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A framework for the detection of de novo mutations in family-based sequencing data.
Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23.
Eur J Hum Genet. 2017.
PMID: 27876817
Free PMC article.
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP.
Cretu Stancu M, et al.
Nat Commun. 2017 Nov 6;8(1):1326. doi: 10.1038/s41467-017-01343-4.
Nat Commun. 2017.
PMID: 29109544
Free PMC article.
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Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Kuiper JJW, Setten JV, Devall M, Cretu-Stancu M, Hiddingh S, Ophoff RA, Missotten TOAR, Velthoven MV, Den Hollander AI, Hoyng CB, James E, Reeves E, Cordero-Coma M, Fonollosa A, Adán A, Martín J, Koeleman BPC, Boer JH, Pulit SL, Márquez A, Radstake TRDJ.
Kuiper JJW, et al. Among authors: cretu stancu m.
Hum Mol Genet. 2018 Dec 15;27(24):4333-4343. doi: 10.1093/hmg/ddy319.
Hum Mol Genet. 2018.
PMID: 30215709
Free PMC article.
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Lower frequency of the HLA-G UTR-4 haplotype in women with unexplained recurrent miscarriage.
Meuleman T, Drabbels J, van Lith JMM, Dekkers OM, Rozemuller E, Cretu-Stancu M, Claas FHJ, Bloemenkamp KWM, Eikmans M.
Meuleman T, et al. Among authors: cretu stancu m.
J Reprod Immunol. 2018 Apr;126:46-52. doi: 10.1016/j.jri.2018.02.002. Epub 2018 Feb 7.
J Reprod Immunol. 2018.
PMID: 29481987
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