Ewenczyk, C., Koenig, M., Santorelli, F. M., Anheim, M., Munhoz, R. P., Haack, T., Distelmaier, F., Pagliarini, D. J., Puccio, H. and Synofzik, M. (2020). "Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients." Ann Neurol. onlinelibrary.wiley.com/doi/full/10.1002/ana.25751.

2019

Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintans, B., Ordonez-Ugalde, A., Cortese, A., Courel, S., Abreu, L., Powell, E., Danzi, M., Martuscelli, N. B., Bis-Brewer, D. M., Tao, F., Zarei, F., Habibzadeh, P., Yavarian, M., Modarresi, F., Silawi, M., Tabatabaei, Z., Yousefi, M., Farpour, H. R., Kessler, C., Mangold, E., Kobeleva, X., Mueller, A. J., Haack, T. B., Tarnopolsky, M., Gan-Or, Z., Rouleau, G. A., Synofzik, M., Sobrido, M. J., Jordanova, A., Schule, R., Zuchner, S. and Faghihi, M. A. (2019). "Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia." Am J Hum Genet 104(4): 767-773. www.ncbi.nlm.nih.gov/pubmed/30929741.

Fischer-Zirnsak, B., Koenig, R., Alisch, F., Gunes, N., Hausser, I., Saha, N., Beck-Woedl, S., Haack, T. B., Thiel, C., Kamrath, C., Tuysuz, B., Henning, S., Mundlos, S., Hoffmann, K., Horn, D. and Kornak, U. (2019). "SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy." J Hum Genet 64(7): 609-616. www.ncbi.nlm.nih.gov/pubmed/31015584.

Harmsen, S., Buchert, R., Mayatepek, E., Haack, T. B. and Distelmaier, F. (2019). "Bain type of X-linked syndromic mental retardation in boys." Clin Genet 95(6): 734-735. www.ncbi.nlm.nih.gov/pubmed/30887513.

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., Altmuller, 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(2): 384-394. www.ncbi.nlm.nih.gov/pubmed/31256876.

Park, J., Koko, M., Hedrich, U. B. S., Hermann, A., Cremer, K., Haberlandt, E., Grimmel, M., Alhaddad, B., Beck-Woedl, S., Harrer, M., Karall, D., Kingelhoefer, L., Tzschach, A., Matthies, L. C., Strom, T. M., Ringelstein, E. B., Sturm, M., Engels, H., Wolff, M., Lerche, H. and Haack, T. B. (2019). "KCNC1-related disorders: new de novo variants expand the phenotypic spectrum." Ann Clin Transl Neurol 6(7): 1319-1326. www.ncbi.nlm.nih.gov/pubmed/31353862.

Traschutz, A., van Gaalen, J., Oosterloo, M., Vreeburg, M., Kamsteeg, E. J., Deininger, N., Riess, O., Reimold, M., Haack, T., Schols, L., van de Warrenburg, B. P. and Synofzik, M. (2019). "The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature." Parkinsonism Relat Disord 62: 215-220. www.ncbi.nlm.nih.gov/pubmed/30522958.

2018

Alhaddad, B., Schossig, A., Haack, T. B., Kovács-Nagy, R., Braunisch, M. C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T. M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N. I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U., Kopajtich, R., Prokisch, H., Meitinger, T., Feichtinger, R. G., Mayr, J. A., Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F. and Koch, J. (2018). "PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum." Neuropediatrics 49(5): 330-338. www.ncbi.nlm.nih.gov/pubmed/29940663.

Braunisch, M. C., Gallwitz, H., Abicht, A., Diebold, I., Holinski-Feder, E., Van Maldergem, L., Lammens, M., Kovács-Nagy, R., Alhaddad, B., Strom, T. M., Meitinger, T., Senderek, J., Rudnik-Schöneborn, S. and Haack, T. B. (2018). "Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I." Clinical Genetics 93(2): 255-265. www.ncbi.nlm.nih.gov/pubmed/28653766.

Brechtmann, F., Mertes, C., Matuseviciute, A., Yepez, V. A., Avsec, Z., Herzog, M., Bader, D. M., Prokisch, H. and Gagneur, J. (2018). "OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data." Am J Hum Genet 103(6): 907-917. www.ncbi.nlm.nih.gov/pubmed/30503520.

