M. Sommen

Most-cited papers

1. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

   I. Ratbi, K. Falkenberg, M. Sommen, Nada Al-sheqaih +27 more

   2015American Journal of Human Genetics126 citations Open access

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2. A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

   I. Schrauwen, S. Helfmann, A. Inagaki, Friederike Predoehl +14 more

   2012American Journal of Human Genetics109 citations Open access

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3. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

   M. Sommen, I. Schrauwen, G. Vandeweyer, N. Boeckx +16 more

   2016Human Mutation88 citations Open access

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4. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

   I. Schrauwen, M. Sommen, Jason J. Corneveaux, R. Reiman +7 more

   2013American Journal of Medical Genetics. Part A68 citations

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5. Osmotic stress inhibits leaf growth of Arabidopsis thaliana by enhancing ARF-mediated auxin responses.

   Shweta Kalve, Bulelani L. Sizani, M. N. Markakis, C. Helsmoortel +7 more

   2020New Phytologist51 citations Open access

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6. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

   I. Schrauwen, M. Sommen, C. Claes, J. Pinner +3 more

   2014Clinical Genetics51 citations

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7. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

   I. Schrauwen, H. Valgaeren, L. Tomas-Roca, M. Sommen +27 more

   2018Genetics in Medicine22 citations Open access

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8. Molecular diagnostics for hereditary hearing loss in children

   M. Sommen, W. Wuyts, G. Van Camp

   2017Expert Review of Molecular Diagnostics22 citations

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9. Genetic Association Analysis in a Clinically and Histologically Confirmed Otosclerosis Population Confirms Association With the TGFB1 Gene but Suggests an Association of the RELN Gene With a Clinically Indistinguishable Otosclerosis-Like Phenotype

   M. Sommen, G. Van Camp, Balázs Liktor, P. Csomor +4 more

   2014Otology and Neurotology22 citations Open access

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10. Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

    E. Fransen, H. Valgaeren, K. Janssens, M. Sommen +9 more

    2021European Journal of Human Genetics21 citations Open access

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11. Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

    A. Boudewyns, J. van den Ende, M. Sommen, W. Wuyts +3 more

    2018Otology and Neurotology14 citations

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12. Insufficient evidence for a role of SERPINF1 in otosclerosis

    H. Valgaeren, M. Sommen, M. Beyens, G. Vandeweyer +11 more

    2019Zeitschrift für Induktive Abstammungs- und Vererbungslehre12 citations

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13. A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

    A. Højland, L. Tavernier, I. Schrauwen, M. Sommen +10 more

    2021Human Genetics8 citations Open access

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14. Genetic diagnostics of early childhood hearing loss: better testing with next-generation DNA sequencing.

    M. Sommen, G. Van Camp

    2013B-ENT4 citations

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15. Genetic and clinical diagnosis in non-syndromic hearing loss

    M. Sommen, G. Van Camp, A. Boudewyns

    20134 citations

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