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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Halgren C, et al. Among authors: mang y. Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805044 Free PMC article.
Sequence and expression analysis of gaps in human chromosome 20.
Minocherhomji S, Seemann S, Mang Y, El-Schich Z, Bak M, Hansen C, Papadopoulos N, Josefsen K, Nielsen H, Gorodkin J, Tommerup N, Silahtaroglu A. Minocherhomji S, et al. Among authors: mang y. Nucleic Acids Res. 2012 Aug;40(14):6660-72. doi: 10.1093/nar/gks302. Epub 2012 Apr 17. Nucleic Acids Res. 2012. PMID: 22510267 Free PMC article.
Genetic studies in congenital anterior midline cervical cleft.
Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, Bak M, Møller RS, Klitten LL, Tommerup N. Jakobsen LP, et al. Among authors: mang y. Am J Med Genet A. 2012 Aug;158A(8):2021-6. doi: 10.1002/ajmg.a.35466. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786797
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Among authors: mang y. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 Free PMC article.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: mang y. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.
The first mutation in CNGA2 in two brothers with anosmia.
Karstensen HG, Mang Y, Fark T, Hummel T, Tommerup N. Karstensen HG, et al. Among authors: mang y. Clin Genet. 2015 Sep;88(3):293-6. doi: 10.1111/cge.12491. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25156905
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND. Rasmussen MB, et al. Among authors: mang y. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112
38 results