Charif, M., Nasca, A., Thompson, K., Gerber, S., Makowski, C., Mazaheri, N., Bris, C., Goudenège, D., Legati, A., Maroofian, R., Shariati, G., Lamantea, E., Hopton, S., Ardissone, A., Moroni, I., Giannotta, M., Siegel, C., Strom, T. M., Prokisch, H., Vignal-Clermont, C., Derrien, S., Zanlonghi, X., Kaplan, J., Hamel, C. P., Leruez, S., Procaccio, V., Bonneau, D., Reynier, P., White, F. E., Hardy, S. A., Barbosa, I. A., Simpson, M. A., Vara, R., Perdomo Trujillo, Y., Galehdari, H., Deshpande, C., Haack, T. B., Rozet, J.-M., Taylor, R. W., Ghezzi, D., Amati-Bonneau, P. and Lenaers, G. (2018). "Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults." JAMA neurology 75(1): 105-113. www.ncbi.nlm.nih.gov/pubmed/29181510.

Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M. A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovács-Nagy, R., Gusic, M., Graf, E., Laugwitz, L., Röblitz, M., Wroblewski, A., Hartmann, H., Das, A. M., Bültmann, E., Fang, F., Xu, M., Schatz, U. A., Karall, D., Zellner, H., Haberlandt, E., Feichtinger, R. G., Mayr, J. A., Meitinger, T., Prokisch, H., Strom, T. M., Płoski, R., Hoffmann, G. F., Pronicki, M., Bonnen, P. E., Morlot, S. and Haack, T. B. (2018). "Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy." American Journal of Human Genetics 103(5): 817-825. www.ncbi.nlm.nih.gov/pubmed/30401461.

Distelmaier, F., Herebian, D., Atasever, C., Beck-Woedl, S., Mayatepek, E., Strom, T. M. and Haack, T. B. (2018). "Blue Diaper Syndrome and PCSK1 Mutations." Pediatrics 141(Suppl 5): S501-S505. www.ncbi.nlm.nih.gov/pubmed/29610180.

Gregor, A., Sadleir, L. G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L. B., Boonsawat, P., Bruel, A.-L., Buchert, R., Calpena, E., Cogné, B., Dallapiccola, B., Distelmaier, F., Elmslie, F., Faivre, L., Haack, T. B., Harrison, V., Henderson, A., Hunt, D., Isidor, B., Joset, P., Kumada, S., Lachmeijer, A. M. A., Lees, M., Lynch, S. A., Martinez, F., Matsumoto, N., McDougall, C., Mefford, H. C., Miyake, N., Myers, C. T., Moutton, S., Nesbitt, A., Novelli, A., Orellana, C., Rauch, A., Rosello, M., Saida, K., Santani, A. B., Sarkar, A., Scheffer, I. E., Shinawi, M., Steindl, K., Symonds, J. D., Zackai, E. H., University of Washington Center for Mendelian, G., Study, D. D. D., Reis, A., Sticht, H. and Zweier, C. (2018). "De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder." American Journal of Human Genetics 103(2): 305-316. www.ncbi.nlm.nih.gov/pubmed/30057029.

Helal, M., Mazaheri, N., Shalbafan, B., Malamiri, R. A., Dilaver, N., Buchert, R., Mohammadiasl, J., Golchin, N., Sedaghat, A., Mehrjardi, M. Y. V., Haack, T. B., Riess, O., Chung, W. K., Galehdari, H., Shariati, G. and Maroofian, R. (2018). "Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant." Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 39(11): 1917-1925. www.ncbi.nlm.nih.gov/pubmed/30128655.

Iuso, A., Alhaddad, B., Weigel, C., Kotzaeridou, U., Mastantuono, E., Schwarzmayr, T., Graf, E., Terrile, C., Prokisch, H., Strom, T. M., Hoffmann, G. F., Meitinger, T. and Haack, T. B. (2018). "A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy." JIMD reports. www.ncbi.nlm.nih.gov/pubmed/29923093.

Lenz, D., McClean, P., Kansu, A., Bonnen, P. E., Ranucci, G., Thiel, C., Straub, B. K., Harting, I., Alhaddad, B., Dimitrov, B., Kotzaeridou, U., Wenning, D., Iorio, R., Himes, R. W., Kuloğlu, Z., Blakely, E. L., Taylor, R. W., Meitinger, T., Kölker, S., Prokisch, H., Hoffmann, G. F., Haack, T. B. and Staufner, C. (2018). "SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)." Genetics in Medicine: Official Journal of the American College of Medical Genetics. www.ncbi.nlm.nih.gov/pubmed/29419818.

