Birgit Haberberger

Most-cited papers

1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

   S. Ashraf, H. Gee, Stephanie L. Woerner, Le-Tian X. Xie +41 more

   2013Journal of Clinical Investigation324 citations Open access

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2. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

   T. Haack, K. Danhauser, Birgit Haberberger, J. Hoser +15 more

   2010Nature Genetics274 citations

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3. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

   J. Mayr, T. Haack, E. Graf, F. Zimmermann +15 more

   2012American Journal of Human Genetics217 citations Open access

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4. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

   T. Haack, Birgit Haberberger, Eva-Maria Frisch, T. Wieland +24 more

   2012Journal of Medical Genetics199 citations Open access

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5. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

   T. Haack, Florence Madignier, M. Herzer, E. Lamantea +22 more

   2011Journal of Medical Genetics102 citations Open access

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6. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

   T. Haack, B. Rolinski, Birgit Haberberger, F. Zimmermann +12 more

   2013Journal of Inherited Metabolic Disease94 citations

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7. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

   Christopher B. Jackson, J. Nuoffer, D. Hahn, H. Prokisch +5 more

   2013Journal of Medical Genetics86 citations

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8. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

   T. Haack, M. Gorza, K. Danhauser, J. Mayr +23 more

   2014Molecular Genetics and Metabolism71 citations Open access

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9. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

   M. Schiff, Birgit Haberberger, C. Xia, A. Mohsen +17 more

   2015Human Molecular Genetics61 citations Open access

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10. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

    Marie Collet, Z. Assouline, D. Bonnet, M. Rio +10 more

    2015European Journal of Human Genetics38 citations Open access

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11. Mitochondrial complex I deficiency: exome sequencing aids efficient diagnosis and identification of a novel disease gene

    T. Haack, K. Danhauser, Birgit Haberberger, J. Hoser +9 more

    20111 citations

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12. Exome resequencing reveals ADCK4 mutations as novel causes of steroid-resistant nephrotic syndrome

    S. Ashraf, H. Gee, Stephanie L. Woerner, Le-Tian X. Xie +38 more

    20130 citations

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13. Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

    R. Kopajtich, T. Haack, Birgit Haberberger, J. Mayr +7 more

    20130 citations

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14. Bezafibrate as treatment option in patients with mitochondrial complex I deficiency

    P. Freisinger, Birgit Haberberger, Valentina Strecker, Mirco Steger +10 more

    20130 citations

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15. MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY A MUTATION IN BOLA3

    U. Ahting, T. Haack, Birgit Haberberger, J. Mayr +12 more

    20120 citations

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16. Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders

    H. Prokisch, T. Haack, Florence Madignier, K. Danhauser +14 more

    20110 citations

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