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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Ratbi I, et al. Among authors: sommen m. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Zazo Seco C, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G. Schrauwen I, et al. Among authors: sommen m. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13. Am J Hum Genet. 2012. PMID: 22981119 Free PMC article.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Insufficient evidence for a role of SERPINF1 in otosclerosis.
Valgaeren H, Sommen M, Beyens M, Vandeweyer G, Schrauwen I, Schepers A, Schatteman I, Topsakal V, Dhooge I, Kunst H, Zanetti D, Huber AM, Hoischen A, Fransen E, Van Camp G. Valgaeren H, et al. Among authors: sommen m. Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9. Mol Genet Genomics. 2019. PMID: 30968248
14 results