Milev, M. P., Graziano, C., Karall, D., Kuper, W. F. E., Al-Deri, N., Cordelli, D. M., Haack, T. B., Danhauser, K., Iuso, A., Palombo, F., Pippucci, T., Prokisch, H., Saint-Dic, D., Seri, M., Stanga, D., Cenacchi, G., van Gassen, K. L. I., Zschocke, J., Fauth, C., Mayr, J. A., Sacher, M. and van Hasselt, P. M. (2018). "Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts." Journal of Medical Genetics 55(11): 753-764. www.ncbi.nlm.nih.gov/pubmed/30120216.

Puusepp, S., Kovacs-Nagy, R., Alhaddad, B., Braunisch, M., Hoffmann, G. F., Kotzaeridou, U., Lichvarova, L., Liiv, M., Makowski, C., Mandel, M., Meitinger, T., Pajusalu, S., Rodenburg, R. J., Safiulina, D., Strom, T. M., Talvik, I., Vaarmann, A., Wilson, C., Kaasik, A., Haack, T. B. and Õunap, K. (2018). "Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency." European journal of human genetics: EJHG 26(3): 407-419. www.ncbi.nlm.nih.gov/pubmed/29343804.

Roeben, B., Schüle, R., Ruf, S., Bender, B., Alhaddad, B., Benkert, T., Meitinger, T., Reich, S., Böhringer, J., Langhans, C.-D., Vaz, F. M., Wortmann, S. B., Marquardt, T., Haack, T. B., Krägeloh-Mann, I., Schöls, L. and Synofzik, M. (2018). "SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family." Journal of Medical Genetics 55(1): 39-47. www.ncbi.nlm.nih.gov/pubmed/28916646.

Wettmarshausen, J., Goh, V., Huang, K.-T., Arduino, D. M., Tripathi, U., Leimpek, A., Cheng, Y., Pittis, A. A., Gabaldón, T., Mokranjac, D., Hajnóczky, G. and Perocchi, F. (2018). "MICU1 Confers Protection from MCU-Dependent Manganese Toxicity." Cell Reports 25(6): 1425-1435.e1427. www.ncbi.nlm.nih.gov/pubmed/30403999.

Yépez, V. A., Kremer, L. S., Iuso, A., Gusic, M., Kopajtich, R., Koňaříková, E., Nadel, A., Wachutka, L., Prokisch, H. and Gagneur, J. (2018). "OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer." PloS One 13(7): e0199938. www.ncbi.nlm.nih.gov/pubmed/29995917.

2017

Ait-El-Mkadem, S., Dayem-Quere, M., Gusic, M., Chaussenot, A., Bannwarth, S., François, B., Genin, E. C., Fragaki, K., Volker-Touw, C. L. M., Vasnier, C., Serre, V., van Gassen, K. L. I., Lespinasse, F., Richter, S., Eisenhofer, G., Rouzier, C., Mochel, F., De Saint-Martin, A., Abi Warde, M.-T., de Sain-van der Velde, M. G. M., Jans, J. J. M., Amiel, J., Avsec, Z., Mertes, C., Haack, T. B., Strom, T., Meitinger, T., Bonnen, P. E., Taylor, R. W., Gagneur, J., van Hasselt, P. M., Rötig, A., Delahodde, A., Prokisch, H., Fuchs, S. A. and Paquis-Flucklinger, V. (2017). "Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy." American Journal of Human Genetics 100(1): 151-159. www.ncbi.nlm.nih.gov/pubmed/27989324.

Bublitz, S. K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T. M., Haack, T. B. and Deschauer, M. (2017). "Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration." Clinical Genetics 92(5): 561-562. www.ncbi.nlm.nih.gov/pubmed/28940199.

Calvo, P. L., Tandoi, F., Haak, T. B., Brunati, A., Pinon, M., Olio, D. D., Romagnoli, R. and Spada, M. (2017). "NBAS mutations cause acute liver failure: when acetaminophen is not a culprit." Italian Journal of Pediatrics 43(1): 88. www.ncbi.nlm.nih.gov/pubmed/28946922.

Carecchio, M., Picillo, M., Valletta, L., Elia, A. E., Haack, T. B., Cozzolino, A., Vitale, A., Garavaglia, B., Iuso, A., Bagella, C. F., Pappatà, S., Barone, P., Prokisch, H., Romito, L. and Tiranti, V. (2017). "Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation." Neurogenetics 18(3): 175-178. www.ncbi.nlm.nih.gov/pubmed/28664294.

