Tobias B Haack

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Coauteurs

Prokisch HInstitute of Human Genetics TU-MunichAdresse e-mail validée de helmholtz-munich.de
Thomas MeitingerProf emeritus, Technische Universität MünchenAdresse e-mail validée de mri.tum.de
Matthis SynofzikHertie-Institute for Clinical Brain Research & Center for Neurology, Tübingen, GermanyAdresse e-mail validée de uni-tuebingen.de
Peter FreisingerProfessor Kinderheilkunde TU München; Klinikum ReutlingenAdresse e-mail validée de klin-rt.de
Felix DistelmaierHead of the Neuropediatrics Department, University Children's Hospital, Heinrich-Heine UniversityAdresse e-mail validée de hhu.de
Thomas KlopstockDept. of Neurology, University of MunichAdresse e-mail validée de med.lmu.de
Robert W TaylorNewcastle UniversityAdresse e-mail validée de ncl.ac.uk
Massimo Zeviani, MD, PhDUniversity of PadovaAdresse e-mail validée de unipd.it
Richard RodenburgClinical Laboratory GeneticistAdresse e-mail validée de radboudumc.nl
Olaf RiessProfessor der Humangenetik, Universität TübingenAdresse e-mail validée de med.uni-tuebingen.de
Rebecca SchüleDivision of Neurodegenerative Diseases and Movement Disorders, Dept. of Neurology, Univ HeidelbergAdresse e-mail validée de uni-heidelberg.de
Saskia B. WortmannUniversity Children‘s Hospital, PMU Salzburg, AustriaAdresse e-mail validée de salk.at
Michal MinczukProfessor at Dept. Clinical Neurosciences & Group Leader at MRC MBU - University of CambridgeAdresse e-mail validée de mrc-mbu.cam.ac.uk
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyAdresse e-mail validée de crg.eu
Stefan KölkerHeidelberg University HospitalAdresse e-mail validée de med.uni-heidelberg.de
Stephan ZuchnerProfessor, Department of Human Genetics, University of Miami Miller School of MedicineAdresse e-mail validée de med.miami.edu
Husain Ralf ANeuropädiater, Universitätsklinikum JenaAdresse e-mail validée de med.uni-jena.de
Cornelia KornblumProfessor of Clinical NeurologyAdresse e-mail validée de ukbonn.de
Susanne KohlInstitute for Ophthalmic Research, University TübingenAdresse e-mail validée de med.uni-tuebingen.de
Robert McFarlandNewcastle UniversityAdresse e-mail validée de ncl.ac.uk

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Tobias B Haack

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Germany

Adresse e-mail validée de med.uni-tuebingen.de

human genetics molecular genomics sequencing technologies diagnostics


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	578	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	380	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	321	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	289	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	271	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	257	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	255	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	239	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	239	2012
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	234	2014
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	228	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	221	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	217	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	202	2013
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	178	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	173	2013
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	170	2017
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	169	2016
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014	155	2014
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	151	2022

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