A. Rotthier

Most-cited papers

1. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

   I. Kurth, T. Pamminger, J. Hennings, Désirée Soehendra +13 more

   2009Nature Genetics246 citations

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2. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

   A. Rotthier, M. Auer-Grumbach, K. Janssens, J. Baets +14 more

   2010American Journal of Human Genetics180 citations Open access

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3. Mechanisms of disease in hereditary sensory and autonomic neuropathies

   A. Rotthier, J. Baets, V. Timmerman, K. Janssens

   2012Nature Reviews Neurology163 citations

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4. Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

   A. Rotthier, J. Baets, E. De Vriendt, A. Jacobs +11 more

   2009Brain : a journal of neurology162 citations Open access

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5. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

   E. Ashton, A. Legrand, V. Benoit, Isabelle Roncelin +16 more

   2018Kidney International92 citations Open access

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6. High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

   M. Hureaux, E. Ashton, K. Dahan, P. Houillier +15 more

   2019Kidney International48 citations Open access

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7. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

   A. Rotthier, Anke Penno, B. Rautenstrauss, M. Auer-Grumbach +8 more

   2011Human Mutation46 citations Open access

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8. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

   T. Hornemann, Anke Penno, S. Richard, G. Nicholson +4 more

   2009Neurogenetics28 citations Open access

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9. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

   S. Kilic, R. Ozturk, B. Sarisozen, A. Rotthier +2 more

   2009Neurogenetics26 citations

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10. Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

    D. Proost, J. Saenen, G. Vandeweyer, A. Rotthier +9 more

    2017Journal of Molecular Diagnostics19 citations Open access

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11. Accurate and precise targeted NGS with BRCA MASTR Plus Dx for BRCA1 and BRCA2 mutation detection in formalin-fixed paraffin-embedded tumor tissue-derived DNA.

    G. Boulet, Djana Van Barel, A. Rotthier, D. Goossens +1 more

    20170 citations

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12. Genetic testing of familial hypercholesterolemia: Monogenic form and polygenic contribution to cardiovascular risk.

    P. Couvert, P. Giral, P. Boelle, V. Carreau +8 more

    2017Atherosclerosis0 citations

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13. Detection of NRAS, KRAS and BRAF mutations in FFPE derived DNA with a novel targeted resequencing-based diagnostics assay

    C. Marques, K. Bettens, D. Goossens, L. Heyrman +6 more

    20160 citations Open access

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14. MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME

    B. Lipska-Ziętkiewicz, O. Boyer, O. Gribouval, Mansoureh Tabatabaei +8 more

    20160 citations Open access

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15. Protein based detection of GM ingredients

    A. Rotthier, M. Eeckhout, N. Gryson, K. Dewettinck +1 more

    20070 citations

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