Glasgow, R. I. C., Thompson, K., Barbosa, I. A., He, L., Alston, C. L., Deshpande, C., Simpson, M. A., Morris, A. A. M., Neu, A., Löbel, U., Hall, J., Prokisch, H., Haack, T. B., Hempel, M., McFarland, R. and Taylor, R. W. (2017). "Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits." Neurogenetics 18(4): 227-235. www.ncbi.nlm.nih.gov/pubmed/29075935.

Habarou, F., Hamel, Y., Haack, T. B., Feichtinger, R. G., Lebigot, E., Marquardt, I., Busiah, K., Laroche, C., Madrange, M., Grisel, C., Pontoizeau, C., Eisermann, M., Boutron, A., Chrétien, D., Chadefaux-Vekemans, B., Barouki, R., Bole-Feysot, C., Nitschke, P., Goudin, N., Boddaert, N., Nemazanyy, I., Delahodde, A., Kölker, S., Rodenburg, R. J., Korenke, G. C., Meitinger, T., Strom, T. M., Prokisch, H., Rotig, A., Ottolenghi, C., Mayr, J. A. and Lonlay, P. d. (2017). "Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy." The American Journal of Human Genetics 0(0). www.ncbi.nlm.nih.gov/pubmed/28757203,%2028757203.

Herebian, D., Alhaddad, B., Seibt, A., Schwarzmayr, T., Danhauser, K., Klee, D., Harmsen, S., Meitinger, T., Strom, T. M., Schulz, A., Mayatepek, E., Haack, T. B. and Distelmaier, F. (2017). "Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities." European journal of human genetics: EJHG 25(9): 1092-1095. www.ncbi.nlm.nih.gov/pubmed/28612835.

Koch, J., Mayr, J. A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K. L. M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R. A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T. M., Sperl, W., Meitinger, T., Wortmann, S. B. and Haack, T. B. (2017). "CAD mutations and uridine-responsive epileptic encephalopathy." Brain: A Journal of Neurology 140(Pt 2): 279-286. www.ncbi.nlm.nih.gov/pubmed/28007989.

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., Koňaříková, E., Repp, B., Kastenmüller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., Lombes, A., Jardel, C., Gläser, D., Taylor, R. W., Ghezzi, D., Mayr, J. A., Rötig, A., Freisinger, P., Distelmaier, F., Strom, T. M., Meitinger, T., Gagneur, J. and Prokisch, H. (2017). "Genetic diagnosis of Mendelian disorders via RNA sequencing." Nature Communications 8: 15824. www.ncbi.nlm.nih.gov/pubmed/28604674.

Röeben, B., Marquetand, J., Bender, B., Billing, H., Haack, T. B., Sanchez-Albisua, I., Schöls, L., Blom, H. J. and Synofzik, M. (2017). "Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function." Orphanet Journal of Rare Diseases 12(1): 135. www.ncbi.nlm.nih.gov/pubmed/28764801.

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M.-K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C.-S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R., Alhaddad, B., Kovacs-Nagy, R., Haack, T. B., Dionisi-Vici, C., Pronicka, E. and Wortmann, S. B. (2017). "3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency." Clinica Chimica Acta; International Journal of Clinical Chemistry 471: 95-100. www.ncbi.nlm.nih.gov/pubmed/28526534.

Stricker, G., Engelhardt, A., Schulz, D., Schmid, M., Tresch, A. and Gagneur, J. (2017). "GenoGAM: Genome-wide generalized additive models for ChIP-seq analysis." Bioinformatics (Oxford, England). www.ncbi.nlm.nih.gov/pubmed/28369277.

Wachutka, L. and Gagneur, J. (2017). "Measures of RNA metabolism rates: Toward a definition at the level of single bonds." Transcription 8(2): 75-80. www.ncbi.nlm.nih.gov/pubmed/27841720.

Wambach, J. A., Stettner, G. M., Haack, T. B., Writzl, K., Škofljanec, A., Maver, A., Munell, F., Ossowski, S., Bosio, M., Wegner, D. J., Shinawi, M., Baldridge, D., Alhaddad, B., Strom, T. M., Grange, D. K., Wilichowski, E., Troxell, R., Collins, J., Warner, B. B., Schmidt, R. E., Pestronk, A., Cole, F. S. and Steinfeld, R. (2017). "Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)." Human Mutation 38(11): 1477-1484. www.ncbi.nlm.nih.gov/pubmed/28726266.

