Haack, Tobias B.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

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

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

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

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Koch, J., Feichtinger, R. G., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J. A., Prokisch, H., & Haack, T. B. (2016) · Journal of Medical Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 127

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

Gustavsson, E. K., Follett, J., Trinh, J., Barodia, S. K., Real, R., Liu, Z., Grant-Peters, M., Fox, J. D., Appel-Cresswell, S., Stoessl, A. J., et al. (2024) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 114

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 61

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, T. Y., Gonzaga-Jauregui, C., Bhoj, E. J., Strauss, K. A., Brigatti, K., Puffenberger, E., Li, D., Xie, L., Das, N., Skubas, I., et al. (2017) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 55

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

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., et al. (2017) · neurogenetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 17

Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study

Mandler, J. M., Härtl, J., Cordts, I., Sturm, M., Hedderich, D. M., Bafligil, C., Baki, E., Becker, B., Machetanz, G., Haack, T. B., et al. (2024) · Multiple Sclerosis Journal - Experimental, Translational and Clinical

Multiple Sclerosis Research StudiesCerebrovascular and genetic disorders

Cited by 2