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Page 1
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: mannens m. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
Mutation update for the PORCN gene.
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC. Lombardi MP, et al. Among authors: mannens ma. Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Hum Mutat. 2011. PMID: 21472892 Review.
DNA diagnosis in a family with autosomal dominant aniridia.
Verbraak FD, Mannens MA, Redeker EJ, Saunders GF, Bleeker-Wagemakers EM. Verbraak FD, et al. Among authors: mannens ma. Ophthalmic Paediatr Genet. 1991 Dec;12(4):165-70. doi: 10.3109/13816819109025812. Ophthalmic Paediatr Genet. 1991. PMID: 1815167
NTCP deficiency and persistently raised bile salts: an adult case.
Van Herpe F, Waterham HR, Adams CJ, Mannens M, Bikker H, Vaz FM, Cassiman D. Van Herpe F, et al. J Inherit Metab Dis. 2017 May;40(3):313-315. doi: 10.1007/s10545-017-0031-9. Epub 2017 Mar 10. J Inherit Metab Dis. 2017. PMID: 28283843 No abstract available.