Zacher, B., Michel, M., Schwalb, B., Cramer, P., Tresch, A. and Gagneur, J. (2017). "Accurate Promoter and Enhancer Identification in 127 ENCODE and Roadmap Epigenomics Cell Types and Tissues by GenoSTAN." PloS One 12(1): e0169249. www.ncbi.nlm.nih.gov/pubmed/28056037.

2016

Danhauser, K., Haack, T.B., Alhaddad, B., Melcher, M., Seibt, A., Strom, T.M., Meitinger, T., Klee, D., Mayatepek, E., Prokisch, H., Distelmaier, F., 2016a. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab Brain Dis. doi.org/10.1007/s11011-016-9793-2

Danhauser, K., Herebian, D., Haack, T.B., Rodenburg, R.J., Strom, T.M., Meitinger, T., Klee, D., Mayatepek, E., Prokisch, H., Distelmaier, F., 2016b. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur. J. Hum. Genet. 24, 450–454. doi.org/10.1038/ejhg.2015.133

Eser, P., Wachutka, L., Maier, K.C., Demel, C., Boroni, M., Iyer, S., Cramer, P., Gagneur, J., 2016. Determinants of RNA metabolism in the Schizosaccharomyces pombe genome. Molecular Systems Biology 12, 857. doi.org/10.15252/msb.20156526

Gupta, S., Radhakrishnan, A., Nitin, R., Raharja-Liu, P., Lin, G., Steinmetz, L.M., Gagneur, J., Sinha, H., 2016. Meiotic Interactors of a Mitotic Gene TAO3 Revealed by Functional Analysis of its Rare Variant. G3 (Bethesda) 6, 2255–2263. doi.org/10.1534/g3.116.029900

Haack, T.B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., Lönnqvist, T., Suomalainen, A., Gorza, M., Kremer, L.S., Graf, E., Hartig, M., Berutti, R., Paucar, M., Svenningsson, P., Stranneheim, H., Brandberg, G., Wedell, A., Kurian, M.A., Hayflick, S.A., Venco, P., Tiranti, V., Strom, T.M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C.J., Klopstock, T., 2016. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am. J. Hum. Genet. 99, 735–743. doi.org/10.1016/j.ajhg.2016.06.026

Holzerova, E., Danhauser, K., Haack, T.B., Kremer, L.S., Melcher, M., Ingold, I., Kobayashi, S., Terrile, C., Wolf, P., Schaper, J., Mayatepek, E., Baertling, F., Friedmann Angeli, J.P., Conrad, M., Strom, T.M., Meitinger, T., Prokisch, H., Distelmaier, F., 2016. Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346–354. doi.org/10.1093/brain/awv350

Koch, J., Feichtinger, R.G., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J.A., Prokisch, H., Haack, T.B., 2016. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270–278. doi.org/10.1136/jmedgenet-2015-103500

Kopajtich, R., Murayama, K., Janecke, A.R., Haack, T.B., Breuer, M., Knisely, A.S., Harting, I., Ohashi, T., Okazaki, Y., Watanabe, D., Tokuzawa, Y., Kotzaeridou, U., Kölker, S., Sauer, S., Carl, M., Straub, S., Entenmann, A., Gizewski, E., Feichtinger, R.G., Mayr, J.A., Lackner, K., Strom, T.M., Meitinger, T., Müller, T., Ohtake, A., Hoffmann, G.F., Prokisch, H., Staufner, C., 2016. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am. J. Hum. Genet. 99, 414–422. doi.org/10.1016/j.ajhg.2016.05.027

Kremer, L.S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G.F., Strom, T.M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H., Haack, T.B., 2016. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358–362. doi.org/10.1016/j.ajhg.2015.12.009

La Piana, R., Cayami, F.K., Tran, L.T., Guerrero, K., van Spaendonk, R., Õunap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-Thé, B.T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkınay, F., Vanderver, A., van der Knaap, M.S., Wolf, N.I., Bernard, G., 2016. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86, 1622–1626. doi.org/10.1212/WNL.0000000000002612

Schwalb, B., Michel, M., Zacher, B., Frühauf, K., Demel, C., Tresch, A., Gagneur, J., Cramer, P., 2016. TT-seq maps the human transient transcriptome. Science 352, 1225–1228. doi.org/10.1126/science.aad9841

Staufner, C., Haack, T.B., Köpke, M.G., Straub, B.K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P.J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Lenz, D., Kühr, J., Himbert, U., Taylor, R.W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Ozolek, J.A., Zschocke, J., Kuster, A., Dick, A., Das, A.M., Wieland, T., Terrile, C., Strom, T.M., Meitinger, T., Prokisch, H., Hoffmann, G.F., 2016. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3–16. doi.org/10.1007/s10545-015-9896-7

