| Genetic diagnosis of Mendelian disorders via RNA sequencing LS Kremer, DM Bader, C Mertes, R Kopajtich, G Pichler, A Iuso, TB Haack, ... Nature communications 8 (1), 15824, 2017 | 634 | 2017 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 402 | 2012 |
| Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ... Nature genetics 42 (12), 1131-1134, 2010 | 335 | 2010 |
| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation MB Hartig, A Iuso, T Haack, T Kmiec, E Jurkiewicz, K Heim, S Roeber, ... The American Journal of Human Genetics 89 (4), 543-550, 2011 | 306 | 2011 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 285 | 2013 |
| Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation SJ Hayflick, MC Kruer, A Gregory, TB Haack, MA Kurian, HH Houlden, ... Brain 136 (6), 1708-1717, 2013 | 273 | 2013 |
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations ME Steenweg, D Ghezzi, T Haack, TEM Abbink, D Martinelli, ... Brain 135 (5), 1387-1394, 2012 | 265 | 2012 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 262 | 2014 |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 258 | 2012 |
| Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ... Journal of medical genetics 49 (4), 277-283, 2012 | 243 | 2012 |
| Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ... The American Journal of Human Genetics 94 (1), 11-22, 2014 | 242 | 2014 |
| Novel (ovario) leukodystrophy related to AARS2 mutations C Dallabona, D Diodato, SH Kevelam, TB Haack, LJ Wong, GS Salomons, ... Neurology 82 (23), 2063-2071, 2014 | 241 | 2014 |
| Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis D Ghezzi, E Baruffini, TB Haack, F Invernizzi, L Melchionda, C Dallabona, ... The American Journal of Human Genetics 90 (6), 1079-1087, 2012 | 228 | 2012 |
| Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum M Synofzik, AS Soehn, J Gburek-Augustat, J Schicks, KN Karle, R Schüle, ... Orphanet journal of rare diseases 8 (1), 41, 2013 | 223 | 2013 |
| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 213 | 2022 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 191 | 2013 |
| ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ... The American Journal of Human Genetics 93 (2), 211-223, 2013 | 188 | 2013 |
| Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia M Zech, S Boesch, EM Maier, I Borggraefe, K Vill, F Laccone, V Pilshofer, ... The American Journal of Human Genetics 99 (6), 1377-1387, 2016 | 184 | 2016 |
| Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ... The American Journal of Human Genetics 100 (2), 257-266, 2017 | 183 | 2017 |
| Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease A Traschütz, A Cortese, S Reich, N Dominik, J Faber, H Jacobi, ... Neurology 96 (9), e1369-e1382, 2021 | 172 | 2021 |
Prokisch HInstitute of Human Genetics TU-MunichVerified email at helmholtz-munich.de
