Tobias B Haack

Cited by

	All	Since 2019
Citations	13659	9124
h-index	67	57
i10-index	199	195

1900

950

475

1425

2011201220132014201520162017201820192020202120222023202455 175 308 349 560 678 1007 1205 1247 1514 1892 1816 1811 827

Public access

View all

216 articles

30 articles

available

not available

Based on funding mandates

Co-authors

Prokisch HInstitute of Human Genetics TU-MunichVerified email at helmholtz-munich.de
Thomas MeitingerProf emeritus, Technische Universität MünchenVerified email at mri.tum.de
Bader AlhaddadImam Abdulrahman bin Faisal UniversityVerified email at iau.edu.sa
Peter FreisingerProfessor Kinderheilkunde TU München; Klinikum ReutlingenVerified email at klin-rt.de
Matthis SynofzikHertie-Institute for Clinical Brain Research & Center for Neurology, Tübingen, GermanyVerified email at uni-tuebingen.de
Felix DistelmaierHead of the Neuropediatrics Department, University Children's Hospital, Heinrich-Heine UniversityVerified email at hhu.de
Thomas KlopstockDept. of Neurology, University of MunichVerified email at med.lmu.de
Robert W TaylorNewcastle UniversityVerified email at ncl.ac.uk
Massimo Zeviani, MD, PhDUniversity of PadovaVerified email at unipd.it
Richard RodenburgClinical Laboratory GeneticistVerified email at radboudumc.nl
Olaf RiessProfessor der Humangenetik, Universität TübingenVerified email at med.uni-tuebingen.de
Saskia B. WortmannUniversity Children‘s Hospital, PMU Salzburg, AustriaVerified email at salk.at
Rebecca SchüleDivision of Neurodegenerative Diseases and Movement Disorders, Dept. of Neurology, Univ HeidelbergVerified email at uni-heidelberg.de
Michal MinczukProfessor at Dept. Clinical Neurosciences & Group Leader at MRC MBU - University of CambridgeVerified email at mrc-mbu.cam.ac.uk
Stephan ZuchnerProfessor, Department of Human Genetics, University of Miami Miller School of MedicineVerified email at med.miami.edu
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanyVerified email at crg.eu
Stefan KölkerHeidelberg University HospitalVerified email at med.uni-heidelberg.de
Cornelia KornblumProfessor of Clinical NeurologyVerified email at ukbonn.de
Robert McFarlandNewcastle UniversityVerified email at ncl.ac.uk
Husain Ralf ANeuropädiater, Universitätsklinikum JenaVerified email at med.uni-jena.de

Tobias B Haack

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

Verified email at med.uni-tuebingen.de

human genetics molecular genomics sequencing technologies diagnostics


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
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	520	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	350	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	316	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	266	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	259	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	242	2012
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	234	2013
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	228	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	223	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	220	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	214	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	206	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	200	2014
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	181	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	159	2016
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	158	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	153	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	149	2017
Spectrum of combined respiratory chain defects JA Mayr, TB Haack, P Freisinger, D Karall, C Makowski, J Koch, ... Journal of inherited metabolic disease 38, 629-640, 2015	146	2015
Creatine improves health and survival of mice A Bender, J Beckers, I Schneider, SM Hölter, T Haack, T Ruthsatz, ... Neurobiology of Aging 29 (9), 1404-1411, 2008	145	2008

The system can't perform the operation now. Try again later.

Articles 1–20

Citations per year

Duplicate citations

Merged citations

Add co-authorsCo-authors

Follow

Cited by

Co-authors