Zech, M., Boesch, S., Maier, E.M., Borggraefe, I., Vill, K., Laccone, F., Pilshofer, V., Ceballos-Baumann, A., Alhaddad, B., Berutti, R., Poewe, W., Haack, T.B., Haslinger, B., Strom, T.M., Winkelmann, J., 2016. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am. J. Hum. Genet. 99, 1377–1387. doi.org/10.1016/j.ajhg.2016.10.010

2015

Ahting, U., Mayr, J.A., Vanlander, A.V., Hardy, S.A., Santra, S., Makowski, C., Alston, C.L., Zimmermann, F.A., Abela, L., Plecko, B., Rohrbach, M., Spranger, S., Seneca, S., Rolinski, B., Hagendorff, A., Hempel, M., Sperl, W., Meitinger, T., Smet, J., Taylor, R.W., Van Coster, R., Freisinger, P., Prokisch, H., Haack, T.B., 2015. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet 6, 123. doi.org/10.3389/fgene.2015.00123

Haack, T.B., Jackson, C.B., Murayama, K., Kremer, L.S., Schaller, A., Kotzaeridou, U., de Vries, M.C., Schottmann, G., Santra, S., Büchner, B., Wieland, T., Graf, E., Freisinger, P., Eggimann, S., Ohtake, A., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Sauer, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Hasselmann, O., Cremer, K., Albrecht, B., Wieczorek, D., Engels, H., Hahn, D., Zink, A.M., Alston, C.L., Taylor, R.W., Rodenburg, R.J., Trollmann, R., Sperl, W., Strom, T.M., Hoffmann, G.F., Mayr, J.A., Meitinger, T., Bolognini, R., Schuelke, M., Nuoffer, J.-M., Kölker, S., Prokisch, H., Klopstock, T., 2015a. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol 2, 492–509. doi.org/10.1002/acn3.189

Haack, T.B., Staufner, C., Köpke, M.G., Straub, B.K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P.J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Kühr, J., Himbert, U., Taylor, R.W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Zschocke, J., Kremer, L.S., Graf, E., Schwarzmayr, T., Bader, D.M., Gagneur, J., Wieland, T., Terrile, C., Strom, T.M., Meitinger, T., Hoffmann, G.F., Prokisch, H., 2015b. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am. J. Hum. Genet. 97, 163–169. doi.org/10.1016/j.ajhg.2015.05.009

Hempel, M., Cremer, K., Ockeloen, C.W., Lichtenbelt, K.D., Herkert, J.C., Denecke, J., Haack, T.B., Zink, A.M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T.M., van Gassen, K.L.I., Kleefstra, T., Kubisch, C., Engels, H., Lessel, D., 2015. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am. J. Hum. Genet. 97, 493–500. doi.org/10.1016/j.ajhg.2015.08.003

Koch, J., Freisinger, P., Feichtinger, R.G., Zimmermann, F.A., Rauscher, C., Wagentristl, H.P., Konstantopoulou, V., Seidl, R., Haack, T.B., Prokisch, H., Ahting, U., Sperl, W., Mayr, J.A., Maier, E.M., 2015. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis 10, 40. doi.org/10.1186/s13023-015-0254-5

Oláhová, M., Hardy, S.A., Hall, J., Yarham, J.W., Haack, T.B., Wilson, W.C., Alston, C.L., He, L., Aznauryan, E., Brown, R.M., Brown, G.K., Morris, A.A.M., Mundy, H., Broomfield, A., Barbosa, I.A., Simpson, M.A., Deshpande, C., Moeslinger, D., Koch, J., Stettner, G.M., Bonnen, P.E., Prokisch, H., Lightowlers, R.N., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., Taylor, R.W., 2015. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503–3519. doi.org/10.1093/brain/awv291

Powell, C.A., Kopajtich, R., D’Souza, A.R., Rorbach, J., Kremer, L.S., Husain, R.A., Dallabona, C., Donnini, C., Alston, C.L., Griffin, H., Pyle, A., Chinnery, P.F., Strom, T.M., Meitinger, T., Rodenburg, R.J., Schottmann, G., Schuelke, M., Romain, N., Haller, R.G., Ferrero, I., Haack, T.B., Taylor, R.W., Prokisch, H., Minczuk, M., 2015. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am. J. Hum. Genet. 97, 319–328. doi.org/10.1016/j.ajhg.2015.06.011